ClinVar Miner

Variants studied for Exostoses, multiple, type 1

Coded as:
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 total
41 16 16 12 16 100

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EXT1 40 16 16 8 7 86
EXT2 0 0 0 4 9 13
ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, MAL2, MED30, MRPL13, MTBP, MTSS1, NDUFB9, NSMCE2, NTAQ1, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 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 total
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 16 25
OMIM 11 0 0 0 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 10 0 0 11
3billion 4 2 0 2 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 3 0 0 0 6
Mendelics 1 0 2 0 1 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 4
Department of Human Genetics, Hannover Medical School 2 1 1 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 2 0 0 0 3
Research Laboratory Environment, Inflammation, Signaling and Pathologies, Faculty of Medicine, University of Monastir 3 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Neurogenetics, Research Centre for Medical Genetics 0 0 0 1 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 1 0 0 0 0 1

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