ClinVar Miner

Variants studied for osteosclerosis

Included ClinVar conditions (39):
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
200 251 1054 431 281 12 2141

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FERMT3 15 5 194 229 36 1 471
TCIRG1 56 125 209 27 16 1 394
LRP5 6 4 154 95 8 2 269
CLCN7 18 18 117 11 45 5 203
ANKH, OTULIN 0 0 87 1 62 0 150
CTSK 27 71 35 8 3 0 129
TNFRSF11A 8 4 66 17 16 0 108
OSTM1 5 1 58 8 29 0 100
CA2 8 4 24 9 5 0 47
ANKH 4 2 9 2 28 0 44
AMER1 14 6 18 5 0 1 43
TNFSF11 3 1 23 2 7 0 36
LOC130009662, TNFSF11 0 0 13 3 5 2 22
ANKH, LOC100130744, OTULIN 3 0 0 2 11 0 14
CLCN7, LOC130058166 0 0 8 1 1 0 10
LRRK1 5 0 4 1 0 0 10
CA2, CA3 1 0 6 0 1 0 8
LOC126861753, TNFSF11 1 0 6 0 1 0 8
LOC130062628, TNFRSF11A 0 0 5 2 1 0 8
MAP2K1 5 0 0 3 0 0 8
LOC129996933, OSTM1 1 0 4 2 0 0 7
PLEKHM1 3 1 2 0 1 0 7
SNX10 2 2 1 1 1 0 7
GJA1 2 0 2 0 0 0 4
LOC126861752, TNFSF11 0 0 1 1 2 0 3
SLC4A2 2 0 1 0 0 0 3
​intergenic 1 1 0 0 0 0 2
ANKH, LOC129993725 0 0 1 0 1 0 2
FERMT3, LOC130005912 0 0 2 0 0 0 2
ITGB2 0 2 0 0 0 0 2
LEMD3 2 0 0 0 0 0 2
MIR6753, TCIRG1 0 2 0 0 0 0 2
NDUFS8, TCIRG1 0 0 0 1 1 0 2
SOST 2 0 0 0 0 0 2
AHNAK, ARL2, ASRGL1, ATG2A, ATL3, B3GAT3, BAD, BATF2, BEST1, BSCL2, CAPN1, CATSPERZ, CBLIF, CCDC86, CCDC88B, CD5, CD6, CDC42BPG, CDCA5, CHRM1, COX8A, CPSF7, CSKMT, CYB561A3, DAGLA, DDB1, DNAJC4, DTX4, EEF1G, EHD1, EML3, ESRRA, FADS1, FADS2, FADS3, FAM111A, FAU, FEN1, FERMT3, FKBP2, FLRT1, FTH1, GANAB, GNG3, GPHA2, GPR137, HNRNPUL2, INCENP, INTS5, KCNK4, LBHD1, LGALS12, LRRC10B, LRRN4CL, MACROD1, MAJIN, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MPEG1, MRPL16, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTA2, MYRF, NAA40, NAALADL1, NRXN2, NUDT22, NXF1, OOSP2, OR10V1, OR4D10, OR4D11, OR4D6, OR4D9, OR5A1, OR5A2, OR5AN1, OSBP, OTUB1, PATL1, PGA3, PGA4, PGA5, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, POLR2G, PPP1R14B, PPP2R5B, PRDX5, PRPF19, PTGDR2, PYGM, RAB3IL1, RASGRP2, RCOR2, ROM1, RPS6KA4, RTN3, SAC3D1, SAXO4, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SDHAF2, SF1, SLC15A3, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SPDYC, SPINDOC, STIP1, STX3, STX5, SYT7, SYVN1, TAF6L, TCN1, TKFC, TM7SF2, TMEM109, TMEM132A, TMEM138, TMEM179B, TMEM216, TMEM223, TMEM258, TRMT112, TRPT1, TTC9C, TUT1, UBXN1, UQCC3, VEGFB, VPS37C, VPS51, VWCE, WDR74, ZBTB3, ZFPL1, ZFTA, ZNHIT2, ZP1 0 0 1 0 0 0 1
AMER1, ARHGEF9, ARHGEF9-IT1, ASB12, LAS1L, LINC01278, LOC113875034, LOC121627974, LOC121853058, LOC128031833, LOC130068356, LOC130068357, LOC130068358, LOC130068359, LOC130068360, LOC130068361, LOC130068362, LOC130068363, LOC130068364, LOC130068365, LOC130068366, LOC130068367, LOC130068368, LOC130068369, LOC130068370, LOC130068371, LOC130068372, LOC130068373, LOC130068374, MIR1468, MTMR8, NLRP2B, SPIN4, ZC3H12B, ZC4H2, ZXDA, ZXDB 1 0 0 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8 1 0 0 0 0 0 1
AMER1, LOC130068366, LOC130068367 1 0 0 0 0 0 1
AMER1, LOC130068367, LOC130068368 1 0 0 0 0 0 1
CLCNKB, LOC106501713 0 1 0 0 0 0 1
CTNNB1 0 0 1 0 0 0 1
G6PD, IKBKG, LOC108281126 0 0 1 0 0 0 1
LEMD3, LOC130008224 1 0 0 0 0 0 1
LOC129998145, LOC129998146, LOC129998147, SNX10 0 0 1 0 0 0 1
PLA2G6 0 1 0 0 0 0 1
SLC29A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 2 1 492 57 201 0 753
Labcorp Genetics (formerly Invitae), Labcorp 5 4 192 225 36 0 462
Fulgent Genetics, Fulgent Genetics 12 10 198 117 6 0 343
Baylor Genetics 55 100 11 0 0 0 166
Natera, Inc. 12 4 101 24 16 0 157
Counsyl 8 62 33 1 0 0 104
Genome-Nilou Lab 2 17 11 2 55 0 87
OMIM 82 0 0 0 0 0 82
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 7 5 21 0 35
Revvity Omics, Revvity 8 3 16 0 0 0 27
Myriad Genetics, Inc. 1 25 1 0 0 0 27
Molecular Lab, Department of Haematology, Christian Medical College 18 4 1 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 0 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 3 7 6 0 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 6 5 0 0 0 14
3billion 6 5 3 0 0 0 14
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 9 2 1 0 0 0 12
Mendelics 5 2 1 1 1 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 2 3 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 7 0 0 0 8
Hadassah Hebrew University Medical Center 0 6 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 4 1 0 0 0 6
Women's and Children's Health, University of Otago 6 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 0 0 0 5
Hereditary Research Laboratory, Bethlehem University 4 0 1 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 1 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 0 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 0 3
Lifecell International Pvt. Ltd 1 2 0 0 0 0 3
DASA 2 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Human Genetics Unit, University Of Colombo 1 0 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Dr.Nikuei Genetic Center 1 0 0 1 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center for Molecular Medicine, Karolinska Institute 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 1
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 0 1
Koker Lab, University of Erciyes Medical School 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
NIDO Danmark, Gødstrup Hospital 0 1 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 0 1 0 0 0 0 1
Mashhad Undiagnosed Diseases Center, Mashhad University Of Medical Sciences 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 0 1

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