ClinVar Miner

Variants studied for acute leukemia

Included ClinVar conditions (46):
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
184 328 857 322 69 2 1 17 1747

Gene and significance breakdown #

Total genes and gene combinations: 110
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CEBPA 32 15 572 259 13 0 0 11 891
TP53 16 101 11 0 7 0 0 0 133
RUNX1 6 12 55 6 10 0 0 0 86
NBN 7 9 39 10 20 0 0 1 81
GATA2 1 3 47 1 0 0 0 0 52
TERT 1 2 19 17 14 0 0 0 52
CEBPA, LOC130064183 0 0 32 11 0 0 0 0 43
FLT3 13 27 0 0 0 0 0 1 40
NPM1 8 4 12 2 0 0 0 0 26
KIT 3 2 13 3 0 0 0 0 21
KRAS 5 6 4 6 0 0 0 0 20
IKZF1 1 6 9 0 0 2 0 0 18
SF3B1 1 18 0 0 0 0 0 0 18
DNMT3A 8 6 2 0 1 0 0 0 16
NRAS 1 15 0 0 0 0 0 0 15
PAX5 1 13 2 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
FBXW7 0 10 0 0 0 0 0 0 10
INSL6, JAK2 6 1 1 1 1 0 0 1 10
IDH2 6 2 0 0 0 0 0 0 8
BRAF 0 7 0 0 0 0 0 0 7
GATA1 7 0 0 0 0 0 0 0 7
IDH1 6 0 1 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 7
NSD1 3 1 3 0 0 0 0 0 7
DDX41 4 2 0 0 0 0 0 0 6
ERG 0 0 5 0 0 0 0 0 5
GNB1 2 1 0 2 0 0 0 0 5
PTPN11 1 4 0 0 0 0 0 0 5
BCR 0 0 3 1 0 0 0 0 4
CDKN2A 0 2 2 0 0 0 0 0 4
MIR181A1HG 4 0 0 0 0 0 0 0 4
MYC 4 0 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 0 4
ABL1 1 2 0 0 0 0 0 0 3
ETV6 2 0 0 0 0 0 0 1 3
JAK1, LOC126805749 0 3 0 0 0 0 0 0 3
LOC110806263, TERT 0 0 3 0 0 0 0 0 3
LOC126860438, NBN 1 0 0 1 2 0 0 0 3
PLCG2 0 3 0 0 0 0 0 0 3
XPO1 0 3 0 0 0 0 0 0 3
ATM 2 0 0 0 0 0 0 0 2
ATM, C11orf65 2 0 0 0 0 0 0 0 2
BAX 2 0 0 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 2
CTCF 0 2 0 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 0 2
LOC105376032, PAX5 0 1 1 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
NF1 0 1 1 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 0 2
SF3B2 0 2 0 0 0 0 0 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
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
BCL10 1 0 0 0 0 0 0 0 1
BCOR 1 0 0 0 0 0 0 0 1
BRCA1 0 0 1 0 0 0 0 0 1
BTK 0 0 0 0 0 0 0 1 1
CBFB 0 0 1 0 0 0 0 0 1
CDKN2B, LOC130001608 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
CRLF2 1 0 0 0 0 0 0 0 1
CSF3R 1 1 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 0 1 0 1
ERCC4 1 0 0 0 0 0 0 0 1
ETV6, LOC126861451 1 0 0 0 0 0 0 0 1
ETV6, LOC126861452 1 0 0 0 0 0 0 0 1
FANCD2, LOC107303338 1 0 0 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
KDM5A, NUP98 1 0 0 0 0 0 0 0 1
KLK2 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
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
LOC107982234, WT1 0 1 0 0 0 0 0 0 1
LOC126805969, MIR181A1HG 1 0 0 0 0 0 0 0 1
LOC126807619, NSD1 1 0 0 0 0 0 0 0 1
MDGA1 0 0 1 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
MYD88 0 1 0 0 0 0 0 0 1
NOTCH1 1 0 0 0 0 0 0 0 1
NT5C2 0 0 0 0 0 0 0 1 1
NUP214 0 0 1 0 0 0 0 0 1
PALB2 1 0 0 0 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 0 1
PMS2 1 0 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
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
TGM6 1 0 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 0 1
ZCCHC8 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 13 1 583 270 13 0 0 0 880
Database of Curated Mutations (DoCM) 35 241 0 0 0 0 0 2 278
Fulgent Genetics, Fulgent Genetics 12 9 97 34 7 0 0 0 159
Baylor Genetics 3 3 136 1 0 0 0 0 143
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 14 45 0 0 0 59
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 7 30 13 0 0 0 0 0 50
OMIM 43 0 0 0 0 0 1 0 44
Nadeem Sheikh Lab, University of the Punjab 7 6 19 0 0 0 0 0 32
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 3 18 1 0 0 0 0 26
Ayesha Lab, University of the Punjab 0 6 11 0 6 0 0 0 23
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 10 11 0 0 0 0 0 0 21
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 12 4 0 0 0 0 20
GeneReviews 0 0 0 0 0 0 0 10 10
McDonnell Genome Institute, Washington University in St. Louis 2 0 7 0 0 0 0 0 9
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 7 0 0 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 4 0 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 0 1 5 0 0 0 0 0 6
Hematological Lab, University of Education 6 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 0 5
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 4 0 0 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 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 Diagnostics Laboratory, University of Rochester Medical Center 4 0 0 0 0 0 0 0 4
Cancer Genetics Lab, University of Education 4 0 0 0 0 0 0 0 4
Mendelics 2 1 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 1 2 0 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 1 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 1 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 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
Molecular Haematology Laboratory, NSW Health Pathology 2 0 0 0 0 0 0 0 2
Laboratorios de Investigación en Biología Molecular e Inmunología, Universidad Autónoma de Nayarit 0 0 0 0 0 2 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
Molecular Genetics Lab, CHRU Brest 0 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 0 2
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 1 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
Pediatric Leukemia/Lymphoma, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
Mayo Clinic Genomics Laboratory, Mayo Clinic 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
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 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

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