ClinVar Miner

Variants in gene COL11A2

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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
25 22 247 208 98 6 494

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 67 117 56 0 214
not provided 7 12 102 50 42 2 207
Otospondylomegaepiphyseal dysplasia, autosomal recessive 7 0 84 30 36 0 156
Otospondylomegaepiphyseal dysplasia, autosomal dominant 5 0 73 62 15 0 155
Fibrochondrogenesis 2 3 0 91 24 26 0 144
Stickler Syndrome, Dominant 0 0 23 60 15 0 98
Connective tissue disease 0 0 5 28 0 0 33
Hearing impairment 0 1 10 0 0 0 11
Deafness, autosomal dominant 13 3 1 6 0 0 0 10
none provided 0 0 0 3 5 0 8
Deafness, autosomal recessive 53 3 3 0 0 0 0 6
Fibrochondrogenesis 1 0 0 1 4 1 0 6
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 0 0 3 0 0 2 5
Nonsyndromic Hearing Loss, Dominant 0 0 1 3 0 0 4
Rare genetic deafness 0 3 0 0 0 0 3
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 2 0 0 0 2
Heart, malformation of; Thickened nuchal skin fold; Cystic hygroma; Short long bone 0 1 1 0 0 0 2
Inborn genetic diseases 0 1 1 0 0 0 2
Retinal dystrophy 0 1 1 0 0 0 2
COL11A2- Related Disorder 0 0 0 0 0 1 1
COL11A2-Related Disorders 0 0 1 0 0 0 1
Complete trisomy 21 syndrome 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 1 0 0 0 1
Nonsyndromic Deafness 1 0 0 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 0 0 0 0 0 1 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Short chin; Abnormal eyebrow morphology; Conductive hearing impairment; Single transverse palmar crease; Short lingual frenulum; Macrocephalus; Long philtrum; Reduced bone mineral density; Disproportionate short-limb short stature 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 2 5 30 107 65 0 209
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 59 47 47 0 156
Illumina Clinical Services Laboratory,Illumina 0 0 93 64 35 0 148
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 1 48 13 16 0 81
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 5 28 0 0 33
Invitae 0 0 22 9 0 0 31
PreventionGenetics, PreventionGenetics 0 0 0 11 19 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 1 5 13 8 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 7 5 6 0 18
OMIM 15 0 0 0 0 0 15
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 10 0 0 0 11
Athena Diagnostics Inc 0 0 2 2 5 0 9
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 3 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Mendelics 2 0 0 1 1 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Ambry Genetics 0 1 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 1 0 0 0 2
Blueprint Genetics 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1

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