ClinVar Miner

Variants in gene COL2A1

Minimum submission review status: Collection method:
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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
145 61 129 122 64 3 450

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 77 37 73 3 8 1 194
not specified 1 4 5 82 59 0 140
Stickler Syndrome, Dominant 0 0 48 28 0 0 76
Type II Collagenopathies 0 0 48 28 0 0 76
Stickler syndrome type 1 26 8 1 1 0 0 36
Connective tissue disorder 0 1 5 19 0 0 25
Spondyloepiphyseal dysplasia 9 1 1 0 0 0 10
Inborn genetic diseases 4 5 0 0 0 0 9
Achondrogenesis, type II 5 3 0 0 0 0 8
Kniest dysplasia 5 1 1 0 0 0 7
Stickler syndrome, type I, nonsyndromic ocular 7 0 0 0 0 0 7
Spondylometaphyseal dysplasia 6 0 0 0 0 0 6
Spondyloperipheral dysplasia 5 1 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
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
Rhegmatogenous retinal detachment, autosomal dominant 2 0 0 0 0 0 2
Spondyloepiphyseal dysplasia, stanescu type 2 0 0 0 0 0 2
Stickler syndrome 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
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 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
Vitreoretinopathy with phalangeal epiphyseal dysplasia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 48 17 23 68 41 0 197
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 35 16 46 6 18 0 121
Illumina Clinical Services Laboratory,Illumina 0 0 48 28 0 0 76
OMIM 55 0 0 0 0 0 55
PreventionGenetics 0 0 0 13 35 0 48
Center for Human Genetics, Inc 5 5 6 19 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 7 4 3 6 0 22
Ambry Genetics 4 5 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 6
Athena Diagnostics Inc 0 0 1 0 4 0 5
Fulgent Genetics 3 0 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 1 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 0 2
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 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
Institute of Human Genetics,Klinikum rechts der Isar 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 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

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