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
548 427 832 1060 283 12 2802

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 436 285 708 1018 256 1 2512
Stickler syndrome type 1 62 38 78 26 33 2 233
not specified 2 6 8 55 66 0 128
Type II Collagenopathies 1 1 39 15 69 0 125
COL2A1-related condition 10 16 26 58 2 0 112
Connective tissue disorder 5 14 13 24 17 0 72
Inborn genetic diseases 7 7 29 1 0 0 44
Achondrogenesis type II 16 17 7 1 0 0 41
Spondyloepiphyseal dysplasia congenita 26 13 4 0 0 0 41
Spondyloperipheral dysplasia 11 8 6 0 0 0 25
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 2 0 6 11 3 0 22
Kniest dysplasia 10 6 2 0 0 0 18
Stickler syndrome, type I, nonsyndromic ocular 10 4 4 0 0 0 18
Spondyloepimetaphyseal dysplasia, Strudwick type 11 6 0 0 0 0 16
Spondyloepiphyseal dysplasia, Stanescu type 3 2 3 0 1 0 9
Platyspondylic dysplasia, Torrance type 3 4 0 0 0 1 8
Type 2 collagenopathy 7 0 0 0 0 1 8
Avascular necrosis of femoral head, primary, 1 3 3 1 0 0 0 6
COL2A1-related disorders 1 2 2 0 0 0 5
Retinal dystrophy 1 3 1 0 0 0 5
See cases 2 3 0 0 0 0 5
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; 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
Hypochondrogenesis 3 0 0 0 0 0 3
MASS syndrome 0 2 1 0 0 0 3
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 0 0 0 3 3
Stickler Syndrome, Dominant 0 0 2 1 0 0 3
Autosomal dominant rhegmatogenous retinal detachment 2 0 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
Hearing impairment 0 0 1 0 1 0 2
Intellectual disability 0 0 0 2 0 0 2
Multiple epiphyseal dysplasia, Beighton type 2 0 0 0 0 0 2
Namaqualand hip dysplasia 2 0 0 0 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 2 0 0 0 0 0 2
Abnormal cartilage collagen 0 0 1 0 0 0 1
Abnormality of the skeletal system 0 1 0 0 0 0 1
Acetabular dysplasia 1 0 0 0 0 0 1
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Legg-Calve-Perthes disease; Kniest dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Czech dysplasia, metatarsal type; Spondyloepiphyseal dysplasia, Stanescu type 0 0 0 0 0 1 1
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type 4; Spondyloepiphyseal dysplasia, Stanescu type 0 0 1 0 0 0 1
Achondrogenesis type II; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Platyspondylic dysplasia, Torrance type; Spondyloepimetaphyseal dysplasia, Strudwick type 0 1 0 0 0 0 1
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type 0 0 0 0 0 1 1
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Czech dysplasia, metatarsal type; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type 0 0 0 0 0 1 1
COL2A1-Related Disorder 0 0 0 0 0 1 1
COL2A1-related phenotype 0 1 0 0 0 0 1
Heart, malformation of; Micrognathia 1 0 0 0 0 0 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 1
Kniest dysplasia; Spondyloepimetaphyseal dysplasia, Strudwick type 0 1 0 0 0 0 1
Legg-Calve-Perthes disease 1 0 0 0 0 0 1
Maffucci syndrome 0 1 0 0 0 0 1
Marfan syndrome 0 1 0 0 0 0 1
Mendelian syndromes with cleft lip/palate 0 0 1 0 0 0 1
Myopia 1 0 0 0 0 0 1
Narrow chest; Disproportionate short-limb short stature 0 1 0 0 0 0 1
Orofacial cleft 1 0 0 1 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 0 0 0 0 0 1
Retinal detachment 1 0 0 0 0 0 1
Retinitis pigmentosa 0 0 1 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; Developmental dysplasia of the hip; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae 0 1 0 0 0 0 1
Skeletal dysplasia 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

Submitter and significance breakdown #

Total submitters: 114
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 343 201 513 935 129 0 2121
GeneDx 113 31 181 161 166 0 652
PreventionGenetics, part of Exact Sciences 10 16 26 71 37 0 160
Illumina Laboratory Services, Illumina 5 2 77 37 71 0 134
Eurofins Ntd Llc (ga) 35 16 46 6 18 0 121
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 18 10 25 30 0 90
CeGaT Center for Human Genetics Tuebingen 10 8 18 20 8 0 64
OMIM 55 0 0 0 0 0 55
Genome Diagnostics Laboratory, The Hospital for Sick Children 5 13 8 8 17 0 51
Ambry Genetics 7 7 29 1 0 0 44
Blueprint Genetics 10 24 7 0 0 0 41
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 5 6 19 0 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 0 3 2 21 0 34
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 20 8 1 0 0 0 29
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 27 0 28
Revvity Omics, Revvity 4 5 18 0 0 0 27
Mendelics 12 9 3 0 3 0 27
Fulgent Genetics, Fulgent Genetics 5 0 7 11 3 0 26
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 1 12 7 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 2 2 0 0 0 20
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 11 4 0 18
3billion 5 9 4 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 1 2 2 0 16
Athena Diagnostics Inc 0 0 1 3 11 0 15
Clinical Genetics, Academic Medical Center 1 0 1 4 8 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 4 4 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 9 0 11
Clinical Genetics and Genomics, Karolinska University Hospital 5 5 0 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 5 2 0 0 0 10
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 4 4 0 0 0 10
MGZ Medical Genetics Center 2 5 2 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 3 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 3 1 0 0 0 8
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 6 1 0 0 0 8
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
Baylor Genetics 3 1 2 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 5 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 3 2 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 1 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 2 0 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 4 0 0 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 2 0 0 0 4
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 3 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 1 0 0 0 3
Institute of Human Genetics, Cologne University 1 2 0 0 0 0 3
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 2 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 2 0 0 0 0 3
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 1 0 1 0 3
DBGen Ocular Genomics 2 0 1 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 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
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 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 School of Medicine 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 0 1 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 1
Rheumatology and Immunology Department, Shandong Provincial Hospital Affiliated to Shandong First Medicial University 1 0 0 0 0 0 1
Zankl Lab, University of Sydney 1 0 0 0 0 0 1
Faculty of Pharmacy, University of Ljubljana 0 0 1 0 0 0 1
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana 0 0 1 0 0 0 1

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