ClinVar Miner

Variants in gene COL11A1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
143 180 1535 1441 498 58 3386

Condition and significance breakdown #

Total conditions: 64
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 110 93 1276 1374 489 0 3063
Stickler syndrome type 2 17 40 124 35 33 0 243
Inborn genetic diseases 2 3 198 1 0 0 204
not specified 0 0 47 92 69 0 203
Fibrochondrogenesis 1 5 2 117 14 40 0 177
COL11A1-related disorder 6 18 53 78 4 1 160
Connective tissue disorder 0 1 17 26 10 0 51
Hearing loss, autosomal dominant 37 4 7 18 0 16 0 45
Marshall syndrome 7 8 12 1 16 0 44
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2 3 18 3 2 0 28
Familial cancer of breast 0 0 0 0 0 12 12
Hearing impairment 0 4 6 0 0 0 10
Retinal dystrophy 0 0 8 0 0 0 8
Stickler syndrome 5 3 0 0 0 0 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Marshall syndrome; Stickler syndrome type 2 0 3 2 0 0 1 6
Meniere disease 0 0 6 0 0 0 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 0 1 0 0 0 4 5
Fibrochondrogenesis 4 0 0 0 0 0 4
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 2 1 1 0 0 0 4
Melanoma 0 0 0 0 0 4 4
See cases 1 1 2 0 0 0 4
Autosomal dominant COL11A1-related disorders 1 2 0 0 0 0 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 0 0 1 0 0 2 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Childhood onset hearing loss 0 0 2 0 0 0 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Autism; Neurodevelopmental delay 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 0 0 1 0 0 0 1
CHEK2-related cancer predisposition 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Intervertebral disc disorder 0 1 0 0 0 0 1
Lumbar disk herniation, susceptibility to 1 0 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Marshall syndrome; Stickler syndrome 0 1 0 0 0 0 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis; Autosomal recessive Stickler syndrome 0 0 0 0 0 1 1
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37; Fibrochondrogenesis 0 0 0 0 0 1 1
Marshall syndrome; Stickler syndrome type 2; Stickler syndrome; Hearing loss, autosomal dominant 37; Fibrochondrogenesis 0 0 0 0 0 1 1
Marshall/Stickler syndrome 1 0 0 0 0 0 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Osteogenesis imperfecta type III 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Sensorineural hearing loss disorder 0 0 1 0 0 0 1
Short stature 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
sporadic abdominal aortic aneurysm 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 55 880 1208 297 0 2539
GeneDx 14 27 439 219 239 0 938
Ambry Genetics 2 3 198 1 0 0 204
PreventionGenetics, part of Exact Sciences 4 17 51 91 35 0 198
Illumina Laboratory Services, Illumina 1 2 109 34 31 0 157
Breakthrough Genomics, Breakthrough Genomics 0 0 4 30 96 0 130
CeGaT Center for Human Genetics Tuebingen 3 6 42 35 4 0 90
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 44 41 2 0 90
Eurofins Ntd Llc (ga) 6 2 36 4 15 0 63
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 47 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 3 29 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 12 18 0 33
Revvity Omics, Revvity 2 4 25 2 0 0 33
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 9 21 0 0 31
Fulgent Genetics, Fulgent Genetics 2 3 16 3 2 0 26
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 3 0 20 0 25
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 9 5 10 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 3 11 8 0 23
Clinical Genetics, Academic Medical Center 0 0 2 6 15 0 23
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 0 17 0 22
Autoinflammatory diseases unit, CHU de Montpellier 7 9 0 0 0 0 16
Genome-Nilou Lab 0 0 0 0 16 0 16
3billion 2 4 9 0 0 0 15
OMIM 15 0 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 9 2 0 0 0 12
Baylor Genetics 2 2 7 0 0 0 11
Athena Diagnostics 1 0 2 0 7 0 10
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 4 6 0 0 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 5 2 0 1 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 3 2 0 0 8
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 5 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 6 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 5 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 7 0 0 7
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 2 5 0 0 0 7
Variantyx, Inc. 3 4 0 0 0 0 7
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 6 0 0 0 6
Institute of Human Genetics, University of Goettingen 0 1 5 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 1 0 0 6
Mendelics 2 0 2 0 2 0 6
Dasa 3 1 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
Blueprint Genetics 0 2 2 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 0 2 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
MVZ Medizinische Genetik Mainz 0 2 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 3 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 2 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Paediatric Orthopaedics Research Lab, Christian Medical College 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
TilsonLab, Columbia University 1 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1

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