ClinVar Miner

Variants studied for connective tissue cancer

Included ClinVar conditions (66):
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
241 256 499 205 32 2 2 10 1210

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
CEBPA 17 5 283 106 11 0 0 0 420
MPL 37 10 43 91 14 1 0 0 180
TP53 9 63 4 0 0 0 0 0 73
NF1 21 3 26 0 0 0 0 0 50
CHEK2 9 1 33 0 0 0 0 0 43
THPO 6 1 25 6 5 0 0 0 42
FLT3 11 26 0 0 0 0 0 1 37
PTPN11 27 4 3 1 0 0 0 0 35
ABL1 2 26 0 0 0 0 0 1 28
KIT 3 3 11 0 0 0 0 1 18
NRAS 3 15 0 0 0 0 0 0 15
RUNX1 1 7 7 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
GATA1 11 0 0 0 0 0 0 0 11
KRAS 7 6 1 0 0 0 0 0 11
DNMT3A 6 4 0 0 0 0 0 0 10
GATA2 0 2 8 0 0 0 0 0 10
INSL6, JAK2 3 4 3 0 0 0 0 2 10
NPM1 6 4 0 0 0 0 0 0 10
NSD1 4 1 4 0 0 0 0 0 9
TERT 1 1 7 0 0 0 0 0 9
IDH2 6 2 0 0 0 0 0 0 8
IDH1 6 0 1 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 7
EXT1 4 0 2 0 0 0 0 0 6
RB1 2 0 4 0 0 0 0 0 6
DDX41 3 2 0 0 0 0 0 0 5
BRCA2 0 0 4 0 0 0 0 0 4
CBL 3 2 1 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 4
ARHGAP26 3 0 0 0 0 0 0 0 3
ETV6 3 0 0 0 0 0 0 0 3
SH2B3 2 0 1 0 0 0 0 0 3
ALK 0 0 2 0 0 0 0 0 2
ASXL1 1 0 1 0 0 0 0 0 2
BCR 0 0 0 0 0 0 0 2 2
CALR 2 0 0 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 2
JAK1 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
SETD2 0 2 0 0 0 0 0 0 2
TMEM127 0 0 2 0 0 0 0 0 2
TSC2 0 0 1 0 0 0 1 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
APC 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
BCAN, BGLAP, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, METTL25B, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, SEMA4A, SH2D2A, SLC25A44, SMG5, TMEM79, TSACC, TTC24, VHLL 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
CBFB 0 0 1 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 0 1
CEBPA, GPATCH1, LRP3, RHPN2, SLC7A10, WDR88 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
CUX2, SH2B3 1 0 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
EPOR 0 1 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
KDM5A, NUP98 1 0 0 0 0 0 0 0 1
KMT2A, MLLT6 1 0 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
LPP 0 0 1 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 0 1 0 1
MFSD11, SRSF2 0 1 0 0 0 0 0 0 1
MLLT10 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
PDGFRB 1 0 0 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
RAD21 0 1 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 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
SLC9A2 0 0 1 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
SRC 1 1 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 1
SUZ12 0 1 0 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: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 36 13 303 167 22 0 0 0 541
Database of Curated Mutations (DoCM) 30 207 0 0 0 0 0 5 241
Fulgent Genetics,Fulgent Genetics 51 3 102 1 0 0 0 0 157
Illumina Clinical Services Laboratory,Illumina 0 0 41 37 6 0 0 0 84
OMIM 63 0 0 0 0 2 0 0 65
Baylor Genetics 8 3 14 0 0 0 0 0 25
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 25
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 2 2 18 1 0 0 0 0 23
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 15 1 0 0 0 0 0 0 16
GeneReviews 7 0 0 0 3 0 0 0 10
NIHR Bioresource Rare Diseases, University of Cambridge 4 7 0 0 0 0 0 0 10
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
Bone Marrow Failure laboratory,Queen Mary University London 2 3 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 0 0 0 0 0 5
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 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 3 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 1 1 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 2 0 0 0 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 1 0 0 0 0 0 2
Knight Cancer Institute, Oregon Health and Science University 0 2 0 0 0 0 0 0 2
Molecular Haematology Laboratory,NSW Health Pathology 2 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 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 2
Mayo Clinic 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 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
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 1

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