ClinVar Miner

Variants studied for primary osteolysis

Included ClinVar conditions (32):
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
161 93 1758 896 235 31 3078

Gene and significance breakdown #

Total genes and gene combinations: 32
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH2 40 20 811 530 84 0 1438
SQSTM1 31 5 331 238 31 0 633
LMNA 22 20 157 31 11 22 245
ANTXR2 17 17 104 16 29 0 180
MMP2 12 4 67 10 25 0 116
MAFB 9 4 77 9 14 0 113
TNFRSF11A 0 0 67 10 11 0 88
ZMPSTE24 8 2 34 6 7 0 57
TREM2 10 10 25 9 3 5 48
LOC129995449, SQSTM1 0 2 13 27 1 0 43
TYROBP 2 4 12 1 7 2 24
BANF1 1 0 11 4 5 0 21
LMNA, LOC126805877 0 1 11 2 2 1 14
LMNA, LOC129931597 0 0 7 2 1 0 9
LOC130062628, TNFRSF11A 4 1 4 0 1 0 9
LOC129930253, ZMPSTE24 1 0 5 0 0 0 6
BANF1, EIF1AD, LOC130006089 0 0 4 1 0 0 5
MMP14 2 0 3 0 0 0 5
ERCC4 0 2 2 0 0 0 4
LOC130065872, MAFB 0 0 2 0 1 0 3
ANTXR2, LOC129992737 0 0 1 0 1 0 2
ANTXR2, LOC129992738 0 0 1 0 1 0 2
BANF1, LOC130006090 0 0 2 0 0 0 2
LOC129930252, ZMPSTE24 0 0 2 0 0 0 2
LOC130064269, LOC130064270, LOC130064271, TYROBP 1 0 0 0 0 1 2
ADAM30, HAO2, HMGCS2, HSD3B1, HSD3B2, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697 0 0 1 0 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 1
LOC112997583, SQSTM1 0 1 0 0 0 0 1
LPCAT2 1 0 0 0 0 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 57 12 1021 766 110 0 1966
Illumina Laboratory Services, Illumina 1 0 395 67 114 0 567
Fulgent Genetics, Fulgent Genetics 15 22 430 75 5 0 547
OMIM 57 0 0 0 0 0 57
GeneReviews 1 0 0 0 0 26 27
Baylor Genetics 10 1 11 0 0 0 22
Mendelics 4 3 3 2 4 0 16
Genome-Nilou Lab 0 0 0 0 14 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 5 5 0 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 7 2 0 10
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 9 0 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 1 1 0 0 0 8
SIB Swiss Institute of Bioinformatics 2 4 2 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 4 0 8
3billion, Medical Genetics 3 3 0 2 0 0 8
Revvity Omics, Revvity 3 2 2 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 1 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 1 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 1 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 2 1 1 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 2 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Suma Genomics 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics Department, Hospital Sant Joan de Deu 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Department of Hand Surgery, Beijing Jishuitan Hospital 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Baqiyatallah University of Medical Sciences 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 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.