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
20 15 149 167 56 3 345

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 59 113 55 0 200
Otospondylomegaepiphyseal dysplasia 4 0 23 60 15 0 102
not provided 5 10 79 5 2 2 101
Fibrochondrogenesis 0 0 23 60 15 0 98
Nonsyndromic Hearing Loss, Dominant 0 0 23 60 15 0 98
Stickler Syndrome, Dominant 0 0 23 60 15 0 98
Weissenbacher-Zweymuller syndrome 0 0 23 60 15 0 98
Connective tissue disorder 0 0 5 28 0 0 33
Stickler syndrome, type 3 6 1 3 0 0 0 10
Deafness, autosomal dominant 13 2 1 2 0 0 0 5
Fibrochondrogenesis 2 4 1 0 0 0 0 5
Deafness, autosomal recessive 53 3 1 0 0 0 0 4
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13; Otospondylomegaepiphyseal dysplasia; Stickler syndrome, type 3; Fibrochondrogenesis 2 0 0 3 0 0 1 4
Inborn genetic diseases 0 1 1 0 0 0 2
COL11A2-Related Disorders 0 0 1 0 0 0 1
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 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
Nonsyndromic hearing loss and deafness 0 1 0 0 0 0 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 52 42 47 0 142
GeneDx 2 4 30 79 27 0 142
Illumina Clinical Services Laboratory,Illumina 0 0 24 60 15 0 99
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 1 48 13 16 0 81
Center for Human Genetics, Inc 0 0 5 28 0 0 33
PreventionGenetics 0 0 0 11 19 0 30
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 2 2 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 5 1 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 3 0 0 5
Fulgent Genetics 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 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
Athena Diagnostics Inc 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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