ClinVar Miner

Variants in gene COL2A1

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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
221 134 300 228 178 3 942

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 147 84 226 136 115 1 682
Stickler syndrome type 1 27 10 70 25 32 0 164
not specified 1 6 6 83 63 0 147
Type II Collagenopathies 0 0 39 15 69 0 123
none provided 2 5 5 18 18 0 48
Connective tissue disease 0 1 5 19 0 0 25
Achondrogenesis type II 7 6 5 1 0 0 19
Spondyloepiphyseal dysplasia congenita 11 3 1 0 0 0 14
Inborn genetic diseases 7 5 0 0 0 0 12
Spondyloperipheral dysplasia-short ulna syndrome 6 4 0 0 0 0 10
Stickler syndrome, type I, nonsyndromic ocular 7 2 0 0 0 0 9
Kniest dysplasia 5 1 2 0 0 0 8
Retinal dystrophy 1 3 1 0 0 0 5
Spondyloepiphyseal dysplasia, stanescu type 3 1 0 0 1 0 5
Spondylometaphyseal dysplasia 5 0 0 0 0 0 5
Achondrogenesis type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia-short ulna syndrome; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, stanescu type 3 0 1 0 0 0 4
Stickler syndrome 2 2 0 0 0 0 4
Avascular necrosis of the head of femur 3 1 0 0 0 0 3
Hypochondrogenesis 3 0 0 0 0 0 3
Platyspondylic dysplasia, Torrance type 2 0 0 0 0 1 3
Spondylometaphyseal dysplasia - Sutcliffe type 3 0 0 0 0 0 3
Stickler Syndrome, Dominant 0 0 2 1 0 0 3
COL2A1-related disorders 1 1 0 0 0 0 2
COL2A1-related skeletal dysplasia 1 1 0 0 0 0 2
Czech dysplasia, metatarsal type 1 1 0 0 0 0 2
Epiphyseal dysplasia, multiple, with myopia and conductive deafness 2 0 0 0 0 0 2
Hearing impairment 0 0 1 0 1 0 2
Intellectual disability 0 0 0 2 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 2 0 0 0 0 0 2
Rhegmatogenous retinal detachment, autosomal dominant 2 0 0 0 0 0 2
Achondrogenesis type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia-short ulna syndrome; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Multiple epiphyseal dysplasia 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, stanescu type 0 0 1 0 0 0 1
COL2A1-Related Disorder 0 0 0 0 0 1 1
COL2A1-related phenotype 0 1 0 0 0 0 1
Coxa plana 1 0 0 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 1 0 0 0 1
Myopia (disease) 1 0 0 0 0 0 1
Namaqualand hip dysplasia 1 0 0 0 0 0 1
Narrow chest; Disproportionate short-limb short stature 0 1 0 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 0 0 0 0 0 1
Retinal detachment 1 0 0 0 0 0 1
Short ribs; Absent vertebral body mineralization 1 0 0 0 0 0 1
Short stature 0 1 0 0 0 0 1
Short stature; Hearing impairment; Hip dysplasia; Scoliosis; Multiple epiphyseal dysplasia (disease); Hypoplastic acetabulae 0 1 0 0 0 0 1
Skeletal dysplasia 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Strudwick type 1 0 0 0 0 0 1
Spondyloepiphyseal dysplasia, Namaqualand type 0 1 0 0 0 0 1
Stargardt disease 1 0 0 0 0 0 1
Vitreoretinopathy with phalangeal epiphyseal dysplasia 1 0 0 0 0 0 1
type 2 collagenopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 36 158 118 33 0 416
GeneDx 53 18 23 83 118 0 295
Illumina Clinical Services Laboratory,Illumina 1 1 73 37 71 0 125
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 35 16 46 6 18 0 121
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 14 9 22 25 0 74
OMIM 55 0 0 0 0 0 55
PreventionGenetics, PreventionGenetics 0 0 0 13 35 0 48
Center for Human Genetics, Inc,Center for Human Genetics, Inc 5 5 6 19 0 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 5 6 12 2 0 0 25
Athena Diagnostics Inc 0 0 1 3 11 0 15
Ambry Genetics 7 5 0 0 0 0 12
Mendelics 4 4 1 0 3 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 4 4 0 0 0 11
Blueprint Genetics 1 3 4 0 0 0 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 5 0 0 0 0 8
Baylor Genetics 2 1 2 0 0 0 5
GeneReviews 5 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 1 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 1 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 1 0 1 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Laboratório de Genética Molecula,r University of Campinas - Unicamp 0 0 0 0 0 2 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 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, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1

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