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
162 75 135 166 151 3 604

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 87 41 77 62 115 1 368
not specified 1 6 6 83 63 0 147
Stickler Syndrome, Dominant 0 0 48 28 0 0 76
Type II Collagenopathies 0 0 48 28 0 0 76
Stickler syndrome type 1 25 9 2 1 3 0 40
Connective tissue disorder 0 1 5 19 0 0 25
Spondyloepiphyseal dysplasia 9 1 1 0 0 0 10
Achondrogenesis, type II 5 3 0 1 0 0 9
Inborn genetic diseases 4 5 0 0 0 0 9
Spondyloperipheral dysplasia 6 2 0 0 0 0 8
Stickler syndrome, type I, nonsyndromic ocular 7 1 0 0 0 0 8
Kniest dysplasia 5 1 1 0 0 0 7
Spondylometaphyseal dysplasia 6 0 0 0 0 0 6
Achondrogenesis, type II; Avascular necrosis of the head of femur; Epiphyseal dysplasia, multiple, with myopia and conductive deafness; Coxa plana; Kniest dysplasia; Osteoarthritis with mild chondrodysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic lethal skeletal dysplasia Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia; Czech dysplasia metatarsal type; Stickler syndrome, type I, nonsyndromic ocular; Spondyloepiphyseal dysplasia, stanescu type 3 0 1 0 0 0 4
Spondyloepiphyseal dysplasia, stanescu type 3 1 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 lethal skeletal dysplasia Torrance type 2 0 0 0 0 1 3
Stickler syndrome 2 1 0 0 0 0 3
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; Osteoarthritis with mild chondrodysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic lethal skeletal dysplasia Torrance type; Spondylometaphyseal dysplasia; Spondyloepiphyseal dysplasia; 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
COL2A1-related skeletal dysplasia 1 0 0 0 0 0 1
Coxa plana 1 0 0 0 0 0 1
Czech dysplasia metatarsal type 1 0 0 0 0 0 1
Epiphyseal dysplasia, multiple, with myopia and conductive deafness 1 0 0 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
Osteoarthritis with mild chondrodysplasia 1 0 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; Hearing impairment; Hip dysplasia; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae 0 1 0 0 0 0 1
Skeletal dysplasia 1 0 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 53 18 23 83 118 0 295
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 35 16 46 6 18 0 121
Invitae 1 0 0 42 33 0 76
Illumina Clinical Services Laboratory,Illumina 0 0 48 28 0 0 76
OMIM 55 0 0 0 0 0 55
PreventionGenetics,PreventionGenetics 0 0 0 13 35 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 9 5 6 18 0 40
Center for Human Genetics, Inc 5 5 6 19 0 0 35
Athena Diagnostics Inc 0 0 1 2 11 0 14
Mendelics 4 4 1 0 3 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 7 1 0 0 11
Ambry Genetics 4 5 0 0 0 0 9
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 1 0 0 0 3
Blueprint Genetics 0 0 3 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Division of Genomic Diagnostics,The 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
GeneReviews 2 0 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
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 2 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 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
Molecular Diagnostics Laboratory, M Health: 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

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