ClinVar Miner

Variants studied for connective tissue neoplasm

Included ClinVar conditions (128):
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
592 331 867 225 245 28 2 1 17 2228

Gene and significance breakdown #

Total genes and gene combinations: 137
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CEBPA 17 4 217 60 11 0 0 0 0 308
EXT1 189 8 62 16 21 0 0 0 0 291
EXT2 82 2 69 32 40 0 0 0 1 206
ANTXR2 10 5 102 15 29 0 0 0 0 161
MTAP 2 0 64 3 56 0 0 0 0 125
MPL 25 6 37 47 14 0 1 0 0 115
AIP 14 49 18 19 17 0 0 0 0 103
PDGFRB 15 1 18 16 33 0 0 0 1 81
CASR 11 0 41 8 15 0 0 0 0 75
TP53 9 63 4 0 0 0 0 0 0 73
NF1 25 3 26 0 0 0 0 0 0 54
CHEK2 9 1 34 0 0 0 0 0 0 44
APC 16 1 23 0 1 0 0 0 1 42
THPO 4 0 23 6 5 0 0 0 0 38
FLT3 11 26 0 0 0 0 0 0 1 37
PTPN11 27 3 4 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
KIT 3 3 11 0 0 0 0 0 1 18
CDH23 6 1 10 0 0 0 0 0 0 17
NSDHL 12 4 0 0 1 0 0 0 0 17
NRAS 3 15 0 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
KRAS 7 6 2 0 0 0 0 0 0 12
DNMT3A 6 4 0 0 0 0 0 0 0 10
NPM1 6 4 0 0 0 0 0 0 0 10
GATA2 0 2 6 0 0 0 0 0 0 8
GNAS 6 0 2 0 0 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 0 0 8
INSL6, JAK2 3 4 1 0 0 0 0 0 2 8
NOTCH3 3 4 1 0 0 0 0 0 1 8
NSD1 3 1 4 0 0 0 0 0 0 8
RUNX1 0 5 3 0 0 0 0 0 0 8
TERT 1 1 6 0 0 0 0 0 0 8
TSC2 0 1 5 1 0 0 0 1 0 8
JAK3 0 7 0 0 0 0 0 0 0 7
IDH1 6 0 0 0 0 0 0 0 0 6
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
FGFR1 2 3 2 0 0 0 0 0 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 1 1 0 0 0 0 0 0 4
ELMO2 3 0 1 0 0 0 0 0 0 4
MEN1 2 2 0 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
MSH2 0 0 3 0 0 0 0 0 0 3
NT5C2 0 0 0 0 0 0 0 0 3 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
CDH1 0 0 2 0 0 0 0 0 0 2
CSF3R 0 2 0 0 0 0 0 0 0 2
DDX41 2 0 0 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 0 0 2
ERCC2 0 1 0 0 0 0 0 0 1 2
ETV6 2 0 0 0 0 0 0 0 0 2
FGFR3 0 2 0 0 0 0 0 0 0 2
FH 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
LOC110806263, TERT 0 0 2 0 0 0 0 0 0 2
MN1 0 2 0 0 0 0 0 0 0 2
RECQL4 1 1 0 0 0 0 0 0 0 2
SOS1 0 0 2 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
ADCY5 0 0 1 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
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, MIR9-1, MIR9-1HG, MRPL24, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RHBG, RRNAD1, 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
C17orf107, CHRNE 0 0 1 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 0 0 1
CHRNE 0 1 0 0 0 0 0 0 0 1
COL1A2 0 0 1 0 0 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 0 0 1
CREBBP 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
ERBB3 0 1 0 0 0 0 1 0 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 0 1
GATA1 1 0 0 0 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 0 1
KCNQ1 0 1 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
LRP2 0 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 0 1
MSH6 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
POLR3B 0 0 1 0 0 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 0 0 1
RAF1 0 0 1 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
SHOC2 0 0 1 0 0 0 0 0 0 1
SLC6A3 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
TBC1D24 1 0 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: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Invitae 276 15 314 108 83 0 0 0 0 796
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 8 248
Fulgent Genetics,Fulgent Genetics 69 10 144 1 1 0 0 0 0 225
OMIM 143 0 0 0 0 0 2 0 0 145
GeneReviews 18 48 5 9 3 0 0 0 0 83
Clinical Genomics Lab,St. Jude Children's Research Hospital 6 3 44 0 0 0 0 0 0 53
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 0 28
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 7 12 1 0 0 0 0 0 27
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
Baylor Genetics 2 3 1 0 0 0 0 0 0 6
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 0 0 6
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 4 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 2 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
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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 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
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
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
Johns Hopkins Genomics,Johns Hopkins University 0 0 2 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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing 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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 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 0 1
Breda Genetics srl 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
Michigan Center for Translational Pathology,University of Michigan 1 0 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

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