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
303 85 206 143 59 3 1 723

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Osteogenesis imperfecta type I 165 27 76 27 36 0 0 331
not provided 95 28 59 4 20 0 0 204
not specified 2 3 11 90 44 0 0 144
Infantile cortical hyperostosis 2 0 70 20 0 0 0 91
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 11 26 6 4 1 0 1 48
Osteogenesis imperfecta, recessive perinatal lethal 35 3 0 0 0 0 0 38
Connective tissue disorder 0 0 7 14 0 0 0 21
Osteogenesis imperfecta with normal sclerae, dominant form 20 0 0 0 0 0 0 20
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
Ehlers-Danlos syndrome, procollagen proteinase deficient 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
Ehlers-Danlos syndrome, classic type 2 0 0 0 0 0 0 2
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
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
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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 104 18 73 27 36 0 0 258
GeneDx 64 9 25 87 34 0 0 219
Illumina Clinical Services Laboratory,Illumina 0 0 70 20 0 0 0 89
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 6 31 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 15 2 5 0 24 0 0 46
Integrated Genetics/Laboratory Corporation of America 4 22 6 5 2 0 0 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6 9 3 2 8 0 0 28
Center for Human Genetics, Inc 0 2 7 14 0 0 0 23
Fulgent Genetics 7 1 4 0 0 0 0 12
Baylor Miraca Genetics Laboratories, 4 5 0 0 0 0 0 9
PreventionGenetics 0 0 0 1 8 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 0 0 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
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
Ambry Genetics 1 1 1 0 0 0 0 3
Institute of Human Genetics,Cologne University 3 0 0 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
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
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
Foundation for Research in Genetics and Endocrinology,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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1

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