ClinVar Miner

Variants studied for immune system 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 association risk factor not provided total
442 534 1570 774 109 1 4 21 3388

Gene and significance breakdown #

Total genes and gene combinations: 153
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CEBPA 32 15 579 259 13 0 0 11 898
NF1 112 80 489 84 1 0 0 0 765
MPL 99 28 96 344 15 0 0 0 575
TP53 16 111 11 0 7 0 0 0 142
RUNX1 7 13 91 7 10 0 0 0 125
PTPN11 39 14 29 18 14 0 0 0 109
GATA2 1 3 80 1 0 0 0 0 85
CBL 5 5 42 5 15 0 0 0 68
TERT 1 2 19 17 14 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 43
FLT3 12 28 0 0 0 0 0 1 40
ABL1 2 26 0 5 0 1 0 1 33
NPM1 8 4 12 2 0 0 0 0 26
KRAS 9 9 4 6 0 0 0 0 25
KIT 3 3 13 3 0 0 0 1 23
BRAF 0 20 0 0 0 0 0 0 20
PDGFRB 2 0 1 2 13 0 0 0 18
DNMT3A 7 8 2 0 1 0 0 0 17
NRAS 5 15 0 0 0 0 0 0 15
LIG4 2 0 12 0 0 0 0 0 14
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
SF3B1 2 13 0 0 0 0 0 0 13
GATA1 11 0 0 0 0 0 0 0 11
INSL6, JAK2 2 4 3 1 1 0 0 2 11
IDH2 6 5 0 0 0 0 0 0 8
SH2B3 1 2 3 1 1 0 0 0 8
BCR 0 0 4 1 0 0 0 2 7
IDH1 6 5 1 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 7
LOC111811965, MIR4733HG, NF1 1 0 5 1 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 7
TCF3 0 4 3 0 0 0 0 0 7
DDX41 4 2 0 0 0 0 0 0 6
HAVCR2 1 1 3 0 1 0 3 0 6
B2M 0 5 0 0 0 0 0 0 5
CBL, LOC130006895 0 0 1 3 1 0 0 0 5
FGFR3 3 3 0 0 0 0 0 0 5
CDK4 0 4 0 0 0 0 0 0 4
ITPKB 1 2 1 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
PTEN 2 2 0 0 0 0 0 0 4
TET2 1 2 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
ASXL1 2 0 1 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 3
PDGFRA 1 2 0 0 0 0 0 0 3
PIK3CA 0 3 0 0 0 0 0 0 3
SRC 1 1 2 0 0 0 0 0 3
WT1 0 1 2 0 0 0 0 0 3
ATM 1 1 0 0 0 0 0 0 2
CALR 1 0 1 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 2
CBL, FRA11B, LOC130006894 0 0 2 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
ETV6 1 0 0 0 0 0 0 1 2
FAT1 0 2 0 0 0 0 0 0 2
ITPKB, LOC129932672 0 1 0 1 0 0 0 0 2
KMT2C 0 2 0 0 0 0 0 0 2
LOC129934333, TMEM127 0 0 2 0 0 0 0 0 2
LPP 1 0 1 0 0 0 0 0 2
MFSD11, SRSF2 1 1 0 0 0 0 0 0 2
NOTCH1 2 0 0 0 0 0 0 0 2
SETD2 0 2 0 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
ARID4A 0 1 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, LOC126862036, LOC126862037, LOC126862038, LOC129390666, LOC130056381, LOC130056382, LOC130056383, LOC130056384, LOC130056385, LOC130056386, LOC130056387, LOC130056388, LOC130056389, LOC130056390, LOC130056391, LOC130056392, LOC130056393, LOC130056394, LOC130056395, LOC130056396, LOC130056397, LOC132090293, LOC132090294, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
AURKA 0 1 0 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 1
BCORL1 0 1 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BRCA2 0 1 0 0 0 0 0 0 1
CBFB 0 0 1 0 0 0 0 0 1
CDKN2C 0 1 0 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
CRBN, TRNT1 0 1 0 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 0 1
CUX1 0 0 1 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 0 1
EIF1AX 0 1 0 0 0 0 0 0 1
EPOR 0 1 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 0 1 0 1
ERF 0 1 0 0 0 0 0 0 1
ETV6, FLT3 0 1 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 1
EVI2A, NF1 1 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 0 1
HDAC4 0 1 0 0 0 0 0 0 1
IKZF1 0 0 1 0 0 0 0 0 1
IL18BP, NUMA1 0 0 0 1 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 0 1
JAK1, LOC126805749 0 1 0 0 0 0 0 0 1
KDM5A, NUP98 1 0 0 0 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 0 0 1
KLK2 1 0 0 0 1 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
KMT2D 0 1 0 0 0 0 0 0 1
LATS1 0 1 0 0 0 0 0 0 1
LOC100128494, NUMA1 0 0 0 1 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
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 1
LOC126807054, PDGFRA 0 1 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 1
LOC130003020, NOTCH1 1 0 0 0 0 0 0 0 1
LOC130063979, PIK3R2 0 1 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 0 1
MLLT10 0 0 1 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 0 1
MYD88 0 1 0 0 0 0 0 0 1
NCOR2 0 1 0 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 0 1
NUP214 0 0 1 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 1
PIK3R2 0 1 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
RECQL4 0 1 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 0 1
SAMHD1 0 1 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
SGK1 0 1 0 0 0 0 0 0 1
SH3GL1 0 0 0 0 1 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 0 1
SOX3 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
TET3 0 1 0 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1
YAP1 0 1 0 0 0 0 0 0 1
ZCCHC8 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 109 24 677 613 28 0 0 0 1451
Baylor Genetics 94 71 615 2 0 0 0 0 782
Fulgent Genetics, Fulgent Genetics 71 25 289 138 10 0 0 0 533
Database of Curated Mutations (DoCM) 30 296 0 0 0 0 0 4 321
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 16 64 1 0 0 82
OMIM 54 0 0 0 0 0 4 0 58
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 0 0 53
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 20 1 18 3 1 0 0 0 43
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 25
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 7 11 4 1 0 0 0 0 23
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 23
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 1 0 0 0 0 0 0 16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 12 1 0 0 0 0 15
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 6 8 1 0 0 0 0 0 15
GeneReviews 0 0 0 0 0 0 0 10 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 Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 5 0 0 0 0 0 7
Johns Hopkins Genomics, Johns Hopkins University 0 1 6 0 0 0 0 0 7
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 0 0 0 0 0 7
Revvity Omics, Revvity 0 0 6 0 0 0 0 0 6
Mendelics 4 2 0 0 0 0 0 0 6
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 4 0 0 0 0 0 0 6
Molecular Diagnostics Laboratory, University of Rochester Medical Center 5 1 0 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 1 2 1 1 0 0 0 0 5
Institute of Laboratory Medicine, Hospital Wels-Grieskirchen 4 0 1 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 0 0 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 2 0 0 0 0 0 0 4
Druker Lab, Oregon Health and Sciences University 3 0 1 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 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 3 3
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 1 0 0 0 0 0 3
3billion 0 2 0 1 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 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
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 0 0 2
Godley laboratory, The University of Chicago 2 0 0 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 0 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 1
Department of Zoology, Division of Science and Technology, University of Education 1 0 0 0 0 0 0 0 1
Dr. Afia Zoology Lab, University of Education 0 0 0 0 1 0 0 0 1
Shandong Key Laboratory of Immunohematology, Qilu Hospital, Shandong University 1 0 0 0 0 0 0 0 1
Eleanor M. Freitas Health Laboratory 0 0 0 0 1 0 0 0 1

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