ClinVar Miner

Variants studied for acute myeloid leukemia

Included ClinVar conditions (22):
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 risk factor not provided total
75 176 164 32 10 1 2 456

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CEBPA 14 1 102 32 10 0 0 159
TP53 2 62 0 0 0 0 0 63
FLT3 11 26 0 0 0 0 1 37
KIT 3 2 11 0 0 0 0 16
NRAS 0 15 0 0 0 0 0 15
HRAS, LRRC56 0 13 0 0 0 0 0 13
SF3B1 0 13 0 0 0 0 0 13
NPM1 5 4 0 0 0 0 0 9
DNMT3A 6 2 0 0 0 0 0 8
GATA2 0 2 6 0 0 0 0 8
IDH2 6 2 0 0 0 0 0 8
KRAS 2 5 1 0 0 0 0 8
NSD1 3 1 4 0 0 0 0 8
JAK3 0 7 0 0 0 0 0 7
RUNX1 0 5 2 0 0 0 0 7
TERT 0 1 6 0 0 0 0 7
IDH1 6 0 0 0 0 0 0 6
MIR181A1HG 4 0 0 0 0 0 0 4
U2AF1 0 4 0 0 0 0 0 4
BRCA2 0 0 3 0 0 0 0 3
INSL6, JAK2 2 1 0 0 0 0 1 3
PTPN11 0 3 0 0 0 0 0 3
DDX41 2 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 2
ETV6 2 0 0 0 0 0 0 2
LOC110806263, TERT 0 0 2 0 0 0 0 2
MSH2 0 0 2 0 0 0 0 2
NF1 0 0 2 0 0 0 0 2
TMEM127 0 0 2 0 0 0 0 2
WT1 0 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
ACPP 0 0 1 0 0 0 0 1
ALK 0 0 1 0 0 0 0 1
APC 0 0 1 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 1
CDH1 0 0 1 0 0 0 0 1
CORO7, CORO7-PAM16 0 0 1 0 0 0 0 1
CSF3R 0 1 0 0 0 0 0 1
DNAJC21 1 0 0 0 0 0 0 1
ERBB3 0 1 0 0 0 1 0 1
GATA1 1 0 0 0 0 0 0 1
JAK1 0 1 0 0 0 0 0 1
KMT2A, SEPTIN9 1 0 0 0 0 0 0 1
LOC100507346, PTCH1 0 0 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 1
MDGA1 0 0 1 0 0 0 0 1
MT-ND6 0 0 1 0 0 0 0 1
PAX5 0 0 1 0 0 0 0 1
PCF11 0 0 1 0 0 0 0 1
PTEN 1 0 0 0 0 0 0 1
RASAL3 0 0 1 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 1
SHOC2 0 0 1 0 0 0 0 1
SLC9A2 0 0 1 0 0 0 0 1
SOS1 0 0 1 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 1
STK11 0 0 1 0 0 0 0 1
TEK 0 1 0 0 0 0 0 1
TGM6 1 0 0 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 1
TSC2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Database of Curated Mutations (DoCM) 30 169 0 0 0 0 0 199
Invitae 0 1 101 32 7 0 0 141
Fulgent Genetics 4 0 34 0 0 0 0 38
OMIM 27 0 0 0 0 1 0 28
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 21 0 0 0 0 22
GeneReviews 6 0 0 0 3 0 0 9
McDonnell Genome Institute,Washington University in St. Louis 2 0 7 0 0 0 0 9
Fujian Institute of Hematology,Fujian Medical University 6 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 3 0 0 0 0 0 4
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 1 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 1
Pediatric Leukemia/Lymphoma,Memorial Sloan Kettering Cancer Center 1 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 1
Molecular Haematology Laboratory,NSW Health Pathology 1 0 0 0 0 0 0 1

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