ClinVar Miner

Variants studied for connective tissue neoplasm

Included ClinVar conditions (121):
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
680 353 1016 348 246 28 2 2 14 2597

Gene and significance breakdown #

Total genes and gene combinations: 137
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CEBPA 17 5 283 106 11 0 0 0 0 420
EXT1 222 11 94 25 21 0 0 0 0 366
EXT2 95 2 94 48 40 0 0 0 1 257
MPL 37 10 43 91 14 0 1 0 0 180
ANTXR2 14 7 103 15 29 0 0 0 0 167
MTAP 2 0 64 3 56 0 0 0 0 125
AIP 14 49 20 19 17 0 0 0 0 104
PDGFRB 16 1 22 25 33 0 0 0 1 95
CASR 12 0 41 8 15 0 0 0 0 76
TP53 9 63 4 0 0 0 0 0 0 73
NF1 25 3 27 0 0 0 0 0 0 55
APC 19 1 25 0 1 0 0 0 1 47
CHEK2 9 1 33 0 0 0 0 0 0 43
THPO 6 1 25 6 5 0 0 0 0 42
FLT3 11 26 0 0 0 0 0 0 1 37
PTPN11 27 4 3 1 0 0 0 0 0 35
ABL1 2 26 0 0 0 0 0 0 1 28
MED12 0 0 0 0 0 28 0 0 0 28
CDH23 6 1 15 0 0 0 0 0 0 22
KIT 3 3 11 0 0 0 0 0 1 18
NSDHL 12 4 0 0 1 0 0 0 0 17
NRAS 3 15 0 0 0 0 0 0 0 15
RUNX1 1 7 7 0 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 0 13
SF3B1 0 13 0 0 0 0 0 0 0 13
GATA1 11 0 0 0 0 0 0 0 0 11
KRAS 7 6 1 0 0 0 0 0 0 11
DNMT3A 6 4 0 0 0 0 0 0 0 10
FGFR1 3 3 6 0 0 0 0 0 0 10
GATA2 0 2 8 0 0 0 0 0 0 10
INSL6, JAK2 3 4 3 0 0 0 0 0 2 10
NOTCH3 3 4 3 0 0 0 0 0 1 10
NPM1 6 4 0 0 0 0 0 0 0 10
GNAS 7 0 2 0 0 0 0 0 0 9
NSD1 4 1 4 0 0 0 0 0 0 9
TERT 1 1 7 0 0 0 0 0 0 9
IDH2 6 2 0 0 0 0 0 0 0 8
IDH1 6 0 1 0 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 0 7
RB1 2 0 4 0 0 0 0 0 0 6
C10orf105, CDH23 1 0 4 0 0 0 0 0 0 5
CTNNB1 1 4 0 0 0 0 0 0 0 5
DDX41 3 2 0 0 0 0 0 0 0 5
ELMO2 3 1 1 0 1 0 0 0 0 5
TSC2 0 0 4 0 0 0 0 1 0 5
USP8 5 0 0 0 0 0 0 0 0 5
BRCA2 0 0 4 0 0 0 0 0 0 4
CBL 3 2 1 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 0 0 0 4
TSC1 0 0 4 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
ETV6 3 0 0 0 0 0 0 0 0 3
MEN1 1 2 0 0 0 0 0 0 0 3
PTCH1 0 0 3 0 0 0 0 0 0 3
SH2B3 2 0 1 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 0 0 2
ALK 0 0 2 0 0 0 0 0 0 2
ASXL1 1 0 1 0 0 0 0 0 0 2
BCR 0 0 0 0 0 0 0 0 2 2
CALR 2 0 0 0 0 0 0 0 0 2
CBFA2T3 2 0 0 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
ERCC2 0 1 0 0 0 0 0 0 1 2
FGFR3 0 2 0 0 0 0 0 0 0 2
GNAI2 1 0 1 0 0 0 0 0 0 2
GPR101 2 0 2 0 0 0 0 0 0 2
JAK1 0 2 0 0 0 0 0 0 0 2
LOC110806263, TERT 0 0 2 0 0 0 0 0 0 2
MN1 0 2 0 0 0 0 0 0 0 2
PCSK7 0 0 2 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
TMEM127 0 0 2 0 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 0 2
ACP3 0 0 1 0 0 0 0 0 0 1
ACTL6A 0 1 0 0 0 0 0 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 0 0 1
ALX4 0 0 1 0 0 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 0 1
ATRX 1 0 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 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 0 1 1
BMPR1A 0 0 1 0 0 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 0 0 1
BRCA1 0 0 1 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
CUX2, SH2B3 1 0 0 0 0 0 0 0 0 1
DHFR, MSH3 0 0 1 0 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
ETV6, FLT3 0 1 0 0 0 0 0 0 0 1
FH 0 1 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 0 0 0 1
KDM5A, NUP98 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
KMT2D 0 1 0 0 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
LPP 0 0 1 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 0 0 1 0 1
MFSD11, SRSF2 0 1 0 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
PAX5 0 0 1 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 0 1
PHOX2B 0 0 1 0 0 0 0 0 0 1
PMS2 0 1 0 0 0 0 0 0 0 1
PTEN 1 0 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
SLC9A2 0 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 1
SRC 1 1 0 0 0 0 0 0 0 1
STK11 0 0 1 0 0 0 0 0 0 1
SUFU 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

Submitter and significance breakdown #

Total submitters: 87
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 327 21 438 232 83 0 0 0 0 1101
Illumina Clinical Services Laboratory,Illumina 0 0 321 106 168 0 0 0 0 595
Database of Curated Mutations (DoCM) 30 211 0 0 0 0 0 0 5 245
Fulgent Genetics,Fulgent Genetics 69 10 144 1 1 0 0 0 0 225
OMIM 146 0 0 0 0 0 2 0 0 148
GeneReviews 19 48 5 9 3 0 0 0 0 84
Baylor Genetics 14 5 31 0 0 0 0 0 0 50
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 6 3 31 1 0 0 0 0 0 41
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 0 28
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 0 25
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 2 13 0 0 0 0 0 0 21
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 15 1 0 0 0 0 0 0 0 16
Mendelics 0 1 6 2 4 0 0 0 0 13
Demoulin lab,University of Louvain 13 0 0 0 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 7 4 0 0 0 0 0 0 0 11
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 4 0 0 0 0 0 0 7
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 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
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 0 0 0 5
Bone Marrow Failure laboratory,Queen Mary University London 2 3 0 0 0 0 0 0 0 5
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 4 0 1 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 0 0 0 0 0 0 5
Genome Sciences Centre,British Columbia Cancer Agency 0 3 1 0 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine,Istanbul University 2 2 0 0 0 0 0 0 0 4
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 1 1 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 1 0 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 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 0 3 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 0 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 0 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 1 1 0 0 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 1 0 0 0 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 0 0 0 2
Center for Applied Genomics,Children's Hospital of Philadelphia 0 0 0 0 0 0 0 0 2 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 0 0 0 2
Korbonits Lab,Queen Mary University of London 0 1 1 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 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
Breda Genetics srl 2 0 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
Department of Cell Biology,School of Life Sciences, Central South University 2 0 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University 1 0 0 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
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 0 0 1
Hunter Genetics General Clinical Genetics Service,Hunter Genetics 1 0 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Department,Hospital Sant Joan de Deu 1 0 0 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 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 0 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University 1 0 0 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 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 0 1
Department of Pediatrics,Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 0 0 1

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