ClinVar Miner

Variants studied for connective tissue neoplasm

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
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Gene type:
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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
359 305 443 178 93 28 2 1 16 1383

Gene and significance breakdown #

Total genes and gene combinations: 126
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
CEBPA 14 1 102 32 10 0 0 0 0 159
AIP 14 49 13 24 5 0 0 0 0 93
MTAP 2 0 26 38 19 0 0 0 0 85
TP53 9 63 4 0 0 0 0 0 0 73
MPL 5 2 28 34 10 0 1 0 0 71
EXT1 54 4 1 0 2 0 0 0 0 61
CASR 11 0 16 19 12 0 0 0 0 58
NF1 23 1 25 0 0 0 0 0 0 49
ANTXR2 10 3 19 8 6 0 0 0 0 46
CHEK2 9 1 33 0 0 0 0 0 0 43
APC 16 1 23 0 1 0 0 0 1 42
EXT2 28 1 4 2 7 0 0 0 0 41
FLT3 11 26 0 0 0 0 0 0 1 37
TINF2 2 1 12 15 3 0 0 0 0 33
PDGFRB 9 1 8 0 14 0 0 0 1 31
PTPN11 23 3 4 1 0 0 0 0 0 31
MED12 0 0 0 0 0 28 0 0 0 28
ABL1 0 26 0 0 0 0 0 0 1 27
THPO 3 0 11 4 2 0 0 0 0 20
KIT 3 3 11 0 0 0 0 0 1 18
CDH23 6 1 10 0 0 0 0 0 0 17
NRAS 2 15 0 0 0 0 0 0 0 15
NSDHL 12 3 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 6 5 2 0 0 0 0 0 0 10
NPM1 5 4 0 0 0 0 0 0 0 9
DNMT3A 6 2 0 0 0 0 0 0 0 8
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
NOTCH3 3 4 1 0 0 0 0 0 1 8
NSD1 3 1 4 0 0 0 0 0 0 8
INSL6, JAK2 3 4 0 0 0 0 0 0 2 7
JAK3 0 7 0 0 0 0 0 0 0 7
RUNX1 0 5 2 0 0 0 0 0 0 7
TERT 0 1 6 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
TSC2 0 0 5 0 0 0 0 1 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
USP8 5 0 0 0 0 0 0 0 0 5
BRCA2 0 0 4 0 0 0 0 0 0 4
CBL 3 0 1 0 0 0 0 0 0 4
ELMO2 3 0 1 0 0 0 0 0 0 4
FGFR1 2 3 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
SH2B3 3 0 1 0 0 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
MEN1 1 2 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
​intergenic 1 0 1 0 0 0 0 0 0 2
ALK 0 0 2 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
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
TMEM127 0 0 2 0 0 0 0 0 0 2
WT1 0 1 1 0 0 0 0 0 0 2
ACPP 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
ARID1B 1 0 0 0 0 0 0 0 0 1
ASXL1 0 0 1 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, C1orf61, CCT3, CRABP2, GLMP, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, LMNA, MEF2D, MIR9-1, 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
CALR 1 0 0 0 0 0 0 0 0 1
CDKN2A 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
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
FH 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
GNAI2 1 0 0 0 0 0 0 0 0 1
JAK1 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
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
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
SLC9A2 0 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 0 1
SRC 1 0 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
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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 110 130 48 0 0 0 0 288
Invitae 68 4 121 37 40 0 0 0 0 270
Database of Curated Mutations (DoCM) 30 211 0 0 0 0 0 0 8 248
Fulgent Genetics 69 10 144 1 1 0 0 0 0 225
OMIM 142 0 0 0 0 0 2 0 0 144
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
Genetic Services Laboratory, University of Chicago 7 4 0 0 0 0 0 0 0 11
McDonnell Genome Institute,Washington University in St. Louis 2 0 7 0 0 0 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 3 0 0 0 0 0 0 8
Demoulin lab,University of Louvain 7 0 0 0 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 4 0 0 0 0 0 0 7
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 0 0 0 0 0 0 0 0 5
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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 3 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
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 2 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 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 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 2 0 0 0 0 3
Baylor Miraca Genetics Laboratories, 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
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 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
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
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
Dobyns Lab,Seattle Children's Research Institute 1 0 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
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
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
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
Molecular Haematology Laboratory,NSW Health Pathology 1 0 0 0 0 0 0 0 0 1

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