ClinVar Miner

Variants studied for type 2 collagenopathy

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
172 123 294 130 82 13 785

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 163 113 127 35 37 10 464
CHST3 0 0 92 31 20 0 143
FN1 7 8 58 46 18 3 132
TRAPPC2 0 0 5 1 3 0 9
ATIC, FN1 0 0 4 3 1 0 8
FN1, LOC126806496 0 0 3 3 0 0 6
FN1, LOC126806498 0 0 1 5 0 0 6
FN1, LOC122861289 0 0 0 3 1 0 4
FN1, LOC126806497 0 0 1 2 1 0 4
ALDH18A1 0 0 2 0 0 0 2
CLASP1, RNU4ATAC 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
BNIP1 0 0 1 0 0 0 1
FN1, FN1-DT 0 0 0 0 1 0 1
FN1, LOC126806499 0 0 0 1 0 0 1
GNPTAB 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 0 164 56 52 0 276
Fulgent Genetics, Fulgent Genetics 6 0 66 74 7 0 153
OMIM 58 0 0 0 0 0 58
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 21 8 1 0 0 0 30
Mendelics 11 9 1 0 4 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 17 4 4 0 0 0 25
Juno Genomics, Hangzhou Juno Genomics, Inc 9 4 5 0 0 0 18
Genome-Nilou Lab 0 0 0 0 18 0 18
3billion 5 9 4 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 0 0 0 0 11
Center for Human Genetics, Inc, Center for Human Genetics, Inc 5 4 1 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 4 4 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 4 3 0 0 0 10
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 4 4 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 4 1 0 0 0 10
MGZ Medical Genetics Center 2 5 2 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 6 0 0 0 9
Baylor Genetics 5 1 2 0 0 0 8
GeneReviews 0 0 0 0 0 8 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 5 2 0 0 0 8
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 6 1 0 0 0 8
Center of Medical Genetics, Central South University 2 2 1 1 1 0 7
Genetics and Molecular Pathology, SA Pathology 1 3 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 1 0 6
SIB Swiss Institute of Bioinformatics 0 5 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 1 4 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 3 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 1 0 0 0 4
MVZ Medizinische Genetik Mainz 1 1 2 0 0 0 4
Institute of Human Genetics, Cologne University 1 2 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 2 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 2
DBGen Ocular Genomics 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Laboratório de Genética Molecula, r University of Campinas - Unicamp 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 1 0 0 0 0 0 1
Zankl Lab, University of Sydney 1 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 0 0 1
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.