ClinVar Miner

Variants studied for bone cancer

Included ClinVar conditions (72):
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 association risk factor other not provided total
451 392 1405 779 108 1 1 1 22 3106

Gene and significance breakdown #

Total genes and gene combinations: 119
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CEBPA 32 15 572 259 13 0 0 0 11 891
NF1 99 68 352 83 1 0 0 0 0 602
MPL 99 28 96 344 15 0 0 0 0 575
TP53 29 70 17 5 8 0 0 0 0 123
PTPN11 39 10 29 18 14 0 0 0 0 108
RUNX1 7 12 55 6 10 0 0 0 0 87
CBL 4 5 42 5 15 0 0 0 0 68
CHEK2 12 5 50 1 0 0 0 0 0 68
GATA2 1 3 47 1 0 0 0 0 0 52
TERT 1 2 19 17 14 0 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 0 43
FLT3 12 27 0 0 0 0 0 0 1 39
ABL1 2 26 0 5 0 1 0 0 1 33
NPM1 8 4 12 2 0 0 0 0 0 26
KIT 3 3 13 3 0 0 0 0 1 23
KRAS 8 6 4 6 0 0 0 0 0 21
PDGFRB 2 0 1 2 13 0 0 0 0 18
DNMT3A 7 7 2 0 1 0 0 0 0 16
NRAS 5 15 0 0 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 0 13
SF3B1 2 13 0 0 0 0 0 0 0 13
GATA1 11 0 0 0 0 0 0 0 0 11
INSL6, JAK2 2 4 4 1 1 0 0 0 2 11
RB1 3 0 7 1 0 0 0 0 0 11
IDH2 6 2 0 0 0 0 0 0 0 8
BCR 0 0 4 1 0 0 0 0 2 7
IDH1 6 0 1 0 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 0 7
DDX41 4 2 0 0 0 0 0 0 0 6
LOC111811965, MIR4733HG, NF1 1 0 4 1 0 0 0 0 0 6
SH2B3 1 1 3 0 1 0 0 0 0 6
TCF3 0 3 3 0 0 0 0 0 0 6
CBL, LOC130006895 0 0 1 3 1 0 0 0 0 5
ITPKB 1 2 1 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 0 4
PTEN 2 2 0 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 0 4
ARHGAP26 3 0 0 0 0 0 0 0 0 3
ASXL1 2 0 1 0 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 0 3
SRC 1 1 2 0 0 0 0 0 0 3
CALR 1 0 1 0 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 0 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 0 2
ETV6 1 0 0 0 0 0 0 0 1 2
FGFR3 0 2 0 0 0 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 0 2
LOC129934333, TMEM127 0 0 2 0 0 0 0 0 0 2
LPP 1 0 1 0 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 0 2
RECQL4 1 1 0 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 0 2
TET2 1 0 1 0 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 0 1
ACP3 0 0 1 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 1
ATM 1 0 0 0 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 0 1 1
BRAF 0 1 0 0 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 0 0 1 0 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 0 1
CUX2, SH2B3 0 0 0 1 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 0 1
EPOR 0 1 0 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 1 0 0 1
ERCC2 0 0 0 0 0 0 0 0 1 1
ETV6, FLT3 0 1 0 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 0 1
EVI2A, NF1 1 0 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 0 1
KLK2 1 0 0 0 0 0 0 0 0 1
KMT2A, MLLT6 1 0 0 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 0 1
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 0 1
NUP214 0 0 1 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 0 1
RAD21 0 1 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 0 1
SETBP1 0 0 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 1
SUZ12 0 1 0 0 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 1 0 1
ZCCHC8 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 109 24 677 613 28 0 0 0 0 1451
Fulgent Genetics, Fulgent Genetics 95 31 342 145 12 0 0 0 0 625
Baylor Genetics 81 59 365 1 0 0 0 0 0 506
Database of Curated Mutations (DoCM) 30 207 0 0 0 0 0 0 5 241
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 16 64 1 0 0 0 82
OMIM 55 0 0 0 0 0 1 0 0 56
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 19 2 15 3 1 0 0 0 0 40
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 0 25
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 11 4 1 0 0 0 0 0 23
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 3 12 1 0 0 0 0 0 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 1 0 0 0 0 0 0 0 16
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 0 0 0 15
GeneReviews 0 0 0 0 0 0 0 0 10 10
NIHR Bioresource Rare Diseases, University of Cambridge 4 7 0 0 0 0 0 0 0 10
McDonnell Genome Institute, Washington University in St. Louis 2 0 7 0 0 0 0 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 0 1 6 0 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 6 0 0 0 0 0 0 7
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 0 7
Fujian Institute of Hematology, Fujian Medical University 6 0 0 0 0 0 0 0 0 6
Bone Marrow Failure laboratory, Queen Mary University London 2 4 0 0 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 3 1 1 0 0 0 0 0 6
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 0 0 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 0 6
Mendelics 3 2 0 0 0 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 3 0 1 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 0 0 0 4
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 0 0 0 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 0 0 0 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 0 0 0 0 0 2
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 0 0 0 0 0 0 2
3billion 0 2 0 0 0 0 0 0 0 2
Hematopathology, The University of Texas M.D. Anderson Cancer Center 2 0 0 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 0 1
INSERM UMR 1170, INSERM 0 1 0 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1
Laboratory Oncology Unit, Dr.B.R.A. Institute Rotary Cancer Hospital, All India Institute of Medical Sciences 0 0 1 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 1 0 0 0 0 0 0 0 0 1

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