ClinVar Miner

Variants studied for bone cancer

Included ClinVar conditions (54):
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 risk factor other not provided total
180 226 316 71 22 2 1 13 806

Gene and significance breakdown #

Total genes and gene combinations: 87
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
CEBPA 15 2 140 32 10 0 0 0 199
MPL 13 4 30 34 10 1 0 0 82
TP53 9 63 4 0 0 0 0 0 73
NF1 19 1 24 0 0 0 0 0 44
CHEK2 9 1 33 0 0 0 0 0 43
FLT3 11 26 0 0 0 0 0 1 37
PTPN11 27 3 3 1 0 0 0 0 34
ABL1 2 26 0 0 0 0 0 1 28
THPO 3 0 11 4 2 0 0 0 20
KIT 3 3 11 0 0 0 0 1 18
NRAS 3 15 0 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
SF3B1 0 13 0 0 0 0 0 0 13
KRAS 7 6 1 0 0 0 0 0 11
NPM1 5 4 0 0 0 0 0 0 9
DNMT3A 6 2 0 0 0 0 0 0 8
GATA2 0 2 6 0 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 0 8
NSD1 3 1 4 0 0 0 0 0 8
INSL6, JAK2 3 4 0 0 0 0 0 2 7
JAK3 0 7 0 0 0 0 0 0 7
RUNX1 0 5 2 0 0 0 0 0 7
TERT 0 1 6 0 0 0 0 0 7
IDH1 6 0 0 0 0 0 0 0 6
RB1 2 0 4 0 0 0 0 0 6
BRCA2 0 0 4 0 0 0 0 0 4
CBL 3 1 1 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
SH2B3 3 0 1 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 4
ARHGAP26 3 0 0 0 0 0 0 0 3
MSH2 0 0 3 0 0 0 0 0 3
NT5C2 0 0 0 0 0 0 0 3 3
TSC2 0 0 2 0 0 0 1 0 3
BCR 0 0 0 0 0 0 0 2 2
CSF3R 0 2 0 0 0 0 0 0 2
DDX41 2 0 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 0 2
ETV6 2 0 0 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 2
LOC110806263, TERT 0 0 2 0 0 0 0 0 2
RECQL4 1 1 0 0 0 0 0 0 2
TMEM127 0 0 2 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ACP3 0 0 1 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 0 1
ASXL1 0 0 1 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BRAF 0 1 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 1 0 0 1
ERCC2 0 0 0 0 0 0 0 1 1
ETV6, FLT3 0 1 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
GATA1 1 0 0 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 1
PAX5 0 0 1 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 1
SETBP1 0 0 0 0 0 0 0 1 1
SF3B2 0 1 0 0 0 0 0 0 1
SHOC2 0 0 1 0 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
SRC 1 0 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 1
TEK 0 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Database of Curated Mutations (DoCM) 30 207 0 0 0 0 0 8 244
Invitae 10 4 150 35 17 0 0 0 216
Fulgent Genetics,Fulgent Genetics 51 3 102 1 0 0 0 0 157
Illumina Clinical Services Laboratory,Illumina 0 0 30 35 3 0 0 0 68
OMIM 60 0 0 0 0 2 0 0 62
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 2 25 0 0 0 0 0 29
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 14 1 0 0 0 0 0 0 15
GeneReviews 6 0 0 0 3 0 0 0 9
McDonnell Genome Institute,Washington University in St. Louis 2 0 7 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 4 0 0 0 0 0 7
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 4
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 3 0 1 0 0 0 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 3 0 0 0 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 0 0 3
Laboratory of Molecular Diagnostics and Monitoring of CML and Ph+ Leukemias, Institute of Hematology and Blood Transfusion 0 0 0 0 0 0 0 3 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 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 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma,Memorial Sloan Kettering Cancer Center 1 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 1
Molecular Haematology Laboratory,NSW Health Pathology 1 0 0 0 0 0 0 0 1

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