ClinVar Miner

Variants studied for autosomal recessive osteopetrosis

Included ClinVar conditions (15):
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
109 143 611 290 127 7 1236

Gene and significance breakdown #

Total genes and gene combinations: 23
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FERMT3 15 5 194 229 36 1 471
TCIRG1 52 109 207 26 16 1 374
TNFRSF11A 8 4 61 8 14 0 95
OSTM1 4 0 51 8 28 0 90
CA2 8 4 24 9 5 0 47
CLCN7 10 13 11 0 10 3 47
TNFSF11 3 1 21 2 7 0 34
LOC130009662, TNFSF11 0 0 13 3 4 2 22
CA2, CA3 1 0 6 0 1 0 8
LOC126861753, TNFSF11 1 0 6 0 1 0 8
LOC129996933, OSTM1 1 0 4 2 0 0 7
SNX10 2 2 1 1 1 0 7
LOC130062628, TNFRSF11A 0 0 4 0 1 0 5
LOC126861752, TNFSF11 0 0 1 1 2 0 3
PLEKHM1 1 0 2 0 0 0 3
SLC4A2 2 0 1 0 0 0 3
​intergenic 1 1 0 0 0 0 2
CLCN7, LOC130058166 0 0 0 1 1 0 2
FERMT3, LOC130005912 0 0 2 0 0 0 2
ITGB2 0 2 0 0 0 0 2
MIR6753, TCIRG1 0 2 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
LOC129998145, LOC129998146, LOC129998147, SNX10 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 4 192 225 36 0 462
Illumina Laboratory Services, Illumina 1 1 254 31 69 0 356
Natera, Inc. 9 3 96 17 13 0 138
Baylor Genetics 37 58 7 0 0 0 102
Fulgent Genetics, Fulgent Genetics 7 5 39 17 1 0 69
Counsyl 8 32 27 1 0 0 68
OMIM 40 0 0 0 0 0 40
Genome-Nilou Lab 0 0 2 1 21 0 24
Molecular Lab, Department of Haematology, Christian Medical College 16 4 1 0 0 0 21
Revvity Omics, Revvity 5 3 6 0 0 0 14
Myriad Genetics, Inc. 1 11 1 0 0 0 13
3billion 5 4 3 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 5 4 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 3 0 0 0 9
Hadassah Hebrew University Medical Center 0 6 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 1 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Mendelics 2 0 0 0 1 0 3
GeneReviews 0 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
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
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 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.