ClinVar Miner

Variants studied for bone marrow neoplasm

Included ClinVar conditions (67):
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 not provided total
241 325 475 205 30 2 3 11 1254

Gene and significance breakdown #

Total genes and gene combinations: 107
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CEBPA 17 5 283 106 11 0 0 0 420
MPL 37 10 43 91 14 0 1 0 180
TP53 2 97 0 0 0 0 0 0 98
NF1 21 3 26 0 0 0 0 0 50
THPO 6 1 25 6 5 0 0 0 42
FLT3 12 26 0 0 0 0 0 1 38
PTPN11 28 4 3 1 0 0 0 0 36
ABL1 3 26 0 0 0 0 0 1 29
NBN 2 3 21 0 0 0 0 0 26
KIT 3 4 11 0 0 0 0 1 18
SF3B1 0 18 0 0 0 0 0 0 18
NRAS 3 15 0 0 0 0 0 0 15
RUNX1 1 7 7 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 0 13
INSL6, JAK2 7 4 3 0 0 0 0 2 13
DNMT3A 7 4 0 0 0 0 0 0 11
GATA1 11 0 0 0 0 0 0 0 11
KRAS 7 6 1 0 0 0 0 0 11
FBXW7 0 10 0 0 0 0 0 0 10
GATA2 0 2 8 0 0 0 0 0 10
NPM1 6 4 0 0 0 0 0 0 10
NSD1 4 1 4 0 0 0 0 0 9
TERT 1 1 7 0 0 0 0 0 9
BRAF 0 8 0 0 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 0 8
IDH1 6 0 1 0 0 0 0 0 7
JAK3 0 7 0 0 0 0 0 0 7
PAX5 1 0 3 1 0 0 1 0 6
DDX41 3 2 0 0 0 0 0 0 5
ETV6 5 0 0 0 0 0 0 0 5
CBL 3 2 1 0 0 0 0 0 4
JAK1 0 4 0 0 0 0 0 0 4
MIR181A1HG 4 0 0 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
BRCA2 0 0 3 0 0 0 0 0 3
PLCG2 0 3 0 0 0 0 0 0 3
SH2B3 2 0 1 0 0 0 0 0 3
XPO1 0 3 0 0 0 0 0 0 3
ASXL1 1 0 1 0 0 0 0 0 2
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
BCR 0 0 0 0 0 0 0 2 2
CALR 2 0 0 0 0 0 0 0 2
CBFA2T3 2 0 0 0 0 0 0 0 2
CSF3R 1 2 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
FGFR3 0 2 0 0 0 0 0 0 2
GNB1 2 0 0 0 0 0 0 0 2
IKZF1 0 0 0 0 0 2 0 0 2
LOC110806263, TERT 0 0 2 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
TMEM127 0 0 2 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
ACTB 1 0 0 0 0 0 0 0 1
ALK 0 0 1 0 0 0 0 0 1
APC 0 0 1 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
BCL10 1 0 0 0 0 0 0 0 1
BCR, LOC107963955 0 0 0 0 0 0 0 1 1
BTK 0 0 0 0 0 0 0 1 1
CBFB 0 0 1 0 0 0 0 0 1
CDH1 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
CSF1R 0 1 0 0 0 0 0 0 1
CUX2, SH2B3 1 0 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
ETV6, FLT3 0 1 0 0 0 0 0 0 1
FLT3, MYO18A 0 1 0 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 1
KDM5A, NUP98 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
LOC100507346, PTCH1 0 0 1 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
LPP 0 0 1 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 0 1
MFSD11, SRSF2 0 1 0 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
PCF11 0 0 1 0 0 0 0 0 1
PDGFRB 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
SETBP1 0 0 0 0 0 0 0 1 1
SLC9A2 0 0 1 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 0 1
SRC 1 1 0 0 0 0 0 0 1
STK11 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

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 36 13 303 167 22 0 0 0 541
Database of Curated Mutations (DoCM) 35 277 0 0 0 0 0 6 315
Fulgent Genetics,Fulgent Genetics 39 2 79 1 0 0 0 0 121
Illumina Clinical Services Laboratory,Illumina 0 0 41 37 6 0 0 0 84
OMIM 67 0 0 0 0 0 3 0 70
Baylor Genetics 8 4 13 0 0 0 0 0 25
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 14 11 0 0 0 0 0 0 25
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 15 1 0 0 0 0 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 15 1 0 0 0 0 0 0 16
GeneReviews 8 0 0 0 3 0 0 0 11
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 Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 6 0 0 0 0 0 9
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 0 0 5
Bone Marrow Failure laboratory,Queen Mary University London 2 3 0 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 1 4 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 3 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 1 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
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 1 1 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 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
Laboratorios de Investigación en Biología Molecular e Inmunología, Universidad Autónoma de Nayarit 0 0 0 0 0 2 0 0 2
Godley laboratory, The University of Chicago 2 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 2
Mendelics 0 0 0 1 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
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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 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
Clinical Genomics Program, Stanford Medicine 0 1 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 1
Malcovati Lab, University of Pavia 0 0 1 0 0 0 0 0 1

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