ClinVar Miner

Variants in gene COL2A1

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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 not provided total
649 483 975 1184 291 12 3166

Condition and significance breakdown #

Total conditions: 70
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 524 314 811 1145 260 1 2828
Stickler syndrome type 1 69 43 86 26 33 2 253
COL2A1-related disorder 17 30 43 67 2 1 160
not specified 2 7 9 67 70 0 145
Type II Collagenopathies 1 1 39 15 69 0 125
Inborn genetic diseases 10 7 61 4 0 0 82
Connective tissue disorder 5 14 13 24 17 0 72
Achondrogenesis type II 17 19 8 1 0 0 45
Spondyloepiphyseal dysplasia congenita 27 14 4 0 0 0 43
Spondyloperipheral dysplasia 12 12 6 0 0 0 30
Stickler syndrome, type I, nonsyndromic ocular 12 6 9 0 0 0 26
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; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type 7 7 9 0 0 0 23
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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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 12 6 3 0 0 0 21
Spondyloepimetaphyseal dysplasia, Strudwick type 11 6 0 0 0 0 16
Type 2 collagenopathy 9 3 1 0 0 1 14
Retinal dystrophy 3 3 6 0 0 0 12
Spondyloepiphyseal dysplasia, Stanescu type 4 3 4 0 1 0 12
Platyspondylic dysplasia, Torrance type 3 4 0 0 0 1 8
Avascular necrosis of femoral head, primary, 1 3 3 1 0 0 0 6
Stickler syndrome 4 2 0 0 0 0 6
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; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, Stanescu type 3 0 1 0 0 0 4
Hypochondrogenesis 3 0 0 0 0 0 3
MASS syndrome 0 2 1 0 0 0 3
Multiple epiphyseal dysplasia, Beighton type 2 0 1 0 0 0 3
Spondyloepiphyseal dysplasia with metatarsal shortening 2 1 0 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
Achondrogenesis type II; Kniest dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Hypochondrogenesis; Spondyloepimetaphyseal dysplasia, Strudwick type 0 0 0 0 0 2 2
Autosomal dominant rhegmatogenous retinal detachment 2 0 0 0 0 0 2
COL2A1-related skeletal dysplasia 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
Namaqualand hip dysplasia 2 0 0 0 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 2 0 0 0 0 0 2
Spondylometaphyseal dysplasia 0 0 2 0 0 0 2
Spondylometaphyseal dysplasia, Schmidt type 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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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; Spondyloepiphyseal dysplasia with metatarsal shortening; 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; Spondyloepiphyseal dysplasia with metatarsal shortening; Osteoarthritis; Spondyloepimetaphyseal dysplasia, Strudwick type 0 0 0 0 0 1 1
COL2A1-related phenotype 0 1 0 0 0 0 1
Congenital aneurysm of ascending aorta 0 0 1 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 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
Optic atrophy 0 0 1 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
Spondyloepiphyseal dysplasia, Namaqualand type 0 1 0 0 0 0 1
Spondyloperipheral dysplasia; Spondyloepiphyseal dysplasia, Stanescu type 1 0 0 0 0 0 1
Stargardt disease 1 0 0 0 0 0 1
Stickler syndrome type 1; Stickler syndrome, type I, nonsyndromic ocular 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: 130
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 403 226 574 1058 134 0 2395
GeneDx 156 34 247 161 166 0 764
PreventionGenetics, part of Exact Sciences 17 26 41 80 37 0 201
Illumina Laboratory Services, Illumina 7 3 77 37 71 0 137
Eurofins Ntd Llc (ga) 35 16 46 6 18 0 121
Breakthrough Genomics, Breakthrough Genomics 0 0 5 22 94 0 121
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 20 8 26 34 0 95
Ambry Genetics 10 7 61 4 0 0 82
CeGaT Center for Human Genetics Tuebingen 10 9 22 32 4 0 77
OMIM 57 0 0 0 0 0 57
Genome Diagnostics Laboratory, The Hospital for Sick Children 5 13 8 8 17 0 51
Blueprint Genetics 10 24 7 0 0 0 41
Fulgent Genetics, Fulgent Genetics 8 4 12 11 3 0 38
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 5 6 19 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 3 14 7 0 35
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 0 3 2 21 0 34
3billion 14 12 8 0 0 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 10 2 0 3 0 27
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 4 3 0 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 9 4 5 0 0 0 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 11 4 0 18
Athena Diagnostics 0 0 1 3 11 0 15
Clinical Genetics, Academic Medical Center 1 0 1 4 8 0 14
Clinical Genetics and Genomics, Karolinska University Hospital 6 6 0 0 0 0 12
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 3 4 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 1 0 0 0 10
Baylor Genetics 6 1 2 0 0 0 9
MGZ Medical Genetics Center 2 5 2 0 0 0 9
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 2 0 6 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 2 3 0 1 0 8
Clinical Genetics Laboratory, Skane University Hospital Lund 2 3 3 0 0 0 8
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 6 1 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 5 0 0 0 7
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
Neuberg Centre For Genomic Medicine, NCGM 2 1 4 0 0 0 7
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 3 0 0 0 0 4
MVZ Medizinische Genetik Mainz 1 2 1 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
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 1 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
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
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 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
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
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 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
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 1 0 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 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
Institute of Immunology and Genetics Kaiserslautern 0 1 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
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 1
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 1

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