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
148 60 144 101 41 2 453

Condition and significance breakdown #

Total conditions: 26
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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 28 22 48 23 19 0 140
not provided 51 20 44 4 8 0 125
not specified 0 0 10 58 26 0 91
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 0 31 21 10 0 62
Osteogenesis Imperfecta, Dominant 0 0 31 21 10 0 62
Osteogenesis imperfecta 4 11 8 8 1 0 32
Connective tissue disorder 0 0 12 12 0 0 24
Osteogenesis imperfecta type III 18 1 2 0 0 0 21
Osteogenesis imperfecta with normal sclerae, dominant form 17 1 0 1 0 0 19
Osteogenesis imperfecta, recessive perinatal lethal 15 4 0 0 0 0 19
Osteogenesis imperfecta type I 10 1 0 0 0 0 11
Inborn genetic diseases 5 2 2 0 0 0 9
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form; EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 3 0 5 0 0 0 8
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 6 0 0 0 0 0 6
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form 6 0 0 0 0 0 6
Osteogenesis imperfecta/Ehlers-Danlos crossover syndrome 3 0 0 0 0 0 3
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 0 2 0 0 0 0 2
COL1A2-Related Disorder 0 0 0 0 0 1 1
COL1A2-Related Disorders 0 0 1 0 0 0 1
Dentinogenesis imperfecta 0 1 0 0 0 0 1
Marfan syndrome, atypical 0 0 1 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, autosomal recessive, cardiac valvular form; Ehlers-Danlos syndrome, procollagen proteinase deficient 0 0 0 0 0 1 1
Postmenopausal osteoporosis 1 0 0 0 0 0 1
Skeletal dysplasia; Multiple prenatal fractures 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 22 48 23 19 0 140
GeneDx 31 7 25 55 21 0 139
Illumina Clinical Services Laboratory,Illumina 0 0 32 21 10 0 63
OMIM 49 0 1 0 0 0 50
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 7 16 1 10 0 38
Athena Diagnostics Inc 12 0 3 1 15 0 31
Integrated Genetics/Laboratory Corporation of America 1 10 9 8 2 0 30
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 5 2 4 3 3 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 8 1 0 0 11
Ambry Genetics 5 2 2 0 0 0 9
PreventionGenetics 0 0 0 1 7 0 8
Fulgent Genetics 3 0 5 0 0 0 8
Baylor Miraca Genetics Laboratories, 3 1 1 0 0 0 5
Institute of Human Genetics,Cologne University 2 1 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 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

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