CEBPA (CCAAT enhancer binding protein alpha) - Rat Genome Database

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Gene: CEBPA (CCAAT enhancer binding protein alpha) Homo sapiens
Analyze
Symbol: CEBPA
Name: CCAAT enhancer binding protein alpha
RGD ID: 69121
HGNC Page HGNC:1833
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase I transcription regulatory region sequence-specific DNA binding activity; and STAT family protein binding activity. Involved in several processes, including interleukin-6-mediated signaling pathway; positive regulation of DNA-templated transcription initiation; and transcription by RNA polymerase I. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Implicated in acute myeloid leukemia. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: c/EBP alpha; C/EBP-alpha; CCAAT/enhancer binding protein (C/EBP), alpha; CCAAT/enhancer binding protein alpha; ccaat/enhancer binding protein, alpha; CCAAT/enhancer-binding protein alpha; CEBP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381933,299,934 - 33,302,534 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1933,299,934 - 33,302,534 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,790,840 - 33,793,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,482,776 - 38,485,160 (-)NCBINCBI36Build 36hg18NCBI36
Build 341938,482,775 - 38,485,160NCBI
Celera1930,484,405 - 30,486,995 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1930,291,676 - 30,294,205 (-)NCBIHuRef
CHM1_11933,791,795 - 33,794,385 (-)NCBICHM1_1
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinic acid  (EXP)
(+)-pilocarpine  (ISO)
(-)-cotinine  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
9,10-epoxy-12-octadecenoic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
alcohol  (EXP)
aldehydo-D-glucosamine 6-phosphate  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
andrographolide  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimonite  (EXP)
antimycin A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
avobenzone  (EXP)
baicalein  (ISO)
benzamides  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzofurans  (ISO)
Benzyl parahydroxybenzoate  (ISO)
berberine  (EXP,ISO)
beta-carotene  (ISO)
beta-D-glucosamine 6-sulfate  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bismuth atom  (EXP)
bismuthane  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
boric acid  (ISO)
bortezomib  (EXP)
Butylbenzyl phthalate  (ISO)
Butylparaben  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (ISO)
calcium dichloride  (EXP)
cannabidiolic acid  (ISO)
capsaicin  (ISO)
carbaryl  (EXP)
carbon nanotube  (ISO)
celastrol  (ISO)
celecoxib  (ISO)
cerulenin  (ISO)
ceruletide  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cholesterol  (EXP)
choline  (EXP,ISO)
chrysin  (ISO)
cisplatin  (EXP)
clofazimine  (ISO)
Clofop  (EXP)
clozapine  (ISO)
cobalt dichloride  (ISO)
colforsin daropate hydrochloride  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cucurbitacin B  (ISO)
cucurbitacin I  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
DDE  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dibutylstannane  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
doxorubicin  (EXP)
duvoglustat  (ISO)
efavirenz  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
endrin  (ISO)
enzalutamide  (EXP)
epoxiconazole  (ISO)
epoxomicin  (EXP)
ethanol  (EXP,ISO)
ethylparaben  (ISO)
etoposide  (EXP)
fenthion  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
Geraniin  (ISO)
Gingerenone A  (ISO)
gingerol  (ISO)
glucose  (EXP)
glycerol 2-phosphate  (EXP,ISO)
glycyrrhizinic acid  (ISO)
GW 501516  (EXP)
hemin  (ISO)
herbimycin  (ISO)
hesperetin  (EXP)
hexadecanoic acid  (ISO)
hispidulin  (ISO)
hydrazines  (ISO)
hydrogen peroxide  (EXP)
hydroxytyrosol  (ISO)
indirubin  (ISO)
indometacin  (EXP,ISO)
insulin  (EXP)
isoliquiritigenin  (ISO)
isoniazide  (ISO)
ivermectin  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (EXP,ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (ISO)
loliolide  (ISO)
LY294002  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylparaben  (ISO)
mifepristone  (EXP,ISO)
MK-2206  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-Nitrosopyrrolidine  (EXP)
nevirapine  (EXP)
nicotine  (ISO)
nicotinic acid  (EXP)
nimesulide  (ISO)
norwogonin  (ISO)
ochratoxin A  (EXP)
orlistat  (EXP)
osthole  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
Phenylamil  (ISO)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phoxim  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
platycodin D  (EXP,ISO)
pomalidomide  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
propylparaben  (ISO)
prostaglandin E2  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP,ISO)
reactive oxygen species  (EXP)
resveratrol  (ISO)
rifampicin  (ISO)
rimonabant  (ISO)
risperidone  (ISO)
ritonavir  (ISO)
rosmarinic acid  (EXP)
rotenone  (ISO)
rottlerin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP)
selenium atom  (ISO)
sildenafil citrate  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sincalide  (ISO)
sirolimus  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium dichromate  (ISO)
stavudine  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
Tanshinone I  (ISO)
taurine  (EXP)
terbufos  (ISO)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
tolclofos-methyl  (ISO)
tolylfluanid  (ISO)
topiramate  (ISO)
tributylstannane  (EXP,ISO)
trichloroethene  (ISO)
triclosan  (ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
valsartan  (EXP)
vinclozolin  (ISO)
vitamin D  (EXP)
vitamin E  (ISO)
wogonin  (ISO)
zearalenone  (EXP)
zidovudine  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (ISO)
animal organ regeneration  (ISO)
brown fat cell differentiation  (IEA,ISO)
cell differentiation  (ISO)
cell population proliferation  (IEA,ISO)
cellular response to lithium ion  (IEA,ISO)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
cellular response to xenobiotic stimulus  (ISO)
cholesterol metabolic process  (IEA,ISO)
cytokine-mediated signaling pathway  (NAS)
DNA-templated transcription  (IEA)
embryonic placenta development  (IEA,ISO)
energy homeostasis  (ISS)
epithelial cell maturation  (IEA,ISO)
fat cell differentiation  (IEA,ISO,ISS)
generation of precursor metabolites and energy  (TAS)
glucose homeostasis  (IEA,ISS)
granulocyte differentiation  (IEA,ISS)
hematopoietic stem cell proliferation  (IEA,ISO)
inner ear development  (IEA,ISO)
integrated stress response signaling  (NAS)
interleukin-6-mediated signaling pathway  (IDA)
lipid homeostasis  (IEA,ISS)
liver development  (IEA,ISO,ISS)
lung development  (IEA,ISO,ISS)
macrophage differentiation  (IEA,ISO)
memory  (ISO)
mitochondrion organization  (IEA,ISO)
myeloid cell differentiation  (IBA,IEA,NAS)
negative regulation of cell cycle  (IEA)
negative regulation of cell population proliferation  (IDA,IEA,ISS)
negative regulation of DNA-templated transcription  (IEA,ISO,ISS)
negative regulation of hematopoietic stem cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
Notch signaling pathway  (IEA,ISO)
osteoblast development  (ISO)
positive regulation of DNA-templated transcription  (IEA,ISO)
positive regulation of DNA-templated transcription initiation  (IDA)
positive regulation of fat cell differentiation  (IEA,ISO)
positive regulation of gene expression  (IEA)
positive regulation of inflammatory response  (IEA,ISS)
positive regulation of macrophage activation  (IEA,ISS)
positive regulation of osteoblast differentiation  (IEA,ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (TAS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,IMP)
regulation of cell cycle  (TAS)
regulation of cell population proliferation  (IEA,ISO)
regulation of DNA-templated transcription  (IDA,IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO,NAS)
response to dexamethasone  (ISO)
response to nutrient  (ISO)
response to phenylpropanoid  (ISO)
response to vitamin B2  (ISO)
transcription by RNA polymerase I  (IDA)
urea cycle  (IEA,ISO)
white fat cell differentiation  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Incipient Alzheimer's disease: microarray correlation analyses reveal major transcriptional and tumor suppressor responses. Blalock EM, etal., Proc Natl Acad Sci U S A. 2004 Feb 17;101(7):2173-8. Epub 2004 Feb 9.
2. C/EBPalpha regulates osteoclast lineage commitment. Chen W, etal., Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7294-9. doi: 10.1073/pnas.1211383110. Epub 2013 Apr 11.
3. The dysfunction of hepatic transcriptional factors in mice with Huntington's Disease. Chiang MC, etal., Biochim Biophys Acta. 2011 Sep;1812(9):1111-20. Epub 2011 May 30.
4. Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Chiang MC, etal., Hum Mol Genet. 2007 Mar 1;16(5):483-98. Epub 2007 Jan 9.
5. C/EBP alpha and C/EBP beta regulate haptoglobin gene expression during rat liver development and the acute-phase response. Dinic S, etal., Mol Biol Rep. 2005 Sep;32(3):141-7.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Regulation of microglial proliferation during chronic neurodegeneration. Gomez-Nicola D, etal., J Neurosci. 2013 Feb 6;33(6):2481-93. doi: 10.1523/JNEUROSCI.4440-12.2013.
8. Keratinocyte growth factor and the transcription factors C/EBP alpha, C/EBP delta, and SREBP-1c regulate fatty acid synthesis in alveolar type II cells. Mason RJ, etal., J Clin Invest 2003 Jul;112(2):244-55.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. The CCAAT/enhancer binding protein (C/EBP) delta is differently regulated by fibrillar and oligomeric forms of the Alzheimer amyloid-beta peptide. Ramberg V, etal., J Neuroinflammation. 2011 Apr 14;8:34. doi: 10.1186/1742-2094-8-34.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Age-dependent response of CCAAT/enhancer binding proteins following traumatic brain injury in mice. Sandhir R and Berman NE, Neurochem Int. 2010 Jan;56(1):188-93. doi: 10.1016/j.neuint.2009.10.002. Epub 2009 Oct 13.
18. Lamin A/C deficiency is associated with fat infiltration of muscle and bone. Tong J, etal., Mech Ageing Dev. 2011 Nov-Dec;132(11-12):552-9. doi: 10.1016/j.mad.2011.09.004. Epub 2011 Oct 1.
19. CCAAT-enhancer binding protein alpha is expressed in activated microglial cells after brain injury. Walton M, etal., Brain Res Mol Brain Res. 1998 Oct 30;61(1-2):11-22.
20. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1427819   PMID:1535333   PMID:1563207   PMID:1638120   PMID:1840554   PMID:7575576   PMID:7652557   PMID:7838705   PMID:7959007   PMID:8288579   PMID:8367486   PMID:8415748  
PMID:8499951   PMID:8643605   PMID:8657121   PMID:8758458   PMID:8798745   PMID:9139739   PMID:9191024   PMID:9372966   PMID:9545285   PMID:9614188   PMID:9817600   PMID:9915821  
PMID:10022857   PMID:10078198   PMID:10082561   PMID:10470496   PMID:10567568   PMID:10725330   PMID:10921906   PMID:11242107   PMID:11283671   PMID:11302752   PMID:11340085   PMID:11684017  
PMID:11809705   PMID:11818365   PMID:11830484   PMID:11867521   PMID:11893744   PMID:11912209   PMID:11978795   PMID:11997389   PMID:12011976   PMID:12036869   PMID:12069855   PMID:12080077  
PMID:12091339   PMID:12145325   PMID:12242300   PMID:12351377   PMID:12393450   PMID:12410800   PMID:12441050   PMID:12477932   PMID:12493739   PMID:12511558   PMID:12522000   PMID:12522006  
PMID:12524424   PMID:12554785   PMID:12571239   PMID:12592334   PMID:12594283   PMID:12661007   PMID:12692227   PMID:12692518   PMID:12695546   PMID:12730330   PMID:12757710   PMID:12825852  
PMID:12855590   PMID:12857754   PMID:12861022   PMID:12869508   PMID:12873812   PMID:12915572   PMID:12925529   PMID:12970736   PMID:14517214   PMID:14627805   PMID:14656889   PMID:14660596  
PMID:14685163   PMID:14701740   PMID:14726504   PMID:14734562   PMID:14737106   PMID:14766209   PMID:15078966   PMID:15107404   PMID:15150264   PMID:15326310   PMID:15340105   PMID:15479564  
PMID:15572670   PMID:15575056   PMID:15588942   PMID:15604894   PMID:15664994   PMID:15674366   PMID:15684384   PMID:15713621   PMID:15746035   PMID:15751966   PMID:15777798   PMID:15855281  
PMID:15867211   PMID:15919796   PMID:15928042   PMID:16046528   PMID:16076867   PMID:16226872   PMID:16325577   PMID:16357103   PMID:16452305   PMID:16455947   PMID:16490787   PMID:16537832  
PMID:16582099   PMID:16644732   PMID:16788101   PMID:16858416   PMID:16870193   PMID:16873674   PMID:16880509   PMID:16893891   PMID:16946298   PMID:16983342   PMID:17063141   PMID:17082780  
PMID:17098861   PMID:17188819   PMID:17190859   PMID:17203171   PMID:17347301   PMID:17372916   PMID:17431401   PMID:17475913   PMID:17504763   PMID:17554374   PMID:17637739   PMID:17671232  
PMID:17671233   PMID:17671234   PMID:17851556   PMID:17855628   PMID:17894555   PMID:17989362   PMID:18024476   PMID:18182175   PMID:18239623   PMID:18263877   PMID:18302931   PMID:18308386  
PMID:18313667   PMID:18414493   PMID:18450602   PMID:18451139   PMID:18481268   PMID:18524846   PMID:18559874   PMID:18587575   PMID:18616509   PMID:18660489   PMID:18663475   PMID:18729193  
PMID:18757096   PMID:18765514   PMID:18768433   PMID:18776924   PMID:18786141   PMID:18809607   PMID:18817785   PMID:18931025   PMID:18946494   PMID:18949049   PMID:19020539   PMID:19035457  
PMID:19054766   PMID:19059241   PMID:19059939   PMID:19089912   PMID:19121862   PMID:19126543   PMID:19171880   PMID:19221039   PMID:19228936   PMID:19277035   PMID:19289855   PMID:19304957  
PMID:19322201   PMID:19347879   PMID:19351817   PMID:19371798   PMID:19453261   PMID:19523687   PMID:19536888   PMID:19561324   PMID:19583951   PMID:19584269   PMID:19623175   PMID:19631360  
PMID:19644139   PMID:19651529   PMID:19659458   PMID:19662097   PMID:19672300   PMID:19706798   PMID:19731081   PMID:19797526   PMID:19811452   PMID:19901962   PMID:19953636   PMID:19965647  
PMID:20018373   PMID:20032083   PMID:20038735   PMID:20075868   PMID:20101026   PMID:20102225   PMID:20137111   PMID:20157332   PMID:20306678   PMID:20336759   PMID:20347819   PMID:20368469  
PMID:20368538   PMID:20371743   PMID:20378774   PMID:20385772   PMID:20398657   PMID:20421268   PMID:20422469   PMID:20439648   PMID:20456351   PMID:20460359   PMID:20492756   PMID:20495894  
PMID:20510075   PMID:20513120   PMID:20534483   PMID:20536385   PMID:20622021   PMID:20624854   PMID:20625112   PMID:20628397   PMID:20659895   PMID:20671051   PMID:20723288   PMID:20726009  
PMID:20817090   PMID:20884804   PMID:20888888   PMID:20889924   PMID:20927134   PMID:20963938   PMID:20970189   PMID:20972335   PMID:21038412   PMID:21109558   PMID:21134981   PMID:21153370  
PMID:21177436   PMID:21326902   PMID:21345218   PMID:21346772   PMID:21362229   PMID:21389317   PMID:21399661   PMID:21402921   PMID:21403128   PMID:21410980   PMID:21503969   PMID:21538063  
PMID:21619898   PMID:21674360   PMID:21734268   PMID:21737519   PMID:21821915   PMID:21869759   PMID:21873635   PMID:21880716   PMID:21988832   PMID:22013073   PMID:22170698   PMID:22212957  
PMID:22260161   PMID:22269963   PMID:22349414   PMID:22355045   PMID:22362118   PMID:22389883   PMID:22391813   PMID:22398723   PMID:22442349   PMID:22456356   PMID:22474248   PMID:22649106  
PMID:22689263   PMID:22731647   PMID:22851180   PMID:22869521   PMID:22981865   PMID:22990006   PMID:23100311   PMID:23233059   PMID:23239344   PMID:23252456   PMID:23340802   PMID:23383108  
PMID:23383300   PMID:23437297   PMID:23473759   PMID:23521373   PMID:23541085   PMID:23590662   PMID:23598402   PMID:23661758   PMID:23666693   PMID:23673926   PMID:23716546   PMID:23769673  
PMID:23814099   PMID:23816696   PMID:23833041   PMID:23898169   PMID:23932747   PMID:23974200   PMID:24033149   PMID:24038216   PMID:24054719   PMID:24056881   PMID:24076158   PMID:24107992  
PMID:24164801   PMID:24183681   PMID:24244375   PMID:24284203   PMID:24329600   PMID:24359396   PMID:24379003   PMID:24429361   PMID:24481728   PMID:24516045   PMID:24551078   PMID:24569775  
PMID:24580717   PMID:24584857   PMID:24648007   PMID:24658403   PMID:24703161   PMID:24801015   PMID:24868087   PMID:24877091   PMID:24913332   PMID:24947179   PMID:25014773   PMID:25078430  
PMID:25079101   PMID:25193961   PMID:25214041   PMID:25227715   PMID:25252716   PMID:25258381   PMID:25363290   PMID:25400766   PMID:25468431   PMID:25512613   PMID:25534203   PMID:25611491  
PMID:25701464   PMID:25726912   PMID:25753223   PMID:25824695   PMID:25895816   PMID:25920395   PMID:25932436   PMID:25982911   PMID:25987038   PMID:26025484   PMID:26053097   PMID:26162409  
PMID:26264132   PMID:26324181   PMID:26397153   PMID:26408402   PMID:26447433   PMID:26450928   PMID:26460249   PMID:26500142   PMID:26537612   PMID:26679606   PMID:26704017   PMID:26721895  
PMID:26722507   PMID:26762974   PMID:26823765   PMID:26847745   PMID:26862581   PMID:26966090   PMID:26996668   PMID:27005833   PMID:27034432   PMID:27040395   PMID:27050434   PMID:27131901  
PMID:27143256   PMID:27297623   PMID:27375010   PMID:27389056   PMID:27436336   PMID:27447460   PMID:27555288   PMID:27591677   PMID:27600951   PMID:27602952   PMID:27644413   PMID:27688151  
PMID:27779233   PMID:28031487   PMID:28179278   PMID:28186500   PMID:28250006   PMID:28341486   PMID:28514442   PMID:28566324   PMID:28640877   PMID:28652211   PMID:28663557   PMID:28665611  
PMID:28720765   PMID:28746919   PMID:28784648   PMID:28895127   PMID:28900037   PMID:28954935   PMID:29025912   PMID:29159818   PMID:29180507   PMID:29431622   PMID:29464001   PMID:29478914  
PMID:29566023   PMID:29773598   PMID:29806051   PMID:29844126   PMID:29947237   PMID:29980791   PMID:30033148   PMID:30061199   PMID:30109252   PMID:30201598   PMID:30254053   PMID:30387140  
PMID:30430607   PMID:30550771   PMID:30552141   PMID:30643190   PMID:30692133   PMID:30738458   PMID:30804502   PMID:30852139   PMID:30984536   PMID:31015230   PMID:31041512   PMID:31092334  
PMID:31309149   PMID:31373033   PMID:31387550   PMID:31512996   PMID:31533028   PMID:31547433   PMID:31646559   PMID:31666608   PMID:31692040   PMID:31784538   PMID:31829168   PMID:31867767  
PMID:32034145   PMID:32135624   PMID:32330454   PMID:32393512   PMID:32430494   PMID:32447933   PMID:32495317   PMID:32593213   PMID:32622945   PMID:32623605   PMID:32703401   PMID:32989298  
PMID:33122826   PMID:33150481   PMID:33170359   PMID:33226740   PMID:33445848   PMID:33471067   PMID:33550446   PMID:33661592   PMID:33770473   PMID:33831168   PMID:33914855   PMID:33951732  
PMID:33961781   PMID:34002296   PMID:34087345   PMID:34216417   PMID:34226527   PMID:34288448   PMID:34298689   PMID:34320176   PMID:34448807   PMID:34482361   PMID:34551306   PMID:34723452  
PMID:34790046   PMID:34816468   PMID:35003895   PMID:35032366   PMID:35274287   PMID:35314954   PMID:35900493   PMID:36108635   PMID:36244648   PMID:36333583   PMID:36709108   PMID:36734072  
PMID:36879149   PMID:37012202   PMID:37334560   PMID:37365888   PMID:37402881   PMID:37690321   PMID:37903757   PMID:38146648   PMID:38183444   PMID:38266805   PMID:38359363   PMID:38442594  
PMID:38475919  


Genomics

Comparative Map Data
CEBPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381933,299,934 - 33,302,534 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1933,299,934 - 33,302,534 (-)EnsemblGRCh38hg38GRCh38
GRCh371933,790,840 - 33,793,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361938,482,776 - 38,485,160 (-)NCBINCBI36Build 36hg18NCBI36
Build 341938,482,775 - 38,485,160NCBI
Celera1930,484,405 - 30,486,995 (-)NCBICelera
Cytogenetic Map19q13.11NCBI
HuRef1930,291,676 - 30,294,205 (-)NCBIHuRef
CHM1_11933,791,795 - 33,794,385 (-)NCBICHM1_1
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBIT2T-CHM13v2.0
Cebpa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39734,818,718 - 34,821,353 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl734,818,718 - 34,821,353 (+)EnsemblGRCm39 Ensembl
GRCm38735,119,293 - 35,121,928 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl735,119,293 - 35,121,928 (+)EnsemblGRCm38mm10GRCm38
MGSCv37735,904,312 - 35,906,947 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36734,828,063 - 34,830,688 (+)NCBIMGSCv36mm8
Celera730,255,122 - 30,257,756 (+)NCBICelera
Cytogenetic Map7B2NCBI
cM Map721.02NCBI
Cebpa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8196,896,584 - 96,899,256 (+)NCBIGRCr8
mRatBN7.2187,759,631 - 87,762,303 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl187,759,433 - 87,762,412 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx193,165,821 - 93,168,493 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01101,631,805 - 101,634,477 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0194,924,121 - 94,926,793 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0191,363,492 - 91,366,164 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl191,363,492 - 91,366,164 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0192,493,857 - 92,495,245 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4187,626,111 - 87,627,499 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1187,704,351 - 87,705,428 (+)NCBI
Celera182,110,797 - 82,113,472 (+)NCBICelera
Cytogenetic Map1q21NCBI
Cebpa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554683,047,931 - 3,049,080 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554683,046,544 - 3,049,217 (-)NCBIChiLan1.0ChiLan1.0
CEBPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22039,273,129 - 39,275,654 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11941,273,099 - 41,275,733 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01930,223,567 - 30,226,204 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11938,969,065 - 38,971,031 (-)NCBIpanpan1.1PanPan1.1panPan2
CEBPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11118,846,252 - 118,851,045 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1118,249,214 - 118,251,848 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01119,446,691 - 119,449,313 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11119,007,283 - 119,009,910 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01118,633,880 - 118,636,501 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01119,692,609 - 119,695,231 (+)NCBIUU_Cfam_GSD_1.0
Cebpa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093499,129,664 - 9,132,348 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365702,513,561 - 2,516,213 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEBPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl643,083,207 - 43,085,836 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1643,083,200 - 43,085,884 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2638,632,195 - 38,634,910 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CEBPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1628,342,506 - 28,345,759 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl628,343,907 - 28,344,977 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660736,065,215 - 6,067,832 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cebpa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247949,809,007 - 9,813,418 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEBPA
865 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del) microsatellite Acute myeloid leukemia [RCV000543650]|not provided [RCV003105943]|not specified [RCV001821500] Chr19:33302102..33302107 [GRCh38]
Chr19:33793008..33793013 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.141C>T (p.Ala47=) single nucleotide variant Acute myeloid leukemia [RCV001494587] Chr19:33302274 [GRCh38]
Chr19:33793180 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.547C>A (p.Pro183Thr) single nucleotide variant Acute myeloid leukemia [RCV000549159] Chr19:33301868 [GRCh38]
Chr19:33792774 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.762G>A (p.Lys254=) single nucleotide variant Acute myeloid leukemia [RCV000544266] Chr19:33301653 [GRCh38]
Chr19:33792559 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg) single nucleotide variant Acute myeloid leukemia [RCV000550884]|not provided [RCV002291656]|not specified [RCV001821502] Chr19:33302374 [GRCh38]
Chr19:33793280 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del) microsatellite Acute myeloid leukemia [RCV000552770] Chr19:33301849..33301854 [GRCh38]
Chr19:33792755..33792760 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) deletion Acute myeloid leukemia [RCV000019126] Chr19:33302294..33302300 [GRCh38]
Chr19:33793200..33793206 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) duplication Acute myeloid leukemia [RCV000019129] Chr19:33301423..33301424 [GRCh38]
Chr19:33792329..33792330 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) duplication Acute myeloid leukemia [RCV000019130] Chr19:33301463..33301464 [GRCh38]
Chr19:33792369..33792370 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) duplication Acute myeloid leukemia [RCV000019131] Chr19:33302200..33302201 [GRCh38]
Chr19:33793106..33793107 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.68del (p.Pro23fs) deletion Acute myeloid leukemia [RCV000019132] Chr19:33302347 [GRCh38]
Chr19:33793253 [GRCh37]
Chr19:19q13.11		 pathogenic|conflicting data from submitters|other
NM_004364.5(CEBPA):c.684G>A (p.Pro228=) single nucleotide variant Acute myeloid leukemia [RCV001399690] Chr19:33301731 [GRCh38]
Chr19:33792637 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg) single nucleotide variant Acute myeloid leukemia [RCV000547877]|not provided [RCV001731750] Chr19:33301588 [GRCh38]
Chr19:33792494 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser) single nucleotide variant Acute myeloid leukemia [RCV000551488] Chr19:33302321 [GRCh38]
Chr19:33793227 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.558G>A (p.Pro186=) single nucleotide variant Acute myeloid leukemia [RCV000542440]|Hereditary cancer-predisposing syndrome [RCV002256343] Chr19:33301857 [GRCh38]
Chr19:33792763 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.882C>T (p.Ile294=) single nucleotide variant Acute myeloid leukemia [RCV000558086] Chr19:33301533 [GRCh38]
Chr19:33792439 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.501G>A (p.Glu167=) single nucleotide variant Acute myeloid leukemia [RCV000549968] Chr19:33301914 [GRCh38]
Chr19:33792820 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) single nucleotide variant Acute myeloid leukemia [RCV000554862]|Hereditary cancer-predisposing syndrome [RCV002257787]|not provided [RCV003329293] Chr19:33302111 [GRCh38]
Chr19:33793017 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr) single nucleotide variant Acute myeloid leukemia [RCV000555779] Chr19:33302204 [GRCh38]
Chr19:33793110 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys) single nucleotide variant Acute myeloid leukemia [RCV000556623]|not provided [RCV001579582] Chr19:33301994 [GRCh38]
Chr19:33792900 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala) single nucleotide variant Acute myeloid leukemia [RCV000547626] Chr19:33302401 [GRCh38]
Chr19:33793307 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser) single nucleotide variant Acute myeloid leukemia [RCV000557517]|not specified [RCV001821501] Chr19:33302030 [GRCh38]
Chr19:33792936 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.789C>T (p.Leu263=) single nucleotide variant Acute myeloid leukemia [RCV000559071]|CEBPA-related condition [RCV003905332]|not specified [RCV001821503] Chr19:33301626 [GRCh38]
Chr19:33792532 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.120G>T (p.Ala40=) single nucleotide variant Acute myeloid leukemia [RCV000541856] Chr19:33302295 [GRCh38]
Chr19:33793201 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) single nucleotide variant Acute myeloid leukemia [RCV000547234]|not provided [RCV003105944] Chr19:33302050 [GRCh38]
Chr19:33792956 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) single nucleotide variant Acute myeloid leukemia [RCV000019127] Chr19:33302267 [GRCh38]
Chr19:33793173 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) single nucleotide variant Acute myeloid leukemia [RCV000019128] Chr19:33302164 [GRCh38]
Chr19:33793070 [GRCh37]
Chr19:19q13.11		 pathogenic|other
NM_004364.5(CEBPA):c.141del (p.Ala48fs) deletion Acute myeloid leukemia [RCV000020582] Chr19:33302274 [GRCh38]
Chr19:33793180 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
NM_004364.5(CEBPA):c.198_201dup (p.Ile68fs) duplication Acute myeloid leukemia [RCV000020583] Chr19:33302213..33302214 [GRCh38]
Chr19:33793119..33793120 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.217_218insC (p.Phe73fs) insertion Acute myeloid leukemia [RCV000020584] Chr19:33302197..33302198 [GRCh38]
Chr19:33793103..33793104 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.318_319dup (p.Asp107fs) duplication Acute myeloid leukemia [RCV000020585] Chr19:33302095..33302096 [GRCh38]
Chr19:33793001..33793002 [GRCh37]
Chr19:19q13.11		 pathogenic
CEBPA:c.68delC (p.Pro23Argfs) deletion AML - Acute myeloid leukemia [RCV000020586] Chr19:33302347 [GRCh38]
Chr19:33793253 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.68dup (p.His24fs) duplication Acute myeloid leukemia [RCV000020587]|not provided [RCV001269976] Chr19:33302346..33302347 [GRCh38]
Chr19:33793252..33793253 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.690G>T (p.Thr230=) single nucleotide variant Acute myeloid leukemia [RCV000020588]|not provided [RCV001711076]|not specified [RCV000242634] Chr19:33301725 [GRCh38]
Chr19:33792631 [GRCh37]
Chr19:19q13.11		 benign
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu) single nucleotide variant Acute myeloid leukemia [RCV001893170] Chr19:33301702 [GRCh38]
Chr19:33792608 [GRCh37]
Chr19:19q13.11		 benign|uncertain significance
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser) single nucleotide variant Acute myeloid leukemia [RCV000020590] Chr19:33301661 [GRCh38]
Chr19:33792567 [GRCh37]
Chr19:19q13.11		 benign|uncertain significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr) single nucleotide variant Acute myeloid leukemia [RCV001231090] Chr19:33301358 [GRCh38]
Chr19:33792264 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser) single nucleotide variant Acute myeloid leukemia [RCV000533682]|not provided [RCV002472950]|not specified [RCV000120549] Chr19:33301406 [GRCh38]
Chr19:33792312 [GRCh37]
Chr19:19q13.11		 uncertain significance|not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12		 pathogenic
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11		 uncertain significance
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) microsatellite Acute myeloid leukemia [RCV000228147]|Hereditary cancer-predisposing syndrome [RCV002256102]|not provided [RCV001579326]|not specified [RCV000194925] Chr19:33301825..33301826 [GRCh38]
Chr19:33792731..33792732 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp) single nucleotide variant Acute myeloid leukemia [RCV000548585] Chr19:33301351 [GRCh38]
Chr19:33792257 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) microsatellite Acute myeloid leukemia [RCV000558465]|Hereditary cancer-predisposing syndrome [RCV002256341]|not provided [RCV003235275] Chr19:33302101..33302102 [GRCh38]
Chr19:33793007..33793008 [GRCh37]
Chr19:19q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004364.5(CEBPA):c.642C>T (p.Gly214=) single nucleotide variant Acute myeloid leukemia [RCV000556354] Chr19:33301773 [GRCh38]
Chr19:33792679 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) single nucleotide variant Acute myeloid leukemia [RCV000225808]|Autosomal dominant familial acute myeloid leukemia [RCV000509407]|not provided [RCV002247675]|not specified [RCV001818614] Chr19:33301691 [GRCh38]
Chr19:33792597 [GRCh37]
Chr19:19q13.11		 uncertain significance|not provided
NM_004364.5(CEBPA):c.576G>A (p.Pro192=) single nucleotide variant Acute myeloid leukemia [RCV000226475]|CEBPA-related condition [RCV003955344] Chr19:33301839 [GRCh38]
Chr19:33792745 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser) single nucleotide variant Acute myeloid leukemia [RCV000227901] Chr19:33301397 [GRCh38]
Chr19:33792303 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.252C>G (p.His84Gln) single nucleotide variant Acute myeloid leukemia [RCV000228351] Chr19:33302163 [GRCh38]
Chr19:33793069 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) single nucleotide variant Acute myeloid leukemia [RCV000228805]|CEBPA-related condition [RCV003937905]|Hereditary cancer-predisposing syndrome [RCV002256166]|not provided [RCV001529423]|not specified [RCV000499387] Chr19:33302013 [GRCh38]
Chr19:33792919 [GRCh37]
Chr19:19q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) single nucleotide variant Acute myeloid leukemia [RCV000230660]|Hereditary cancer-predisposing syndrome [RCV002255141]|not provided [RCV003148688] Chr19:33301394 [GRCh38]
Chr19:33792300 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys) indel Acute myeloid leukemia [RCV000231121] Chr19:33302137..33302138 [GRCh38]
Chr19:33793043..33793044 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del) microsatellite Acute myeloid leukemia [RCV000231571]|not provided [RCV003235155] Chr19:33301849..33301857 [GRCh38]
Chr19:33792755..33792763 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) single nucleotide variant Acute myeloid leukemia [RCV000232039]|CEBPA-related condition [RCV003955345]|Hereditary cancer-predisposing syndrome [RCV002257563]|not specified [RCV000500455] Chr19:33301748 [GRCh38]
Chr19:33792654 [GRCh37]
Chr19:19q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg) single nucleotide variant Acute myeloid leukemia [RCV000233905] Chr19:33302032 [GRCh38]
Chr19:33792938 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.174C>T (p.His58=) single nucleotide variant Acute myeloid leukemia [RCV000234585] Chr19:33302241 [GRCh38]
Chr19:33793147 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.696G>T (p.Val232=) single nucleotide variant Acute myeloid leukemia [RCV000559985] Chr19:33301719 [GRCh38]
Chr19:33792625 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.573C>T (p.His191=) single nucleotide variant Acute myeloid leukemia [RCV000463990]|not provided [RCV001618432]|not specified [RCV000250116] Chr19:33301842 [GRCh38]
Chr19:33792748 [GRCh37]
Chr19:19q13.11		 benign
NM_004364.5(CEBPA):c.918_919insGCGCTGCTTGGCCTTGTCGCAGAC (p.Arg306_Asn307insAlaLeuLeuGlyLeuValAlaAsp) insertion Acute myeloid leukemia [RCV002282595] Chr19:33301496..33301497 [GRCh38]
Chr19:33792402..33792403 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.146del (p.Pro49fs) deletion Acute myeloid leukemia [RCV002282596] Chr19:33302269 [GRCh38]
Chr19:33793175 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.931CAG[3] (p.Gln312_Lys313insGln) microsatellite Acute myeloid leukemia [RCV002282601] Chr19:33301478..33301479 [GRCh38]
Chr19:33792384..33792385 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.201del (p.Ala66_Tyr67insTer) deletion not provided [RCV001269753] Chr19:33302214 [GRCh38]
Chr19:33793120 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.-36C>T single nucleotide variant not provided [RCV000489885] Chr19:33302450 [GRCh38]
Chr19:33793356 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.367G>T (p.Gly123Ter) single nucleotide variant not provided [RCV001269569] Chr19:33302048 [GRCh38]
Chr19:33792954 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.856C>G (p.Arg286Gly) single nucleotide variant not provided [RCV001269592] Chr19:33301559 [GRCh38]
Chr19:33792465 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.137del (p.Pro46fs) deletion not provided [RCV001269603] Chr19:33302278 [GRCh38]
Chr19:33793184 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.33_67delinsTTCCTAACCCT (p.Arg12_Pro23delinsSerTer) indel not provided [RCV001269872] Chr19:33302348..33302382 [GRCh38]
Chr19:33793254..33793288 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) single nucleotide variant Acute myeloid leukemia [RCV000806293] Chr19:33301769 [GRCh38]
Chr19:33792675 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro) single nucleotide variant Acute myeloid leukemia [RCV000525386] Chr19:33301426 [GRCh38]
Chr19:33792332 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys) single nucleotide variant Acute myeloid leukemia [RCV000529673] Chr19:33302197 [GRCh38]
Chr19:33793103 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp) single nucleotide variant Acute myeloid leukemia [RCV000526970]|Inborn genetic diseases [RCV002527677]|not provided [RCV002291655] Chr19:33302308 [GRCh38]
Chr19:33793214 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup) microsatellite Acute myeloid leukemia [RCV000527557] Chr19:33301848..33301849 [GRCh38]
Chr19:33792754..33792755 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg) single nucleotide variant Acute myeloid leukemia [RCV000528397] Chr19:33302364 [GRCh38]
Chr19:33793270 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala) single nucleotide variant Acute myeloid leukemia [RCV000535994]|Hereditary cancer-predisposing syndrome [RCV002256342] Chr19:33302375 [GRCh38]
Chr19:33793281 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.210G>A (p.Pro70=) single nucleotide variant Acute myeloid leukemia [RCV000540924]|CEBPA-related condition [RCV003915488] Chr19:33302205 [GRCh38]
Chr19:33793111 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) microsatellite Acute myeloid leukemia [RCV000466650]|Hereditary cancer-predisposing syndrome [RCV002258908] Chr19:33302101..33302102 [GRCh38]
Chr19:33793007..33793008 [GRCh37]
Chr19:19q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser) single nucleotide variant Acute myeloid leukemia [RCV000457735] Chr19:33302090 [GRCh38]
Chr19:33792996 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro) single nucleotide variant Acute myeloid leukemia [RCV001856852]|not provided [RCV000479408] Chr19:33301552 [GRCh38]
Chr19:33792458 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val) single nucleotide variant Acute myeloid leukemia [RCV000474186] Chr19:33301355 [GRCh38]
Chr19:33792261 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.60G>C (p.Gln20His) single nucleotide variant Acute myeloid leukemia [RCV000459476]|not provided [RCV003441874] Chr19:33302355 [GRCh38]
Chr19:33793261 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro) single nucleotide variant Acute myeloid leukemia [RCV000470752] Chr19:33301370 [GRCh38]
Chr19:33792276 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) single nucleotide variant Acute myeloid leukemia [RCV000470798]|not provided [RCV001548002]|not specified [RCV000504052] Chr19:33301374 [GRCh38]
Chr19:33792280 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg) single nucleotide variant Acute myeloid leukemia [RCV000474816]|not provided [RCV003148744] Chr19:33301360 [GRCh38]
Chr19:33792266 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2]) microsatellite Acute myeloid leukemia [RCV000469196]|CEBPA-related condition [RCV003418180]|Hereditary cancer-predisposing syndrome [RCV002257713]|not provided [RCV002284397]|not specified [RCV003151065] Chr19:33301826..33301831 [GRCh38]
Chr19:33792732..33792737 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) single nucleotide variant Acute myeloid leukemia [RCV000473665]|Inborn genetic diseases [RCV002525573]|not provided [RCV002275032]|not specified [RCV001821276] Chr19:33302027 [GRCh38]
Chr19:33792933 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.576G>T (p.Pro192=) single nucleotide variant Acute myeloid leukemia [RCV001399228]|Hereditary cancer-predisposing syndrome [RCV002255408]|not specified [RCV001821356] Chr19:33301839 [GRCh38]
Chr19:33792745 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) microsatellite Acute myeloid leukemia [RCV000463941]|not provided [RCV003153621] Chr19:33301848..33301849 [GRCh38]
Chr19:33792754..33792755 [GRCh37]
Chr19:19q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met) single nucleotide variant Acute myeloid leukemia [RCV000471685] Chr19:33302236 [GRCh38]
Chr19:33793142 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu) single nucleotide variant Acute myeloid leukemia [RCV000460550] Chr19:33302299 [GRCh38]
Chr19:33793205 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.612G>C (p.Pro204=) single nucleotide variant Acute myeloid leukemia [RCV000460691]|CEBPA-related condition [RCV003942547]|Hereditary cancer-predisposing syndrome [RCV002256307] Chr19:33301803 [GRCh38]
Chr19:33792709 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) deletion Acute myeloid leukemia [RCV000464349] Chr19:33302225..33302229 [GRCh38]
Chr19:33793131..33793135 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5]) microsatellite Acute myeloid leukemia [RCV000475773]|Hereditary cancer-predisposing syndrome [RCV002258909] Chr19:33301825..33301826 [GRCh38]
Chr19:33792731..33792732 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) single nucleotide variant Acute myeloid leukemia [RCV000468430]|not provided [RCV001559352]|not specified [RCV000502793] Chr19:33301722 [GRCh38]
Chr19:33792628 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser) single nucleotide variant Acute myeloid leukemia [RCV000457308] Chr19:33302237 [GRCh38]
Chr19:33793143 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) single nucleotide variant Acute myeloid leukemia [RCV000468596]|not provided [RCV001565158]|not specified [RCV000501331] Chr19:33301659 [GRCh38]
Chr19:33792565 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.132C>T (p.Ala44=) single nucleotide variant Acute myeloid leukemia [RCV000472313] Chr19:33302283 [GRCh38]
Chr19:33793189 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His) single nucleotide variant Acute myeloid leukemia [RCV000468801] Chr19:33301874 [GRCh38]
Chr19:33792780 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.396C>T (p.Gly132=) single nucleotide variant Acute myeloid leukemia [RCV000461656]|Hereditary cancer-predisposing syndrome [RCV002255409] Chr19:33302019 [GRCh38]
Chr19:33792925 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.129C>A (p.Pro43=) single nucleotide variant Acute myeloid leukemia [RCV000476924] Chr19:33302286 [GRCh38]
Chr19:33793192 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu) indel Acute myeloid leukemia [RCV000462206] Chr19:33301819..33301820 [GRCh38]
Chr19:33792725..33792726 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) single nucleotide variant Acute myeloid leukemia [RCV000458764]|Hereditary cancer-predisposing syndrome [RCV002255394] Chr19:33302352 [GRCh38]
Chr19:33793258 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.387C>G (p.Pro129=) single nucleotide variant Acute myeloid leukemia [RCV000458813] Chr19:33302028 [GRCh38]
Chr19:33792934 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.561G>C (p.Pro187=) single nucleotide variant Acute myeloid leukemia [RCV000477639]|CEBPA-related condition [RCV003972785]|Hereditary cancer-predisposing syndrome [RCV002256308]|not provided [RCV001683516]|not specified [RCV001821357] Chr19:33301854 [GRCh38]
Chr19:33792760 [GRCh37]
Chr19:19q13.11		 likely pathogenic|benign|likely benign
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) duplication Acute myeloid leukemia [RCV000503374] Chr19:33302295..33302296 [GRCh38]
Chr19:33793201..33793202 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val) single nucleotide variant Acute myeloid leukemia [RCV002524166]|not specified [RCV000503819] Chr19:33301639 [GRCh38]
Chr19:33792545 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu) single nucleotide variant Acute myeloid leukemia [RCV000703824]|not specified [RCV000501604] Chr19:33302169 [GRCh38]
Chr19:33793075 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.324C>T (p.Tyr108=) single nucleotide variant not specified [RCV000499608] Chr19:33302091 [GRCh38]
Chr19:33792997 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) deletion Acute myeloid leukemia [RCV000502416]|not provided [RCV001269596] Chr19:33302076..33302083 [GRCh38]
Chr19:33792982..33792989 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro) insertion Acute myeloid leukemia [RCV001211145]|not specified [RCV000500636] Chr19:33301838..33301839 [GRCh38]
Chr19:33792744..33792745 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.27G>T (p.Ala9=) single nucleotide variant Acute myeloid leukemia [RCV001434923]|not specified [RCV000502993] Chr19:33302388 [GRCh38]
Chr19:33793294 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.159C>T (p.Gly53=) single nucleotide variant Acute myeloid leukemia [RCV000526069] Chr19:33302256 [GRCh38]
Chr19:33793162 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser) single nucleotide variant Acute myeloid leukemia [RCV000529354] Chr19:33301667 [GRCh38]
Chr19:33792573 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile) single nucleotide variant Acute myeloid leukemia [RCV000530283] Chr19:33301761 [GRCh38]
Chr19:33792667 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.633G>T (p.Ala211=) single nucleotide variant Acute myeloid leukemia [RCV000531205] Chr19:33301782 [GRCh38]
Chr19:33792688 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.358A>G (p.Met120Val) single nucleotide variant Acute myeloid leukemia [RCV000532393] Chr19:33302057 [GRCh38]
Chr19:33792963 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.874A>C (p.Asn292His) single nucleotide variant Inborn genetic diseases [RCV000622599] Chr19:33301541 [GRCh38]
Chr19:33792447 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) single nucleotide variant Acute myeloid leukemia [RCV000631418]|Hereditary cancer-predisposing syndrome [RCV002257873]|not provided [RCV002528854] Chr19:33301706 [GRCh38]
Chr19:33792612 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser) single nucleotide variant Acute myeloid leukemia [RCV000631421] Chr19:33302384 [GRCh38]
Chr19:33793290 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met) single nucleotide variant Acute myeloid leukemia [RCV000631423] Chr19:33301533 [GRCh38]
Chr19:33792439 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser) single nucleotide variant Acute myeloid leukemia [RCV000631431]|not provided [RCV003325503] Chr19:33302033 [GRCh38]
Chr19:33792939 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.138T>A (p.Pro46=) single nucleotide variant Acute myeloid leukemia [RCV000631439] Chr19:33302277 [GRCh38]
Chr19:33793183 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.318T>C (p.Phe106=) single nucleotide variant Acute myeloid leukemia [RCV000631441] Chr19:33302097 [GRCh38]
Chr19:33793003 [GRCh37]
Chr19:19q13.11		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004364.5(CEBPA):c.27G>A (p.Ala9=) single nucleotide variant Acute myeloid leukemia [RCV000539972] Chr19:33302388 [GRCh38]
Chr19:33793294 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1]) microsatellite Acute myeloid leukemia [RCV000631433] Chr19:33301826..33301837 [GRCh38]
Chr19:33792732..33792743 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.180G>T (p.Thr60=) single nucleotide variant Acute myeloid leukemia [RCV000631443] Chr19:33302235 [GRCh38]
Chr19:33793141 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr) single nucleotide variant Acute myeloid leukemia [RCV000541507] Chr19:33301781 [GRCh38]
Chr19:33792687 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val) single nucleotide variant Acute myeloid leukemia [RCV000631417]|not provided [RCV003327433]|not specified [RCV001821786] Chr19:33301883 [GRCh38]
Chr19:33792789 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe) single nucleotide variant Acute myeloid leukemia [RCV000631426] Chr19:33301628 [GRCh38]
Chr19:33792534 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val) single nucleotide variant Acute myeloid leukemia [RCV000631438] Chr19:33301888 [GRCh38]
Chr19:33792794 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.603G>A (p.Leu201=) single nucleotide variant Acute myeloid leukemia [RCV000631444] Chr19:33301812 [GRCh38]
Chr19:33792718 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.111G>C (p.Ala37=) single nucleotide variant Acute myeloid leukemia [RCV000631445] Chr19:33302304 [GRCh38]
Chr19:33793210 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.72C>A (p.His24Gln) single nucleotide variant Acute myeloid leukemia [RCV000631434] Chr19:33302343 [GRCh38]
Chr19:33793249 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) single nucleotide variant Acute myeloid leukemia [RCV000631419]|CEBPA-related condition [RCV003403447]|Hereditary cancer-predisposing syndrome [RCV002256421]|not provided [RCV002509478]|not specified [RCV001821787] Chr19:33302051 [GRCh38]
Chr19:33792957 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro) single nucleotide variant Acute myeloid leukemia [RCV000631422] Chr19:33301870 [GRCh38]
Chr19:33792776 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys) single nucleotide variant Acute myeloid leukemia [RCV000631427] Chr19:33302387 [GRCh38]
Chr19:33793293 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp) single nucleotide variant Acute myeloid leukemia [RCV000631429] Chr19:33302159 [GRCh38]
Chr19:33793065 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp) single nucleotide variant Acute myeloid leukemia [RCV000631435] Chr19:33301983 [GRCh38]
Chr19:33792889 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala) single nucleotide variant Acute myeloid leukemia [RCV000631436] Chr19:33302378 [GRCh38]
Chr19:33793284 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met) indel Acute myeloid leukemia [RCV000537531] Chr19:33301621..33301622 [GRCh38]
Chr19:33792527..33792528 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.522G>A (p.Ala174=) single nucleotide variant Acute myeloid leukemia [RCV000538785] Chr19:33301893 [GRCh38]
Chr19:33792799 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp) single nucleotide variant Acute myeloid leukemia [RCV000533310] Chr19:33302110 [GRCh38]
Chr19:33793016 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.459G>A (p.Pro153=) single nucleotide variant Acute myeloid leukemia [RCV000535075]|Hereditary cancer-predisposing syndrome [RCV002257788] Chr19:33301956 [GRCh38]
Chr19:33792862 [GRCh37]
Chr19:19q13.11		 benign|likely benign
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser) single nucleotide variant Acute myeloid leukemia [RCV000536607] Chr19:33302327 [GRCh38]
Chr19:33793233 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33762256-34353184)x1 copy number loss See cases [RCV000512303] Chr19:33762256..34353184 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) single nucleotide variant Acute myeloid leukemia [RCV000631420]|not provided [RCV003327434]|not specified [RCV001821788] Chr19:33301700 [GRCh38]
Chr19:33792606 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu) single nucleotide variant Acute myeloid leukemia [RCV000631424] Chr19:33301846 [GRCh38]
Chr19:33792752 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val) single nucleotide variant Acute myeloid leukemia [RCV000631425] Chr19:33301612 [GRCh38]
Chr19:33792518 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser) single nucleotide variant Acute myeloid leukemia [RCV000631428]|not provided [RCV002298715] Chr19:33302315 [GRCh38]
Chr19:33793221 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg) single nucleotide variant Acute myeloid leukemia [RCV000631430] Chr19:33301460 [GRCh38]
Chr19:33792366 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser) single nucleotide variant Acute myeloid leukemia [RCV000631432]|not provided [RCV002286766] Chr19:33301682 [GRCh38]
Chr19:33792588 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro) single nucleotide variant Acute myeloid leukemia [RCV000631437]|CEBPA-related condition [RCV003918006] Chr19:33302260 [GRCh38]
Chr19:33793166 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.888G>A (p.Val296=) single nucleotide variant Acute myeloid leukemia [RCV000631440]|CEBPA-related condition [RCV003905691] Chr19:33301527 [GRCh38]
Chr19:33792433 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.153G>T (p.Pro51=) single nucleotide variant Acute myeloid leukemia [RCV000631442] Chr19:33302262 [GRCh38]
Chr19:33793168 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.942G>T (p.Val314=) single nucleotide variant Acute myeloid leukemia [RCV000631446]|not provided [RCV001766343] Chr19:33301473 [GRCh38]
Chr19:33792379 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del) microsatellite Acute myeloid leukemia [RCV000685395] Chr19:33302102..33302110 [GRCh38]
Chr19:33793008..33793016 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser) single nucleotide variant Acute myeloid leukemia [RCV000685154] Chr19:33301868 [GRCh38]
Chr19:33792774 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup) duplication Acute myeloid leukemia [RCV000685838] Chr19:33302099..33302100 [GRCh38]
Chr19:33793005..33793006 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe) single nucleotide variant Acute myeloid leukemia [RCV000701655]|CEBPA-related condition [RCV003983173] Chr19:33302002 [GRCh38]
Chr19:33792908 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro) indel Acute myeloid leukemia [RCV000702183] Chr19:33301847..33301857 [GRCh38]
Chr19:33792753..33792763 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln) single nucleotide variant Acute myeloid leukemia [RCV000688633]|not provided [RCV002282327] Chr19:33302347 [GRCh38]
Chr19:33793253 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.655C>A (p.His219Asn) single nucleotide variant Acute myeloid leukemia [RCV000698756] Chr19:33301760 [GRCh38]
Chr19:33792666 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser) single nucleotide variant Acute myeloid leukemia [RCV000686373]|not specified [RCV003151135] Chr19:33302405 [GRCh38]
Chr19:33793311 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu) single nucleotide variant Acute myeloid leukemia [RCV000690334] Chr19:33301822 [GRCh38]
Chr19:33792728 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met) single nucleotide variant Acute myeloid leukemia [RCV000704612] Chr19:33302122 [GRCh38]
Chr19:33793028 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser) single nucleotide variant Acute myeloid leukemia [RCV000704684] Chr19:33301751 [GRCh38]
Chr19:33792657 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe) single nucleotide variant Acute myeloid leukemia [RCV000690829]|not provided [RCV003128644] Chr19:33302023 [GRCh38]
Chr19:33792929 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.614A>G (p.His205Arg) single nucleotide variant Acute myeloid leukemia [RCV000705668] Chr19:33301801 [GRCh38]
Chr19:33792707 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln) single nucleotide variant Acute myeloid leukemia [RCV000699196] Chr19:33301415 [GRCh38]
Chr19:33792321 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.780C>A (p.His260Gln) single nucleotide variant Acute myeloid leukemia [RCV000694204] Chr19:33301635 [GRCh38]
Chr19:33792541 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val) single nucleotide variant Acute myeloid leukemia [RCV000706320] Chr19:33301594 [GRCh38]
Chr19:33792500 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn) single nucleotide variant Acute myeloid leukemia [RCV000686733] Chr19:33302228 [GRCh38]
Chr19:33793134 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu) single nucleotide variant Acute myeloid leukemia [RCV000686821] Chr19:33301502 [GRCh38]
Chr19:33792408 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val) single nucleotide variant Acute myeloid leukemia [RCV000702153] Chr19:33302231 [GRCh38]
Chr19:33793137 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.261G>T (p.Gln87His) single nucleotide variant Acute myeloid leukemia [RCV000690813] Chr19:33302154 [GRCh38]
Chr19:33793060 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly) single nucleotide variant Acute myeloid leukemia [RCV000695818] Chr19:33301579 [GRCh38]
Chr19:33792485 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys) single nucleotide variant Acute myeloid leukemia [RCV000695833] Chr19:33301430 [GRCh38]
Chr19:33792336 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg) single nucleotide variant Acute myeloid leukemia [RCV000688864] Chr19:33301501 [GRCh38]
Chr19:33792407 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.283G>A (p.Val95Met) single nucleotide variant Acute myeloid leukemia [RCV000694175] Chr19:33302132 [GRCh38]
Chr19:33793038 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys) single nucleotide variant Acute myeloid leukemia [RCV000696760] Chr19:33301613 [GRCh38]
Chr19:33792519 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) single nucleotide variant Acute myeloid leukemia [RCV000703643] Chr19:33301415 [GRCh38]
Chr19:33792321 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro) single nucleotide variant Acute myeloid leukemia [RCV000706324] Chr19:33301784 [GRCh38]
Chr19:33792690 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_004364.5(CEBPA):c.666C>A (p.Pro222=) single nucleotide variant Acute myeloid leukemia [RCV001478714] Chr19:33301749 [GRCh38]
Chr19:33792655 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly) single nucleotide variant Acute myeloid leukemia [RCV000761184] Chr19:33301489 [GRCh38]
Chr19:33792395 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu) single nucleotide variant Acute myeloid leukemia [RCV001043287]|Hereditary cancer-predisposing syndrome [RCV002255609] Chr19:33302372 [GRCh38]
Chr19:33793278 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.*302C>T single nucleotide variant not provided [RCV001546655] Chr19:33301036 [GRCh38]
Chr19:33791942 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu) single nucleotide variant Acute myeloid leukemia [RCV001992705] Chr19:33302190 [GRCh38]
Chr19:33793096 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys) single nucleotide variant Acute myeloid leukemia [RCV001067694]|not provided [RCV002307676] Chr19:33301919 [GRCh38]
Chr19:33792825 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.252C>T (p.His84=) single nucleotide variant Acute myeloid leukemia [RCV001448842] Chr19:33302163 [GRCh38]
Chr19:33793069 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.765G>T (p.Gly255=) single nucleotide variant Acute myeloid leukemia [RCV001429959]|Hereditary cancer-predisposing syndrome [RCV002258011] Chr19:33301650 [GRCh38]
Chr19:33792556 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.522G>T (p.Ala174=) single nucleotide variant Acute myeloid leukemia [RCV001425668] Chr19:33301893 [GRCh38]
Chr19:33792799 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.153G>C (p.Pro51=) single nucleotide variant Acute myeloid leukemia [RCV001459653] Chr19:33302262 [GRCh38]
Chr19:33793168 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.750C>A (p.Gly250=) single nucleotide variant Acute myeloid leukemia [RCV000869833] Chr19:33301665 [GRCh38]
Chr19:33792571 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.138T>C (p.Pro46=) single nucleotide variant Acute myeloid leukemia [RCV000877604] Chr19:33302277 [GRCh38]
Chr19:33793183 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.723C>G (p.Leu241=) single nucleotide variant Acute myeloid leukemia [RCV001440776]|CEBPA-related condition [RCV003970654] Chr19:33301692 [GRCh38]
Chr19:33792598 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.918C>A (p.Arg306=) single nucleotide variant Acute myeloid leukemia [RCV000876940] Chr19:33301497 [GRCh38]
Chr19:33792403 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.741G>C (p.Pro247=) single nucleotide variant Acute myeloid leukemia [RCV001475112] Chr19:33301674 [GRCh38]
Chr19:33792580 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.909C>T (p.Ala303=) single nucleotide variant Acute myeloid leukemia [RCV001498790] Chr19:33301506 [GRCh38]
Chr19:33792412 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.990G>A (p.Gln330=) single nucleotide variant Acute myeloid leukemia [RCV000946276] Chr19:33301425 [GRCh38]
Chr19:33792331 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.345C>T (p.Pro115=) single nucleotide variant Acute myeloid leukemia [RCV001440457] Chr19:33302070 [GRCh38]
Chr19:33792976 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.468G>A (p.Arg156=) single nucleotide variant Acute myeloid leukemia [RCV000865580] Chr19:33301947 [GRCh38]
Chr19:33792853 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.39C>G (p.Pro13=) single nucleotide variant Acute myeloid leukemia [RCV000865392] Chr19:33302376 [GRCh38]
Chr19:33793282 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.330C>T (p.Gly110=) single nucleotide variant Acute myeloid leukemia [RCV000966635] Chr19:33302085 [GRCh38]
Chr19:33792991 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.39C>T (p.Pro13=) single nucleotide variant Acute myeloid leukemia [RCV000871516] Chr19:33302376 [GRCh38]
Chr19:33793282 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.87C>T (p.Ala29=) single nucleotide variant Acute myeloid leukemia [RCV001457716] Chr19:33302328 [GRCh38]
Chr19:33793234 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.705G>T (p.Pro235=) single nucleotide variant Acute myeloid leukemia [RCV000865930] Chr19:33301710 [GRCh38]
Chr19:33792616 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr) single nucleotide variant Acute myeloid leukemia [RCV001036737] Chr19:33301820 [GRCh38]
Chr19:33792726 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.652A>G (p.Met218Val) single nucleotide variant Acute myeloid leukemia [RCV001049065]|not provided [RCV003442170] Chr19:33301763 [GRCh38]
Chr19:33792669 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met) single nucleotide variant Acute myeloid leukemia [RCV001036918] Chr19:33301405 [GRCh38]
Chr19:33792311 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser) single nucleotide variant Acute myeloid leukemia [RCV001055466] Chr19:33302351 [GRCh38]
Chr19:33793257 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala) single nucleotide variant Acute myeloid leukemia [RCV001038896] Chr19:33302081 [GRCh38]
Chr19:33792987 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr) single nucleotide variant Acute myeloid leukemia [RCV001058672] Chr19:33301685 [GRCh38]
Chr19:33792591 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr) single nucleotide variant Acute myeloid leukemia [RCV001059316]|not provided [RCV003222211] Chr19:33302009 [GRCh38]
Chr19:33792915 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys) single nucleotide variant Acute myeloid leukemia [RCV001070242] Chr19:33302027 [GRCh38]
Chr19:33792933 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala) single nucleotide variant Acute myeloid leukemia [RCV001059871] Chr19:33302036 [GRCh38]
Chr19:33792942 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser) single nucleotide variant Acute myeloid leukemia [RCV001060618] Chr19:33302276 [GRCh38]
Chr19:33793182 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.-39C>A single nucleotide variant Acute myeloid leukemia [RCV000767924]|CEBPA-related condition [RCV003965572] Chr19:33302453 [GRCh38]
Chr19:33793359 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.320del (p.Asp107fs) deletion Acute myeloid leukemia [RCV000809619] Chr19:33302095 [GRCh38]
Chr19:33793001 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.591G>A (p.Pro197=) single nucleotide variant Acute myeloid leukemia [RCV000868435] Chr19:33301824 [GRCh38]
Chr19:33792730 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.288C>A (p.Gly96=) single nucleotide variant Acute myeloid leukemia [RCV000872982]|Hereditary cancer-predisposing syndrome [RCV002258019] Chr19:33302127 [GRCh38]
Chr19:33793033 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.363C>A (p.Pro121=) single nucleotide variant Acute myeloid leukemia [RCV001425113] Chr19:33302052 [GRCh38]
Chr19:33792958 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.462G>C (p.Ala154=) single nucleotide variant Acute myeloid leukemia [RCV000873940] Chr19:33301953 [GRCh38]
Chr19:33792859 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.666C>G (p.Pro222=) single nucleotide variant Acute myeloid leukemia [RCV000940285] Chr19:33301749 [GRCh38]
Chr19:33792655 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.756G>C (p.Ala252=) single nucleotide variant Acute myeloid leukemia [RCV000919978] Chr19:33301659 [GRCh38]
Chr19:33792565 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.939G>A (p.Lys313=) single nucleotide variant Acute myeloid leukemia [RCV000922837] Chr19:33301476 [GRCh38]
Chr19:33792382 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.819G>A (p.Lys273=) single nucleotide variant Acute myeloid leukemia [RCV000900544] Chr19:33301596 [GRCh38]
Chr19:33792502 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.786C>T (p.Asp262=) single nucleotide variant Acute myeloid leukemia [RCV000870570] Chr19:33301629 [GRCh38]
Chr19:33792535 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.816C>G (p.Gly272=) single nucleotide variant Acute myeloid leukemia [RCV000873200] Chr19:33301599 [GRCh38]
Chr19:33792505 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.117C>A (p.Pro39=) single nucleotide variant Acute myeloid leukemia [RCV001417062] Chr19:33302298 [GRCh38]
Chr19:33793204 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.357C>T (p.Val119=) single nucleotide variant Acute myeloid leukemia [RCV000867907] Chr19:33302058 [GRCh38]
Chr19:33792964 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.810C>G (p.Gly270=) single nucleotide variant Acute myeloid leukemia [RCV001409564] Chr19:33301605 [GRCh38]
Chr19:33792511 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.831G>T (p.Ser277=) single nucleotide variant Acute myeloid leukemia [RCV000978258] Chr19:33301584 [GRCh38]
Chr19:33792490 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser) single nucleotide variant Acute myeloid leukemia [RCV000817312]|not specified [RCV001816901] Chr19:33301792 [GRCh38]
Chr19:33792698 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg) single nucleotide variant Acute myeloid leukemia [RCV000804402] Chr19:33301864 [GRCh38]
Chr19:33792770 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.386C>A (p.Pro129His) single nucleotide variant Acute myeloid leukemia [RCV000822795] Chr19:33302029 [GRCh38]
Chr19:33792935 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln) single nucleotide variant Acute myeloid leukemia [RCV000823058]|not provided [RCV002508269] Chr19:33302374 [GRCh38]
Chr19:33793280 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu) single nucleotide variant Acute myeloid leukemia [RCV000797616] Chr19:33301880 [GRCh38]
Chr19:33792786 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.114C>A (p.Gly38=) single nucleotide variant Acute myeloid leukemia [RCV000915072] Chr19:33302301 [GRCh38]
Chr19:33793207 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly) single nucleotide variant Acute myeloid leukemia [RCV000817831] Chr19:33301639 [GRCh38]
Chr19:33792545 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys) single nucleotide variant Acute myeloid leukemia [RCV000823988]|not provided [RCV003227867] Chr19:33302114 [GRCh38]
Chr19:33793020 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.429G>A (p.Leu143=) single nucleotide variant Acute myeloid leukemia [RCV001494364] Chr19:33301986 [GRCh38]
Chr19:33792892 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del) microsatellite Acute myeloid leukemia [RCV000797960] Chr19:33302188..33302190 [GRCh38]
Chr19:33793094..33793096 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val) single nucleotide variant Acute myeloid leukemia [RCV000805210] Chr19:33302047 [GRCh38]
Chr19:33792953 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val) single nucleotide variant Acute myeloid leukemia [RCV000824252] Chr19:33301342 [GRCh38]
Chr19:33792248 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val) single nucleotide variant Acute myeloid leukemia [RCV000800030] Chr19:33301600 [GRCh38]
Chr19:33792506 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe) single nucleotide variant Acute myeloid leukemia [RCV000819957] Chr19:33301967 [GRCh38]
Chr19:33792873 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala) single nucleotide variant Acute myeloid leukemia [RCV000795478] Chr19:33301805 [GRCh38]
Chr19:33792711 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) microsatellite Acute myeloid leukemia [RCV000794498]|CEBPA-related condition [RCV003983205]|Hereditary cancer-predisposing syndrome [RCV002259016]|not provided [RCV001811487] Chr19:33301849..33301851 [GRCh38]
Chr19:33792755..33792757 [GRCh37]
Chr19:19q13.11		 benign|likely benign|uncertain significance
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs) indel Acute myeloid leukemia [RCV000798804] Chr19:33302217..33302220 [GRCh38]
Chr19:33793123..33793126 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr) single nucleotide variant Acute myeloid leukemia [RCV000805718] Chr19:33302042 [GRCh38]
Chr19:33792948 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro) single nucleotide variant Acute myeloid leukemia [RCV000822192] Chr19:33302342 [GRCh38]
Chr19:33793248 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.948G>A (p.Glu316=) single nucleotide variant Acute myeloid leukemia [RCV000937630] Chr19:33301467 [GRCh38]
Chr19:33792373 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.54C>G (p.His18Gln) single nucleotide variant Acute myeloid leukemia [RCV000800564] Chr19:33302361 [GRCh38]
Chr19:33793267 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr) single nucleotide variant Acute myeloid leukemia [RCV000805792] Chr19:33302371 [GRCh38]
Chr19:33793277 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val) single nucleotide variant Acute myeloid leukemia [RCV000792449] Chr19:33302257 [GRCh38]
Chr19:33793163 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr) single nucleotide variant Acute myeloid leukemia [RCV000795528] Chr19:33302146 [GRCh38]
Chr19:33793052 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys) single nucleotide variant Acute myeloid leukemia [RCV000803344] Chr19:33301625 [GRCh38]
Chr19:33792531 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr) single nucleotide variant Acute myeloid leukemia [RCV000822838]|Hereditary cancer-predisposing syndrome [RCV002256551] Chr19:33302363 [GRCh38]
Chr19:33793269 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile) single nucleotide variant Acute myeloid leukemia [RCV000820468] Chr19:33302399 [GRCh38]
Chr19:33793305 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val) single nucleotide variant Acute myeloid leukemia [RCV000797460] Chr19:33302225 [GRCh38]
Chr19:33793131 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln) single nucleotide variant Acute myeloid leukemia [RCV000807796] Chr19:33301855 [GRCh38]
Chr19:33792761 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu) single nucleotide variant Acute myeloid leukemia [RCV000818650]|not provided [RCV003151819] Chr19:33301525 [GRCh38]
Chr19:33792431 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys) single nucleotide variant Acute myeloid leukemia [RCV000818719] Chr19:33301871 [GRCh38]
Chr19:33792777 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs) duplication Acute myeloid leukemia [RCV000802429] Chr19:33301501..33301502 [GRCh38]
Chr19:33792407..33792408 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln) single nucleotide variant Acute myeloid leukemia [RCV000805536] Chr19:33301523 [GRCh38]
Chr19:33792429 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33688375-33831558)x1 copy number loss not provided [RCV000848249] Chr19:33688375..33831558 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr) single nucleotide variant Acute myeloid leukemia [RCV000815128] Chr19:33302306 [GRCh38]
Chr19:33793212 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys) single nucleotide variant Acute myeloid leukemia [RCV000802599] Chr19:33302393 [GRCh38]
Chr19:33793299 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu) single nucleotide variant Acute myeloid leukemia [RCV001046316] Chr19:33302125 [GRCh38]
Chr19:33793031 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33792234)_(33793330_?)dup duplication Acute myeloid leukemia [RCV000793492] Chr19:33301328..33302424 [GRCh38]
Chr19:33792234..33793330 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu) single nucleotide variant Acute myeloid leukemia [RCV000805764] Chr19:33302158 [GRCh38]
Chr19:33793064 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu) single nucleotide variant Acute myeloid leukemia [RCV000810892] Chr19:33302206 [GRCh38]
Chr19:33793112 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu) single nucleotide variant Acute myeloid leukemia [RCV000799961] Chr19:33301629 [GRCh38]
Chr19:33792535 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala) single nucleotide variant Acute myeloid leukemia [RCV000813565] Chr19:33301720 [GRCh38]
Chr19:33792626 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser) single nucleotide variant Acute myeloid leukemia [RCV000814296] Chr19:33302036 [GRCh38]
Chr19:33792942 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr) single nucleotide variant Acute myeloid leukemia [RCV001043061] Chr19:33302219 [GRCh38]
Chr19:33793125 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_004364.5(CEBPA):c.1020C>A (p.Gly340=) single nucleotide variant Acute myeloid leukemia [RCV001456776] Chr19:33301395 [GRCh38]
Chr19:33792301 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp) single nucleotide variant Acute myeloid leukemia [RCV001993635] Chr19:33301553 [GRCh38]
Chr19:33792459 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu) single nucleotide variant Acute myeloid leukemia [RCV001043498]|Inborn genetic diseases [RCV003346272] Chr19:33302383 [GRCh38]
Chr19:33793289 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu) single nucleotide variant Acute myeloid leukemia [RCV001992621] Chr19:33302080 [GRCh38]
Chr19:33792986 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser) single nucleotide variant Acute myeloid leukemia [RCV001213738] Chr19:33302378 [GRCh38]
Chr19:33793284 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly) single nucleotide variant Acute myeloid leukemia [RCV001211685]|not provided [RCV002509631] Chr19:33301432 [GRCh38]
Chr19:33792338 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu) single nucleotide variant Acute myeloid leukemia [RCV001213518] Chr19:33301858 [GRCh38]
Chr19:33792764 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del) microsatellite Acute myeloid leukemia [RCV001234484] Chr19:33301849..33301860 [GRCh38]
Chr19:33792755..33792766 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp) single nucleotide variant Acute myeloid leukemia [RCV001224583] Chr19:33302244 [GRCh38]
Chr19:33793150 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly) single nucleotide variant Acute myeloid leukemia [RCV001227042] Chr19:33301984 [GRCh38]
Chr19:33792890 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp) single nucleotide variant Acute myeloid leukemia [RCV001223720] Chr19:33301436 [GRCh38]
Chr19:33792342 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup) duplication Acute myeloid leukemia [RCV001221223] Chr19:33302118..33302119 [GRCh38]
Chr19:33793024..33793025 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp) single nucleotide variant Acute myeloid leukemia [RCV001227110] Chr19:33302312 [GRCh38]
Chr19:33793218 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp) single nucleotide variant Acute myeloid leukemia [RCV001218168] Chr19:33301344 [GRCh38]
Chr19:33792250 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.362C>A (p.Pro121His) single nucleotide variant Acute myeloid leukemia [RCV001237998] Chr19:33302053 [GRCh38]
Chr19:33792959 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.206del (p.Asp69fs) deletion Acute myeloid leukemia [RCV001240401] Chr19:33302209 [GRCh38]
Chr19:33793115 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln) single nucleotide variant Acute myeloid leukemia [RCV001218785] Chr19:33301948 [GRCh38]
Chr19:33792854 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg) single nucleotide variant Acute myeloid leukemia [RCV001229598]|not provided [RCV002269350] Chr19:33301886 [GRCh38]
Chr19:33792792 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg) single nucleotide variant Acute myeloid leukemia [RCV001219268] Chr19:33301652 [GRCh38]
Chr19:33792558 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_004364.5(CEBPA):c.-110C>T single nucleotide variant not provided [RCV001720941] Chr19:33302524 [GRCh38]
Chr19:33793430 [GRCh37]
Chr19:19q13.11		 benign
NM_004364.5(CEBPA):c.165C>T (p.Ile55=) single nucleotide variant Acute myeloid leukemia [RCV001458165] Chr19:33302250 [GRCh38]
Chr19:33793156 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.534C>T (p.Leu178=) single nucleotide variant Acute myeloid leukemia [RCV001475955] Chr19:33301881 [GRCh38]
Chr19:33792787 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.897C>T (p.Ser299=) single nucleotide variant Acute myeloid leukemia [RCV000869160] Chr19:33301518 [GRCh38]
Chr19:33792424 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.798T>C (p.Ser266=) single nucleotide variant Acute myeloid leukemia [RCV000951812]|CEBPA-related condition [RCV003943039] Chr19:33301617 [GRCh38]
Chr19:33792523 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.867C>G (p.Arg289=) single nucleotide variant Acute myeloid leukemia [RCV001478626] Chr19:33301548 [GRCh38]
Chr19:33792454 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.117C>T (p.Pro39=) single nucleotide variant Acute myeloid leukemia [RCV000877516] Chr19:33302298 [GRCh38]
Chr19:33793204 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.387C>A (p.Pro129=) single nucleotide variant Acute myeloid leukemia [RCV000876986] Chr19:33302028 [GRCh38]
Chr19:33792934 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.735C>T (p.Gly245=) single nucleotide variant Acute myeloid leukemia [RCV000868245]|Hereditary cancer-predisposing syndrome [RCV002258013] Chr19:33301680 [GRCh38]
Chr19:33792586 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.960C>T (p.Asp320=) single nucleotide variant Acute myeloid leukemia [RCV000951167] Chr19:33301455 [GRCh38]
Chr19:33792361 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg) single nucleotide variant Acute myeloid leukemia [RCV001218363] Chr19:33302383 [GRCh38]
Chr19:33793289 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp) indel Acute myeloid leukemia [RCV003778472]|not provided [RCV003441332] Chr19:33301947..33301965 [GRCh38]
Chr19:33792853..33792871 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln) single nucleotide variant Acute myeloid leukemia [RCV001036087] Chr19:33302182 [GRCh38]
Chr19:33793088 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly) single nucleotide variant Acute myeloid leukemia [RCV001222914] Chr19:33302179 [GRCh38]
Chr19:33793085 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser) single nucleotide variant Acute myeloid leukemia [RCV001205669] Chr19:33301706 [GRCh38]
Chr19:33792612 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser) single nucleotide variant Acute myeloid leukemia [RCV001208627] Chr19:33301859 [GRCh38]
Chr19:33792765 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp) single nucleotide variant Acute myeloid leukemia [RCV001245618] Chr19:33301672 [GRCh38]
Chr19:33792578 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser) single nucleotide variant Acute myeloid leukemia [RCV001223956] Chr19:33301613 [GRCh38]
Chr19:33792519 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del) deletion Acute myeloid leukemia [RCV001203076] Chr19:33302277..33302288 [GRCh38]
Chr19:33793183..33793194 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu) single nucleotide variant Acute myeloid leukemia [RCV001069275] Chr19:33302047 [GRCh38]
Chr19:33792953 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg) single nucleotide variant Acute myeloid leukemia [RCV001221050] Chr19:33301705 [GRCh38]
Chr19:33792611 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup) microsatellite Acute myeloid leukemia [RCV001206718] Chr19:33302101..33302102 [GRCh38]
Chr19:33793007..33793008 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly) single nucleotide variant Acute myeloid leukemia [RCV001228120] Chr19:33301460 [GRCh38]
Chr19:33792366 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.861_862delinsAA (p.Val287_Arg288=) indel Acute myeloid leukemia [RCV000934747] Chr19:33301553..33301554 [GRCh38]
Chr19:33792459..33792460 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser) single nucleotide variant Acute myeloid leukemia [RCV003633697]|not provided [RCV003237196] Chr19:33301616 [GRCh38]
Chr19:33792522 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.333G>T (p.Ala111=) single nucleotide variant Acute myeloid leukemia [RCV003094263]|CEBPA-related condition [RCV003896092]|Hereditary cancer-predisposing syndrome [RCV002257353] Chr19:33302082 [GRCh38]
Chr19:33792988 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.356_359del (p.Val119fs) deletion Hereditary cancer-predisposing syndrome [RCV002258643] Chr19:33302056..33302059 [GRCh38]
Chr19:33792962..33792965 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala) single nucleotide variant Acute myeloid leukemia [RCV001048574] Chr19:33302264 [GRCh38]
Chr19:33793170 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser) single nucleotide variant Acute myeloid leukemia [RCV001047879] Chr19:33302264 [GRCh38]
Chr19:33793170 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu) single nucleotide variant Acute myeloid leukemia [RCV001070748] Chr19:33302263 [GRCh38]
Chr19:33793169 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val) single nucleotide variant Acute myeloid leukemia [RCV001071510] Chr19:33301351 [GRCh38]
Chr19:33792257 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr) single nucleotide variant Acute myeloid leukemia [RCV001208304]|not specified [RCV002249798] Chr19:33302384 [GRCh38]
Chr19:33793290 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val) single nucleotide variant Acute myeloid leukemia [RCV001052605] Chr19:33301960 [GRCh38]
Chr19:33792866 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser) single nucleotide variant Acute myeloid leukemia [RCV001059958] Chr19:33301634 [GRCh38]
Chr19:33792540 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser) single nucleotide variant Acute myeloid leukemia [RCV001060002] Chr19:33301604 [GRCh38]
Chr19:33792510 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu) indel Acute myeloid leukemia [RCV001049604] Chr19:33301386..33301387 [GRCh38]
Chr19:33792292..33792293 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter) single nucleotide variant Acute myeloid leukemia [RCV001056113]|not provided [RCV001269597] Chr19:33301484 [GRCh38]
Chr19:33792390 [GRCh37]
Chr19:19q13.11		 pathogenic|uncertain significance
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln) single nucleotide variant Acute myeloid leukemia [RCV001206529] Chr19:33302311 [GRCh38]
Chr19:33793217 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly) single nucleotide variant Acute myeloid leukemia [RCV001041973] Chr19:33302008 [GRCh38]
Chr19:33792914 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) single nucleotide variant Acute myeloid leukemia [RCV001207644] Chr19:33302091 [GRCh38]
Chr19:33792997 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala) single nucleotide variant Acute myeloid leukemia [RCV001038661] Chr19:33302300 [GRCh38]
Chr19:33793206 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp) single nucleotide variant Acute myeloid leukemia [RCV001052908] Chr19:33301396 [GRCh38]
Chr19:33792302 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg) single nucleotide variant Acute myeloid leukemia [RCV001236975] Chr19:33301964 [GRCh38]
Chr19:33792870 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg) single nucleotide variant Acute myeloid leukemia [RCV001202924]|not provided [RCV003442760] Chr19:33302122 [GRCh38]
Chr19:33793028 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg) single nucleotide variant Acute myeloid leukemia [RCV001219216] Chr19:33301378 [GRCh38]
Chr19:33792284 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val) single nucleotide variant Acute myeloid leukemia [RCV001047442] Chr19:33301774 [GRCh38]
Chr19:33792680 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser) single nucleotide variant Acute myeloid leukemia [RCV001040030] Chr19:33302120 [GRCh38]
Chr19:33793026 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala) single nucleotide variant Acute myeloid leukemia [RCV001206231] Chr19:33302110 [GRCh38]
Chr19:33793016 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup) microsatellite Acute myeloid leukemia [RCV001206788] Chr19:33301848..33301849 [GRCh38]
Chr19:33792754..33792755 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr) single nucleotide variant Acute myeloid leukemia [RCV001214994] Chr19:33302273 [GRCh38]
Chr19:33793179 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu) single nucleotide variant Acute myeloid leukemia [RCV001218380] Chr19:33302190 [GRCh38]
Chr19:33793096 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu) single nucleotide variant Acute myeloid leukemia [RCV001218618] Chr19:33301870 [GRCh38]
Chr19:33792776 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser) single nucleotide variant Acute myeloid leukemia [RCV001236426] Chr19:33301922 [GRCh38]
Chr19:33792828 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly) single nucleotide variant Acute myeloid leukemia [RCV001070283] Chr19:33301664 [GRCh38]
Chr19:33792570 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.265_267del (p.Glu89del) deletion Acute myeloid leukemia [RCV001247020] Chr19:33302148..33302150 [GRCh38]
Chr19:33793054..33793056 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg) single nucleotide variant Acute myeloid leukemia [RCV001219630] Chr19:33301591 [GRCh38]
Chr19:33792497 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3]) microsatellite Acute myeloid leukemia [RCV001055552] Chr19:33301693..33301694 [GRCh38]
Chr19:33792599..33792600 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) single nucleotide variant Acute myeloid leukemia [RCV001064133] Chr19:33301973 [GRCh38]
Chr19:33792879 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro) single nucleotide variant Acute myeloid leukemia [RCV001064441] Chr19:33302155 [GRCh38]
Chr19:33793061 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr) single nucleotide variant Acute myeloid leukemia [RCV001064631] Chr19:33301663 [GRCh38]
Chr19:33792569 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) single nucleotide variant Acute myeloid leukemia [RCV001054756] Chr19:33302247 [GRCh38]
Chr19:33793153 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys) single nucleotide variant Acute myeloid leukemia [RCV001055292] Chr19:33301990 [GRCh38]
Chr19:33792896 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met) single nucleotide variant Acute myeloid leukemia [RCV001062522] Chr19:33302229 [GRCh38]
Chr19:33793135 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser) single nucleotide variant Acute myeloid leukemia [RCV001056713] Chr19:33302084 [GRCh38]
Chr19:33792990 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.426del (p.Arg142fs) deletion Acute myeloid leukemia [RCV002282594] Chr19:33301989 [GRCh38]
Chr19:33792895 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.747dup (p.Gly250fs) duplication not provided [RCV001269748] Chr19:33301667..33301668 [GRCh38]
Chr19:33792573..33792574 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly) single nucleotide variant Acute myeloid leukemia [RCV002004083] Chr19:33302137 [GRCh38]
Chr19:33793043 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.741G>T (p.Pro247=) single nucleotide variant not provided [RCV001642016] Chr19:33301674 [GRCh38]
Chr19:33792580 [GRCh37]
Chr19:19q13.11		 benign
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser) single nucleotide variant Acute myeloid leukemia [RCV001338028] Chr19:33301442 [GRCh38]
Chr19:33792348 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe) single nucleotide variant Acute myeloid leukemia [RCV001341720] Chr19:33301883 [GRCh38]
Chr19:33792789 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) single nucleotide variant Acute myeloid leukemia [RCV001308122] Chr19:33302258 [GRCh38]
Chr19:33793164 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg) single nucleotide variant Acute myeloid leukemia [RCV001295473] Chr19:33301957 [GRCh38]
Chr19:33792863 [GRCh37]
Chr19:19q13.11		 uncertain significance
NC_000019.9:g.(?_33532300)_(33793320_?)dup duplication Acute myeloid leukemia [RCV001319704] Chr19:33532300..33793320 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.982_985del (p.Val328fs) deletion Acute myeloid leukemia [RCV001341776] Chr19:33301430..33301433 [GRCh38]
Chr19:33792336..33792339 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter) single nucleotide variant Acute myeloid leukemia [RCV001341913] Chr19:33301547 [GRCh38]
Chr19:33792453 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro) single nucleotide variant Acute myeloid leukemia [RCV001315717] Chr19:33301525 [GRCh38]
Chr19:33792431 [GRCh37]
Chr19:19q13.11		 likely pathogenic|uncertain significance
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser) single nucleotide variant Acute myeloid leukemia [RCV001294626] Chr19:33302348 [GRCh38]
Chr19:33793254 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala) single nucleotide variant Acute myeloid leukemia [RCV001349013] Chr19:33301766 [GRCh38]
Chr19:33792672 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser) single nucleotide variant Acute myeloid leukemia [RCV001341219] Chr19:33302255 [GRCh38]
Chr19:33793161 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val) single nucleotide variant Acute myeloid leukemia [RCV001313219] Chr19:33301391 [GRCh38]
Chr19:33792297 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.187G>C (p.Asp63His) single nucleotide variant Acute myeloid leukemia [RCV001319350] Chr19:33302228 [GRCh38]
Chr19:33793134 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala) single nucleotide variant Acute myeloid leukemia [RCV001326490] Chr19:33301489 [GRCh38]
Chr19:33792395 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.766C>T (p.Leu256=) single nucleotide variant Acute myeloid leukemia [RCV001434054] Chr19:33301649 [GRCh38]
Chr19:33792555 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp) single nucleotide variant Acute myeloid leukemia [RCV001317040] Chr19:33302302 [GRCh38]
Chr19:33793208 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu) single nucleotide variant Acute myeloid leukemia [RCV001362415] Chr19:33302060 [GRCh38]
Chr19:33792966 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.408C>A (p.Ala136=) single nucleotide variant Acute myeloid leukemia [RCV001433605] Chr19:33302007 [GRCh38]
Chr19:33792913 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del) microsatellite Acute myeloid leukemia [RCV001306849] Chr19:33302102..33302104 [GRCh38]
Chr19:33793008..33793010 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.780C>T (p.His260=) single nucleotide variant Acute myeloid leukemia [RCV001423012] Chr19:33301635 [GRCh38]
Chr19:33792541 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile) single nucleotide variant Acute myeloid leukemia [RCV001316011] Chr19:33302370 [GRCh38]
Chr19:33793276 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser) single nucleotide variant Acute myeloid leukemia [RCV001325446] Chr19:33302009 [GRCh38]
Chr19:33792915 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp) single nucleotide variant Acute myeloid leukemia [RCV001369493] Chr19:33302409 [GRCh38]
Chr19:33793315 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser) single nucleotide variant Acute myeloid leukemia [RCV001365867]|not provided [RCV001355146] Chr19:33302105 [GRCh38]
Chr19:33793011 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.247del (p.Gln83fs) deletion Acute myeloid leukemia [RCV002282506]|not provided [RCV001269705] Chr19:33302168 [GRCh38]
Chr19:33793074 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) single nucleotide variant Acute myeloid leukemia [RCV001880198]|not provided [RCV001269749] Chr19:33302240 [GRCh38]
Chr19:33793146 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu) single nucleotide variant Acute myeloid leukemia [RCV001351043] Chr19:33301449 [GRCh38]
Chr19:33792355 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp) single nucleotide variant Acute myeloid leukemia [RCV001327464] Chr19:33301885 [GRCh38]
Chr19:33792791 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.555G>A (p.Pro185=) single nucleotide variant Acute myeloid leukemia [RCV001392575] Chr19:33301860 [GRCh38]
Chr19:33792766 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.900C>G (p.Arg300=) single nucleotide variant Acute myeloid leukemia [RCV001415225] Chr19:33301515 [GRCh38]
Chr19:33792421 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val) single nucleotide variant Acute myeloid leukemia [RCV001304328] Chr19:33302296 [GRCh38]
Chr19:33793202 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.111G>A (p.Ala37=) single nucleotide variant Acute myeloid leukemia [RCV001421706] Chr19:33302304 [GRCh38]
Chr19:33793210 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala) single nucleotide variant Acute myeloid leukemia [RCV001294431] Chr19:33302090 [GRCh38]
Chr19:33792996 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe) indel Acute myeloid leukemia [RCV001362573] Chr19:33302290..33302291 [GRCh38]
Chr19:33793196..33793197 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.922G>A (p.Val308Met) single nucleotide variant Acute myeloid leukemia [RCV001361971] Chr19:33301493 [GRCh38]
Chr19:33792399 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu) deletion Acute myeloid leukemia [RCV001304420] Chr19:33302252..33302281 [GRCh38]
Chr19:33793158..33793187 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.156G>A (p.Leu52=) single nucleotide variant Acute myeloid leukemia [RCV001397621] Chr19:33302259 [GRCh38]
Chr19:33793165 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro) single nucleotide variant Acute myeloid leukemia [RCV001296866] Chr19:33301882 [GRCh38]
Chr19:33792788 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) single nucleotide variant Acute myeloid leukemia [RCV001306460]|not provided [RCV003238343] Chr19:33301847 [GRCh38]
Chr19:33792753 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala) single nucleotide variant Acute myeloid leukemia [RCV001295059] Chr19:33302054 [GRCh38]
Chr19:33792960 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His) single nucleotide variant Acute myeloid leukemia [RCV001343433] Chr19:33301387 [GRCh38]
Chr19:33792293 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.494G>A (p.Arg165His) single nucleotide variant Acute myeloid leukemia [RCV001346461] Chr19:33301921 [GRCh38]
Chr19:33792827 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr) single nucleotide variant Acute myeloid leukemia [RCV001346669] Chr19:33301784 [GRCh38]
Chr19:33792690 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.698C>A (p.Pro233His) single nucleotide variant Acute myeloid leukemia [RCV001364865] Chr19:33301717 [GRCh38]
Chr19:33792623 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys) single nucleotide variant Acute myeloid leukemia [RCV001321835] Chr19:33301931 [GRCh38]
Chr19:33792837 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu) single nucleotide variant Acute myeloid leukemia [RCV001371858] Chr19:33301825 [GRCh38]
Chr19:33792731 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.938_939insTCT (p.Lys313delinsAsnLeu) insertion not provided [RCV001269773] Chr19:33301476..33301477 [GRCh38]
Chr19:33792382..33792383 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.655_656insG (p.His219fs) insertion not provided [RCV001269950] Chr19:33301759..33301760 [GRCh38]
Chr19:33792665..33792666 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.436dup (p.Leu146fs) duplication not provided [RCV001269977] Chr19:33301978..33301979 [GRCh38]
Chr19:33792884..33792885 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr) single nucleotide variant Acute myeloid leukemia [RCV001320448]|Hereditary cancer-predisposing syndrome [RCV002256742] Chr19:33302348 [GRCh38]
Chr19:33793254 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro) single nucleotide variant Acute myeloid leukemia [RCV001368679] Chr19:33301999 [GRCh38]
Chr19:33792905 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg) single nucleotide variant Acute myeloid leukemia [RCV001322130] Chr19:33301522 [GRCh38]
Chr19:33792428 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg) single nucleotide variant Acute myeloid leukemia [RCV001323175] Chr19:33302051 [GRCh38]
Chr19:33792957 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu) single nucleotide variant Acute myeloid leukemia [RCV001342700] Chr19:33302347 [GRCh38]
Chr19:33793253 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser) single nucleotide variant Acute myeloid leukemia [RCV001322256] Chr19:33302309 [GRCh38]
Chr19:33793215 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser) single nucleotide variant Acute myeloid leukemia [RCV001350515] Chr19:33301994 [GRCh38]
Chr19:33792900 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu) single nucleotide variant Acute myeloid leukemia [RCV001316130] Chr19:33301447 [GRCh38]
Chr19:33792353 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp) single nucleotide variant Acute myeloid leukemia [RCV001317015]|Inborn genetic diseases [RCV003284184] Chr19:33301964 [GRCh38]
Chr19:33792870 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis) insertion Acute myeloid leukemia [RCV001340024] Chr19:33301848..33301849 [GRCh38]
Chr19:33792754..33792755 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala) single nucleotide variant Acute myeloid leukemia [RCV001344304] Chr19:33301681 [GRCh38]
Chr19:33792587 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly) single nucleotide variant Acute myeloid leukemia [RCV001314074] Chr19:33302336 [GRCh38]
Chr19:33793242 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr) single nucleotide variant Acute myeloid leukemia [RCV001338310]|Inborn genetic diseases [RCV002546843] Chr19:33302315 [GRCh38]
Chr19:33793221 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser) single nucleotide variant Acute myeloid leukemia [RCV001319393] Chr19:33302054 [GRCh38]
Chr19:33792960 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile) single nucleotide variant Acute myeloid leukemia [RCV001341447]|Hereditary cancer-predisposing syndrome [RCV002255649] Chr19:33302060 [GRCh38]
Chr19:33792966 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val) single nucleotide variant Acute myeloid leukemia [RCV001319446] Chr19:33302275 [GRCh38]
Chr19:33793181 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu) single nucleotide variant Acute myeloid leukemia [RCV001370703] Chr19:33301699 [GRCh38]
Chr19:33792605 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr) single nucleotide variant Acute myeloid leukemia [RCV001362402] Chr19:33301832 [GRCh38]
Chr19:33792738 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs) duplication Acute myeloid leukemia [RCV001301138] Chr19:33301389..33301390 [GRCh38]
Chr19:33792295..33792296 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser) single nucleotide variant Acute myeloid leukemia [RCV001294617] Chr19:33302126 [GRCh38]
Chr19:33793032 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn) single nucleotide variant Acute myeloid leukemia [RCV001314650] Chr19:33301514 [GRCh38]
Chr19:33792420 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln) single nucleotide variant Acute myeloid leukemia [RCV001305033] Chr19:33301852 [GRCh38]
Chr19:33792758 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile) single nucleotide variant Acute myeloid leukemia [RCV001352067] Chr19:33302353 [GRCh38]
Chr19:33793259 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.933_934insTTC (p.Gln311_Gln312insPhe) insertion not provided [RCV001269604] Chr19:33301481..33301482 [GRCh38]
Chr19:33792387..33792388 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.911_1038dup (p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer) duplication not provided [RCV001269862] Chr19:33301376..33301377 [GRCh38]
Chr19:33792282..33792283 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.247dup (p.Gln83fs) duplication not provided [RCV001269882] Chr19:33302167..33302168 [GRCh38]
Chr19:33793073..33793074 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu) single nucleotide variant Acute myeloid leukemia [RCV001367183] Chr19:33301493 [GRCh38]
Chr19:33792399 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro) single nucleotide variant Acute myeloid leukemia [RCV001297541]|not provided [RCV003234030] Chr19:33301978 [GRCh38]
Chr19:33792884 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr) single nucleotide variant Acute myeloid leukemia [RCV001300391] Chr19:33302096 [GRCh38]
Chr19:33793002 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val) single nucleotide variant Acute myeloid leukemia [RCV001369375] Chr19:33301702 [GRCh38]
Chr19:33792608 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6]) microsatellite Acute myeloid leukemia [RCV001369395] Chr19:33301825..33301826 [GRCh38]
Chr19:33792731..33792732 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.312C>G (p.Gly104=) single nucleotide variant Acute myeloid leukemia [RCV001412748] Chr19:33302103 [GRCh38]
Chr19:33793009 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.567C>T (p.Pro189=) single nucleotide variant Acute myeloid leukemia [RCV001494280] Chr19:33301848 [GRCh38]
Chr19:33792754 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser) single nucleotide variant Acute myeloid leukemia [RCV001365663] Chr19:33302291 [GRCh38]
Chr19:33793197 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.129C>T (p.Pro43=) single nucleotide variant Acute myeloid leukemia [RCV001494099] Chr19:33302286 [GRCh38]
Chr19:33793192 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.729C>T (p.Ala243=) single nucleotide variant Acute myeloid leukemia [RCV001494286] Chr19:33301686 [GRCh38]
Chr19:33792592 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.222C>T (p.Asn74=) single nucleotide variant Acute myeloid leukemia [RCV001490350] Chr19:33302193 [GRCh38]
Chr19:33793099 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1071C>T (p.Cys357=) single nucleotide variant Acute myeloid leukemia [RCV001475175] Chr19:33301344 [GRCh38]
Chr19:33792250 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.366G>C (p.Gly122=) single nucleotide variant Acute myeloid leukemia [RCV001399874] Chr19:33302049 [GRCh38]
Chr19:33792955 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.327G>C (p.Pro109=) single nucleotide variant Acute myeloid leukemia [RCV001402674] Chr19:33302088 [GRCh38]
Chr19:33792994 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.447C>T (p.Arg149=) single nucleotide variant Acute myeloid leukemia [RCV001503835]|CEBPA-related condition [RCV003908794] Chr19:33301968 [GRCh38]
Chr19:33792874 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.453G>T (p.Gly151=) single nucleotide variant Acute myeloid leukemia [RCV001504230] Chr19:33301962 [GRCh38]
Chr19:33792868 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.348C>A (p.Gly116=) single nucleotide variant Acute myeloid leukemia [RCV001505808] Chr19:33302067 [GRCh38]
Chr19:33792973 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.81C>T (p.Ser27=) single nucleotide variant Acute myeloid leukemia [RCV001456328] Chr19:33302334 [GRCh38]
Chr19:33793240 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.462G>A (p.Ala154=) single nucleotide variant Acute myeloid leukemia [RCV001486905] Chr19:33301953 [GRCh38]
Chr19:33792859 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.330C>A (p.Gly110=) single nucleotide variant Acute myeloid leukemia [RCV001463560] Chr19:33302085 [GRCh38]
Chr19:33792991 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.837C>T (p.Asp279=) single nucleotide variant Acute myeloid leukemia [RCV001504990] Chr19:33301578 [GRCh38]
Chr19:33792484 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.894G>A (p.Lys298=) single nucleotide variant Acute myeloid leukemia [RCV001463754] Chr19:33301521 [GRCh38]
Chr19:33792427 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.177G>A (p.Glu59=) single nucleotide variant Acute myeloid leukemia [RCV001438389] Chr19:33302238 [GRCh38]
Chr19:33793144 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.84C>T (p.Ser28=) single nucleotide variant Acute myeloid leukemia [RCV001445955] Chr19:33302331 [GRCh38]
Chr19:33793237 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.105G>A (p.Arg35=) single nucleotide variant Acute myeloid leukemia [RCV001430029] Chr19:33302310 [GRCh38]
Chr19:33793216 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.477G>A (p.Val159=) single nucleotide variant Acute myeloid leukemia [RCV001397904] Chr19:33301938 [GRCh38]
Chr19:33792844 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.315C>T (p.Asp105=) single nucleotide variant Acute myeloid leukemia [RCV001439735] Chr19:33302100 [GRCh38]
Chr19:33793006 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=) single nucleotide variant Acute myeloid leukemia [RCV001438956] Chr19:33301398 [GRCh38]
Chr19:33792304 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.783C>T (p.Pro261=) single nucleotide variant Acute myeloid leukemia [RCV001410093] Chr19:33301632 [GRCh38]
Chr19:33792538 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.108C>T (p.Gly36=) single nucleotide variant Acute myeloid leukemia [RCV001426616] Chr19:33302307 [GRCh38]
Chr19:33793213 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.723C>A (p.Leu241=) single nucleotide variant Acute myeloid leukemia [RCV001444258] Chr19:33301692 [GRCh38]
Chr19:33792598 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.459G>C (p.Pro153=) single nucleotide variant Acute myeloid leukemia [RCV001441907] Chr19:33301956 [GRCh38]
Chr19:33792862 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.792C>T (p.Arg264=) single nucleotide variant Acute myeloid leukemia [RCV001405560] Chr19:33301623 [GRCh38]
Chr19:33792529 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.57G>A (p.Leu19=) single nucleotide variant Acute myeloid leukemia [RCV001428691] Chr19:33302358 [GRCh38]
Chr19:33793264 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.528C>A (p.Ala176=) single nucleotide variant Acute myeloid leukemia [RCV001444715] Chr19:33301887 [GRCh38]
Chr19:33792793 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.339G>A (p.Ala113=) single nucleotide variant Acute myeloid leukemia [RCV001407992] Chr19:33302076 [GRCh38]
Chr19:33792982 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=) single nucleotide variant Acute myeloid leukemia [RCV001436613] Chr19:33301395 [GRCh38]
Chr19:33792301 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.777G>T (p.Ala259=) single nucleotide variant Acute myeloid leukemia [RCV001411209] Chr19:33301638 [GRCh38]
Chr19:33792544 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.297C>A (p.Gly99=) single nucleotide variant Acute myeloid leukemia [RCV001436759] Chr19:33302118 [GRCh38]
Chr19:33793024 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.987A>G (p.Glu329=) single nucleotide variant Acute myeloid leukemia [RCV001472836] Chr19:33301428 [GRCh38]
Chr19:33792334 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1074G>T (p.Ala358=) single nucleotide variant Acute myeloid leukemia [RCV001450649] Chr19:33301341 [GRCh38]
Chr19:33792247 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.24G>A (p.Glu8=) single nucleotide variant Acute myeloid leukemia [RCV001466164] Chr19:33302391 [GRCh38]
Chr19:33793297 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.666C>T (p.Pro222=) single nucleotide variant Acute myeloid leukemia [RCV001500255] Chr19:33301749 [GRCh38]
Chr19:33792655 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.963T>C (p.Asn321=) single nucleotide variant Acute myeloid leukemia [RCV001480917] Chr19:33301452 [GRCh38]
Chr19:33792358 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.609C>G (p.Ala203=) single nucleotide variant Acute myeloid leukemia [RCV001504485] Chr19:33301806 [GRCh38]
Chr19:33792712 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.186C>T (p.Ile62=) single nucleotide variant Acute myeloid leukemia [RCV001489243] Chr19:33302229 [GRCh38]
Chr19:33793135 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.183C>T (p.Ser61=) single nucleotide variant Acute myeloid leukemia [RCV001472119] Chr19:33302232 [GRCh38]
Chr19:33793138 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.294G>A (p.Thr98=) single nucleotide variant Acute myeloid leukemia [RCV001424652] Chr19:33302121 [GRCh38]
Chr19:33793027 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.822C>T (p.Ala274=) single nucleotide variant Acute myeloid leukemia [RCV001417419] Chr19:33301593 [GRCh38]
Chr19:33792499 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.375C>T (p.His125=) single nucleotide variant Acute myeloid leukemia [RCV001477646] Chr19:33302040 [GRCh38]
Chr19:33792946 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.363C>T (p.Pro121=) single nucleotide variant Acute myeloid leukemia [RCV001453775] Chr19:33302052 [GRCh38]
Chr19:33792958 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.525G>A (p.Leu175=) single nucleotide variant Acute myeloid leukemia [RCV001488068] Chr19:33301890 [GRCh38]
Chr19:33792796 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.954C>T (p.Thr318=) single nucleotide variant Acute myeloid leukemia [RCV001497523] Chr19:33301461 [GRCh38]
Chr19:33792367 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.861G>A (p.Val287=) single nucleotide variant Acute myeloid leukemia [RCV001431851] Chr19:33301554 [GRCh38]
Chr19:33792460 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.720G>T (p.Ala240=) single nucleotide variant Acute myeloid leukemia [RCV001457766] Chr19:33301695 [GRCh38]
Chr19:33792601 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.285G>A (p.Val95=) single nucleotide variant Acute myeloid leukemia [RCV001451692] Chr19:33302130 [GRCh38]
Chr19:33793036 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.453G>A (p.Gly151=) single nucleotide variant Acute myeloid leukemia [RCV001434645] Chr19:33301962 [GRCh38]
Chr19:33792868 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.330C>G (p.Gly110=) single nucleotide variant Acute myeloid leukemia [RCV001436860] Chr19:33302085 [GRCh38]
Chr19:33792991 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.36G>A (p.Arg12=) single nucleotide variant Acute myeloid leukemia [RCV001468099] Chr19:33302379 [GRCh38]
Chr19:33793285 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.186C>A (p.Ile62=) single nucleotide variant Acute myeloid leukemia [RCV001400796] Chr19:33302229 [GRCh38]
Chr19:33793135 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.594C>A (p.Pro198=) single nucleotide variant Acute myeloid leukemia [RCV001462175] Chr19:33301821 [GRCh38]
Chr19:33792727 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.108C>A (p.Gly36=) single nucleotide variant Acute myeloid leukemia [RCV001471881] Chr19:33302307 [GRCh38]
Chr19:33793213 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.60dup (p.Ser21fs) duplication Acute myeloid leukemia [RCV001379181] Chr19:33302354..33302355 [GRCh38]
Chr19:33793260..33793261 [GRCh37]
Chr19:19q13.11		 pathogenic|likely pathogenic
NM_004364.5(CEBPA):c.945G>A (p.Leu315=) single nucleotide variant Acute myeloid leukemia [RCV001417072] Chr19:33301470 [GRCh38]
Chr19:33792376 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.342_343insATGA (p.Pro115fs) insertion Hereditary cancer-predisposing syndrome [RCV002257354] Chr19:33302072..33302073 [GRCh38]
Chr19:33792978..33792979 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met) single nucleotide variant Acute myeloid leukemia [RCV002277731] Chr19:33301472 [GRCh38]
Chr19:33792378 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys) single nucleotide variant Acute myeloid leukemia [RCV002277737] Chr19:33301376 [GRCh38]
Chr19:33792282 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr) single nucleotide variant Acute myeloid leukemia [RCV002277738] Chr19:33301372 [GRCh38]
Chr19:33792278 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.*93T>G single nucleotide variant Acute myeloid leukemia [RCV002277743] Chr19:33301245 [GRCh38]
Chr19:33792151 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.*87G>A single nucleotide variant Acute myeloid leukemia [RCV002277746] Chr19:33301251 [GRCh38]
Chr19:33792157 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.692C>A (p.Pro231His) single nucleotide variant not provided [RCV003238434] Chr19:33301723 [GRCh38]
Chr19:33792629 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.307G>T (p.Gly103Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257352] Chr19:33302108 [GRCh38]
Chr19:33793014 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) deletion Acute myeloid leukemia [RCV001785421] Chr19:33302250..33302268 [GRCh38]
Chr19:33793156..33793174 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
NM_004364.5(CEBPA):c.158del (p.Gly53fs) deletion Acute myeloid leukemia [RCV001785422] Chr19:33302257 [GRCh38]
Chr19:33793163 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
NM_004364.5(CEBPA):c.189del (p.Asp63fs) deletion Acute myeloid leukemia [RCV001785423] Chr19:33302226 [GRCh38]
Chr19:33793132 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) insertion Acute myeloid leukemia [RCV001785424] Chr19:33302100..33302101 [GRCh38]
Chr19:33793006..33793007 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) single nucleotide variant Acute myeloid leukemia [RCV001785425] Chr19:33301483 [GRCh38]
Chr19:33792389 [GRCh37]
Chr19:19q13.11		 pathogenic|not provided
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg) single nucleotide variant Acute myeloid leukemia [RCV001990635] Chr19:33302160 [GRCh38]
Chr19:33793066 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.914A>C (p.Gln305Pro) single nucleotide variant not specified [RCV001817964] Chr19:33301501 [GRCh38]
Chr19:33792407 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs) duplication not provided [RCV001817756] Chr19:33302153..33302154 [GRCh38]
Chr19:33793059..33793060 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.579C>T (p.His193=) single nucleotide variant Acute myeloid leukemia [RCV002074314]|not specified [RCV001819571] Chr19:33301836 [GRCh38]
Chr19:33792742 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser) single nucleotide variant Acute myeloid leukemia [RCV003460386] Chr19:33302249 [GRCh38]
Chr19:33793155 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg) single nucleotide variant Acute myeloid leukemia [RCV003460389] Chr19:33301942 [GRCh38]
Chr19:33792848 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.705G>A (p.Pro235=) single nucleotide variant Acute myeloid leukemia [RCV002077240]|not provided [RCV001811824] Chr19:33301710 [GRCh38]
Chr19:33792616 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg) single nucleotide variant Acute myeloid leukemia [RCV001993566] Chr19:33301633 [GRCh38]
Chr19:33792539 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr) single nucleotide variant Acute myeloid leukemia [RCV001865151] Chr19:33301718 [GRCh38]
Chr19:33792624 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp) single nucleotide variant Acute myeloid leukemia [RCV001875625] Chr19:33301563 [GRCh38]
Chr19:33792469 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.72C>G (p.His24Gln) single nucleotide variant Acute myeloid leukemia [RCV002045985] Chr19:33302343 [GRCh38]
Chr19:33793249 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu) single nucleotide variant Acute myeloid leukemia [RCV001874291] Chr19:33301840 [GRCh38]
Chr19:33792746 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg) single nucleotide variant Acute myeloid leukemia [RCV001877724] Chr19:33302377 [GRCh38]
Chr19:33793283 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.858G>C (p.Arg286=) single nucleotide variant Acute myeloid leukemia [RCV001870734] Chr19:33301557 [GRCh38]
Chr19:33792463 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val) single nucleotide variant Acute myeloid leukemia [RCV001875415] Chr19:33302341 [GRCh38]
Chr19:33793247 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4]) insertion Acute myeloid leukemia [RCV002002581] Chr19:33301845..33301846 [GRCh38]
Chr19:33792751..33792752 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser) single nucleotide variant Acute myeloid leukemia [RCV002004726] Chr19:33301540 [GRCh38]
Chr19:33792446 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg) single nucleotide variant Acute myeloid leukemia [RCV001995629] Chr19:33302334 [GRCh38]
Chr19:33793240 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.598C>G (p.His200Asp) single nucleotide variant Acute myeloid leukemia [RCV002005647] Chr19:33301817 [GRCh38]
Chr19:33792723 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys) single nucleotide variant Acute myeloid leukemia [RCV002045297] Chr19:33301973 [GRCh38]
Chr19:33792879 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro) single nucleotide variant Acute myeloid leukemia [RCV002042057] Chr19:33301463 [GRCh38]
Chr19:33792369 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly) single nucleotide variant Acute myeloid leukemia [RCV002044177] Chr19:33301342 [GRCh38]
Chr19:33792248 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.797del (p.Ser266fs) deletion Acute myeloid leukemia [RCV002048473] Chr19:33301618 [GRCh38]
Chr19:33792524 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser) single nucleotide variant Acute myeloid leukemia [RCV002032902] Chr19:33301823 [GRCh38]
Chr19:33792729 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser) single nucleotide variant Acute myeloid leukemia [RCV002021652] Chr19:33301958 [GRCh38]
Chr19:33792864 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis) insertion Acute myeloid leukemia [RCV002030724] Chr19:33301848..33301849 [GRCh38]
Chr19:33792754..33792755 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr) single nucleotide variant Acute myeloid leukemia [RCV001999052] Chr19:33302351 [GRCh38]
Chr19:33793257 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala) single nucleotide variant Acute myeloid leukemia [RCV002034038] Chr19:33302282 [GRCh38]
Chr19:33793188 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.69del (p.His24fs) deletion Acute myeloid leukemia [RCV002037764] Chr19:33302346 [GRCh38]
Chr19:33793252 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu) single nucleotide variant Acute myeloid leukemia [RCV002039697] Chr19:33301651 [GRCh38]
Chr19:33792557 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala) single nucleotide variant Acute myeloid leukemia [RCV002044415] Chr19:33302038 [GRCh38]
Chr19:33792944 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu) indel Acute myeloid leukemia [RCV002042969] Chr19:33301603..33301604 [GRCh38]
Chr19:33792509..33792510 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.270G>A (p.Lys90=) single nucleotide variant Acute myeloid leukemia [RCV002044101] Chr19:33302145 [GRCh38]
Chr19:33793051 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr) single nucleotide variant Acute myeloid leukemia [RCV002047842] Chr19:33301604 [GRCh38]
Chr19:33792510 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu) single nucleotide variant Acute myeloid leukemia [RCV002048369]|Hereditary cancer-predisposing syndrome [RCV002256890]|not provided [RCV002469448] Chr19:33301364 [GRCh38]
Chr19:33792270 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu) single nucleotide variant Acute myeloid leukemia [RCV002048262] Chr19:33302097 [GRCh38]
Chr19:33793003 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu) single nucleotide variant Acute myeloid leukemia [RCV002004855]|not provided [RCV003223744] Chr19:33301355 [GRCh38]
Chr19:33792261 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn) single nucleotide variant Acute myeloid leukemia [RCV002018792] Chr19:33301451 [GRCh38]
Chr19:33792357 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val) single nucleotide variant Acute myeloid leukemia [RCV002019878] Chr19:33301810 [GRCh38]
Chr19:33792716 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.585C>G (p.His195Gln) single nucleotide variant Acute myeloid leukemia [RCV002029981] Chr19:33301830 [GRCh38]
Chr19:33792736 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln) single nucleotide variant Acute myeloid leukemia [RCV002030941] Chr19:33302206 [GRCh38]
Chr19:33793112 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.125del (p.Pro42fs) deletion Acute myeloid leukemia [RCV002035440] Chr19:33302290 [GRCh38]
Chr19:33793196 [GRCh37]
Chr19:19q13.11		 pathogenic
GRCh37/hg19 19q13.11(chr19:32827535-35263640) copy number gain not specified [RCV002052679] Chr19:32827535..35263640 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs) deletion Acute myeloid leukemia [RCV002027452] Chr19:33301854..33301857 [GRCh38]
Chr19:33792760..33792763 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.634C>G (p.His212Asp) single nucleotide variant Acute myeloid leukemia [RCV002034044] Chr19:33301781 [GRCh38]
Chr19:33792687 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu) single nucleotide variant Acute myeloid leukemia [RCV002007752] Chr19:33301753 [GRCh38]
Chr19:33792659 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg) single nucleotide variant Acute myeloid leukemia [RCV002010566] Chr19:33301999 [GRCh38]
Chr19:33792905 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546G>C (p.Gln182His) single nucleotide variant Acute myeloid leukemia [RCV002048790] Chr19:33301869 [GRCh38]
Chr19:33792775 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter) single nucleotide variant Acute myeloid leukemia [RCV002050469] Chr19:33301585 [GRCh38]
Chr19:33792491 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp) single nucleotide variant Acute myeloid leukemia [RCV002050258] Chr19:33301983 [GRCh38]
Chr19:33792889 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser) single nucleotide variant Acute myeloid leukemia [RCV002030740] Chr19:33302117 [GRCh38]
Chr19:33793023 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup) duplication Acute myeloid leukemia [RCV002030898] Chr19:33302057..33302058 [GRCh38]
Chr19:33792963..33792964 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn) single nucleotide variant Acute myeloid leukemia [RCV001955571] Chr19:33302192 [GRCh38]
Chr19:33793098 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg) single nucleotide variant Acute myeloid leukemia [RCV001936611] Chr19:33301964 [GRCh38]
Chr19:33792870 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu) single nucleotide variant Acute myeloid leukemia [RCV001937006] Chr19:33302389 [GRCh38]
Chr19:33793295 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg) single nucleotide variant Acute myeloid leukemia [RCV001885683] Chr19:33302356 [GRCh38]
Chr19:33793262 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val) single nucleotide variant Acute myeloid leukemia [RCV001915262] Chr19:33301912 [GRCh38]
Chr19:33792818 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu) single nucleotide variant Acute myeloid leukemia [RCV001888123] Chr19:33301940 [GRCh38]
Chr19:33792846 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys) single nucleotide variant Acute myeloid leukemia [RCV001976448] Chr19:33301565 [GRCh38]
Chr19:33792471 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.635A>G (p.His212Arg) single nucleotide variant Acute myeloid leukemia [RCV001890922] Chr19:33301780 [GRCh38]
Chr19:33792686 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr) single nucleotide variant Acute myeloid leukemia [RCV001919876] Chr19:33302378 [GRCh38]
Chr19:33793284 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu) single nucleotide variant Acute myeloid leukemia [RCV001978093] Chr19:33301483 [GRCh38]
Chr19:33792389 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp) single nucleotide variant Acute myeloid leukemia [RCV001892484] Chr19:33301966 [GRCh38]
Chr19:33792872 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly) single nucleotide variant Acute myeloid leukemia [RCV001894363] Chr19:33301408 [GRCh38]
Chr19:33792314 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn) single nucleotide variant Acute myeloid leukemia [RCV001954859] Chr19:33302332 [GRCh38]
Chr19:33793238 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly) single nucleotide variant Acute myeloid leukemia [RCV001955944] Chr19:33302131 [GRCh38]
Chr19:33793037 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala) single nucleotide variant Acute myeloid leukemia [RCV001984698] Chr19:33301555 [GRCh38]
Chr19:33792461 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu) single nucleotide variant Acute myeloid leukemia [RCV001954308] Chr19:33301741 [GRCh38]
Chr19:33792647 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.864G>C (p.Arg288=) single nucleotide variant Acute myeloid leukemia [RCV001901368] Chr19:33301551 [GRCh38]
Chr19:33792457 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu) single nucleotide variant Acute myeloid leukemia [RCV001957213] Chr19:33301585 [GRCh38]
Chr19:33792491 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.174C>G (p.His58Gln) single nucleotide variant Acute myeloid leukemia [RCV001962123] Chr19:33302241 [GRCh38]
Chr19:33793147 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu) single nucleotide variant Acute myeloid leukemia [RCV001956953] Chr19:33301556 [GRCh38]
Chr19:33792462 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile) indel Acute myeloid leukemia [RCV001907220] Chr19:33301450..33301451 [GRCh38]
Chr19:33792356..33792357 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg) single nucleotide variant Acute myeloid leukemia [RCV001907326] Chr19:33302111 [GRCh38]
Chr19:33793017 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr) single nucleotide variant Acute myeloid leukemia [RCV001908377] Chr19:33301508 [GRCh38]
Chr19:33792414 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.13G>C (p.Asp5His) single nucleotide variant Acute myeloid leukemia [RCV001969995] Chr19:33302402 [GRCh38]
Chr19:33793308 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly) single nucleotide variant Acute myeloid leukemia [RCV001970813] Chr19:33302366 [GRCh38]
Chr19:33793272 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr) single nucleotide variant Acute myeloid leukemia [RCV001971562] Chr19:33301688 [GRCh38]
Chr19:33792594 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr) single nucleotide variant Acute myeloid leukemia [RCV001973293] Chr19:33301349 [GRCh38]
Chr19:33792255 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu) single nucleotide variant Acute myeloid leukemia [RCV001885739] Chr19:33302032 [GRCh38]
Chr19:33792938 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu) single nucleotide variant Acute myeloid leukemia [RCV001885792] Chr19:33301960 [GRCh38]
Chr19:33792866 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser) single nucleotide variant Acute myeloid leukemia [RCV001940643]|not provided [RCV003225203] Chr19:33302072 [GRCh38]
Chr19:33792978 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly) single nucleotide variant Acute myeloid leukemia [RCV001914876] Chr19:33301888 [GRCh38]
Chr19:33792794 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu) single nucleotide variant Acute myeloid leukemia [RCV001973262] Chr19:33301791 [GRCh38]
Chr19:33792697 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup) duplication Acute myeloid leukemia [RCV001889634] Chr19:33301690..33301691 [GRCh38]
Chr19:33792596..33792597 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser) single nucleotide variant Acute myeloid leukemia [RCV001918227] Chr19:33302201 [GRCh38]
Chr19:33793107 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro) single nucleotide variant Acute myeloid leukemia [RCV001973812] Chr19:33301693 [GRCh38]
Chr19:33792599 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup) duplication Acute myeloid leukemia [RCV001889813] Chr19:33302000..33302001 [GRCh38]
Chr19:33792906..33792907 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr) single nucleotide variant Acute myeloid leukemia [RCV001891075] Chr19:33301580 [GRCh38]
Chr19:33792486 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser) single nucleotide variant Acute myeloid leukemia [RCV001891890] Chr19:33301784 [GRCh38]
Chr19:33792690 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr) single nucleotide variant Acute myeloid leukemia [RCV001978659] Chr19:33302207 [GRCh38]
Chr19:33793113 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg) single nucleotide variant Acute myeloid leukemia [RCV001951701] Chr19:33302021 [GRCh38]
Chr19:33792927 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val) single nucleotide variant Acute myeloid leukemia [RCV001924036] Chr19:33302188 [GRCh38]
Chr19:33793094 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu) single nucleotide variant Acute myeloid leukemia [RCV001896284] Chr19:33301861 [GRCh38]
Chr19:33792767 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp) single nucleotide variant Acute myeloid leukemia [RCV001900965] Chr19:33302107 [GRCh38]
Chr19:33793013 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly) single nucleotide variant Acute myeloid leukemia [RCV001957219]|not provided [RCV002282650] Chr19:33301642 [GRCh38]
Chr19:33792548 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter) single nucleotide variant Acute myeloid leukemia [RCV001986459] Chr19:33301776 [GRCh38]
Chr19:33792682 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu) single nucleotide variant Acute myeloid leukemia [RCV001900974] Chr19:33302132 [GRCh38]
Chr19:33793038 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro) single nucleotide variant Acute myeloid leukemia [RCV001958225]|not provided [RCV003170098] Chr19:33301624 [GRCh38]
Chr19:33792530 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser) single nucleotide variant Acute myeloid leukemia [RCV001989881] Chr19:33302330 [GRCh38]
Chr19:33793236 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.872G>A (p.Arg291His) single nucleotide variant Acute myeloid leukemia [RCV001879085] Chr19:33301543 [GRCh38]
Chr19:33792449 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala) single nucleotide variant Acute myeloid leukemia [RCV001964438] Chr19:33301835 [GRCh38]
Chr19:33792741 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu) single nucleotide variant Acute myeloid leukemia [RCV001881590] Chr19:33301981 [GRCh38]
Chr19:33792887 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu) single nucleotide variant Acute myeloid leukemia [RCV001911349] Chr19:33301705 [GRCh38]
Chr19:33792611 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup) duplication Acute myeloid leukemia [RCV001969381] Chr19:33302099..33302100 [GRCh38]
Chr19:33793005..33793006 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly) single nucleotide variant Acute myeloid leukemia [RCV001942585] Chr19:33301603 [GRCh38]
Chr19:33792509 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys) single nucleotide variant Acute myeloid leukemia [RCV001974432] Chr19:33301502 [GRCh38]
Chr19:33792408 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp) single nucleotide variant Acute myeloid leukemia [RCV001916919] Chr19:33301747 [GRCh38]
Chr19:33792653 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu) single nucleotide variant Acute myeloid leukemia [RCV001975894] Chr19:33302137 [GRCh38]
Chr19:33793043 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr) single nucleotide variant Acute myeloid leukemia [RCV001919386] Chr19:33302335 [GRCh38]
Chr19:33793241 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr) single nucleotide variant Acute myeloid leukemia [RCV001922085] Chr19:33302138 [GRCh38]
Chr19:33793044 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg) single nucleotide variant Acute myeloid leukemia [RCV001879155] Chr19:33301840 [GRCh38]
Chr19:33792746 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.421G>C (p.Gly141Arg) single nucleotide variant Acute myeloid leukemia [RCV001938151] Chr19:33301994 [GRCh38]
Chr19:33792900 [GRCh37]
Chr19:19q13.11		 likely benign|uncertain significance
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln) single nucleotide variant Acute myeloid leukemia [RCV001958218] Chr19:33301957 [GRCh38]
Chr19:33792863 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser) single nucleotide variant Acute myeloid leukemia [RCV001964807] Chr19:33301853 [GRCh38]
Chr19:33792759 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val) single nucleotide variant Acute myeloid leukemia [RCV001964668] Chr19:33302062 [GRCh38]
Chr19:33792968 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr) single nucleotide variant Acute myeloid leukemia [RCV001928243]|Inborn genetic diseases [RCV003355647] Chr19:33302270 [GRCh38]
Chr19:33793176 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.43A>G (p.Met15Val) single nucleotide variant Acute myeloid leukemia [RCV001884839] Chr19:33302372 [GRCh38]
Chr19:33793278 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp) single nucleotide variant Acute myeloid leukemia [RCV001966646] Chr19:33301846 [GRCh38]
Chr19:33792752 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val) single nucleotide variant Acute myeloid leukemia [RCV001911428] Chr19:33302284 [GRCh38]
Chr19:33793190 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys) single nucleotide variant Acute myeloid leukemia [RCV001886838] Chr19:33301388 [GRCh38]
Chr19:33792294 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe) indel Acute myeloid leukemia [RCV001949774] Chr19:33301658..33301659 [GRCh38]
Chr19:33792564..33792565 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr) single nucleotide variant Acute myeloid leukemia [RCV001950257] Chr19:33301823 [GRCh38]
Chr19:33792729 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys) single nucleotide variant Acute myeloid leukemia [RCV001887997] Chr19:33301928 [GRCh38]
Chr19:33792834 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu) single nucleotide variant Acute myeloid leukemia [RCV001929424] Chr19:33301963 [GRCh38]
Chr19:33792869 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg) single nucleotide variant Acute myeloid leukemia [RCV001973430] Chr19:33301867 [GRCh38]
Chr19:33792773 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg) single nucleotide variant Acute myeloid leukemia [RCV001952597] Chr19:33301834 [GRCh38]
Chr19:33792740 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys) single nucleotide variant Acute myeloid leukemia [RCV001914106] Chr19:33301970 [GRCh38]
Chr19:33792876 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.9G>C (p.Ser3=) single nucleotide variant Acute myeloid leukemia [RCV002191010] Chr19:33302406 [GRCh38]
Chr19:33793312 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.348C>T (p.Gly116=) single nucleotide variant Acute myeloid leukemia [RCV002188891] Chr19:33302067 [GRCh38]
Chr19:33792973 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.384G>A (p.Pro128=) single nucleotide variant Acute myeloid leukemia [RCV002105949] Chr19:33302031 [GRCh38]
Chr19:33792937 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.9G>T (p.Ser3=) single nucleotide variant Acute myeloid leukemia [RCV002078396] Chr19:33302406 [GRCh38]
Chr19:33793312 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.466C>A (p.Arg156=) single nucleotide variant Acute myeloid leukemia [RCV002077910] Chr19:33301949 [GRCh38]
Chr19:33792855 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.717C>T (p.Pro239=) single nucleotide variant Acute myeloid leukemia [RCV002118434] Chr19:33301698 [GRCh38]
Chr19:33792604 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.621G>A (p.Gln207=) single nucleotide variant Acute myeloid leukemia [RCV002212283] Chr19:33301794 [GRCh38]
Chr19:33792700 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.747T>C (p.Pro249=) single nucleotide variant Acute myeloid leukemia [RCV002086835] Chr19:33301668 [GRCh38]
Chr19:33792574 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.852G>A (p.Glu284=) single nucleotide variant Acute myeloid leukemia [RCV002212309] Chr19:33301563 [GRCh38]
Chr19:33792469 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.699C>T (p.Pro233=) single nucleotide variant Acute myeloid leukemia [RCV002128591] Chr19:33301716 [GRCh38]
Chr19:33792622 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.18C>T (p.Phe6=) single nucleotide variant Acute myeloid leukemia [RCV002112216] Chr19:33302397 [GRCh38]
Chr19:33793303 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1048T>C (p.Leu350=) single nucleotide variant Acute myeloid leukemia [RCV002104358] Chr19:33301367 [GRCh38]
Chr19:33792273 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.582G>A (p.Pro194=) single nucleotide variant Acute myeloid leukemia [RCV002108332] Chr19:33301833 [GRCh38]
Chr19:33792739 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.658C>T (p.Leu220=) single nucleotide variant Acute myeloid leukemia [RCV002161446] Chr19:33301757 [GRCh38]
Chr19:33792663 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.570G>A (p.Ser190=) single nucleotide variant Acute myeloid leukemia [RCV002164311] Chr19:33301845 [GRCh38]
Chr19:33792751 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.438G>A (p.Leu146=) single nucleotide variant Acute myeloid leukemia [RCV002168752] Chr19:33301977 [GRCh38]
Chr19:33792883 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.144C>T (p.Ala48=) single nucleotide variant Acute myeloid leukemia [RCV002140891] Chr19:33302271 [GRCh38]
Chr19:33793177 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.693C>A (p.Pro231=) single nucleotide variant Acute myeloid leukemia [RCV002144709] Chr19:33301722 [GRCh38]
Chr19:33792628 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.237C>T (p.Ala79=) single nucleotide variant Acute myeloid leukemia [RCV002193091] Chr19:33302178 [GRCh38]
Chr19:33793084 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.846C>T (p.Ser282=) single nucleotide variant Acute myeloid leukemia [RCV002197718] Chr19:33301569 [GRCh38]
Chr19:33792475 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.366G>A (p.Gly122=) single nucleotide variant Acute myeloid leukemia [RCV002204638] Chr19:33302049 [GRCh38]
Chr19:33792955 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.774C>A (p.Ala258=) single nucleotide variant Acute myeloid leukemia [RCV002208549] Chr19:33301641 [GRCh38]
Chr19:33792547 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.966C>T (p.Asp322=) single nucleotide variant Acute myeloid leukemia [RCV002218812] Chr19:33301449 [GRCh38]
Chr19:33792355 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.162C>T (p.Gly54=) single nucleotide variant Acute myeloid leukemia [RCV002220915] Chr19:33302253 [GRCh38]
Chr19:33793159 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.678G>A (p.Thr226=) single nucleotide variant Acute myeloid leukemia [RCV002101509] Chr19:33301737 [GRCh38]
Chr19:33792643 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.378G>A (p.Gly126=) single nucleotide variant Acute myeloid leukemia [RCV002219743] Chr19:33302037 [GRCh38]
Chr19:33792943 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.210G>C (p.Pro70=) single nucleotide variant Acute myeloid leukemia [RCV002112417] Chr19:33302205 [GRCh38]
Chr19:33793111 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.585C>T (p.His195=) single nucleotide variant Acute myeloid leukemia [RCV002119754] Chr19:33301830 [GRCh38]
Chr19:33792736 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1032G>A (p.Gln344=) single nucleotide variant Acute myeloid leukemia [RCV002132530] Chr19:33301383 [GRCh38]
Chr19:33792289 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.885G>C (p.Ala295=) single nucleotide variant Acute myeloid leukemia [RCV002141552] Chr19:33301530 [GRCh38]
Chr19:33792436 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.42G>A (p.Pro14=) single nucleotide variant Acute myeloid leukemia [RCV002157724] Chr19:33302373 [GRCh38]
Chr19:33793279 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.924G>A (p.Val308=) single nucleotide variant Acute myeloid leukemia [RCV002157407] Chr19:33301491 [GRCh38]
Chr19:33792397 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.297C>G (p.Gly99=) single nucleotide variant Acute myeloid leukemia [RCV002082706] Chr19:33302118 [GRCh38]
Chr19:33793024 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.240C>T (p.Asp80=) single nucleotide variant Acute myeloid leukemia [RCV002162892] Chr19:33302175 [GRCh38]
Chr19:33793081 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.450C>A (p.Val150=) single nucleotide variant Acute myeloid leukemia [RCV002171014] Chr19:33301965 [GRCh38]
Chr19:33792871 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.336C>T (p.Pro112=) single nucleotide variant Acute myeloid leukemia [RCV002168762] Chr19:33302079 [GRCh38]
Chr19:33792985 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.804C>T (p.Gly268=) single nucleotide variant Acute myeloid leukemia [RCV002177515] Chr19:33301611 [GRCh38]
Chr19:33792517 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.811G>C (p.Ala271Pro) single nucleotide variant Acute myeloid leukemia [RCV002184519] Chr19:33301604 [GRCh38]
Chr19:33792510 [GRCh37]
Chr19:19q13.11		 benign
NM_004364.5(CEBPA):c.87C>G (p.Ala29=) single nucleotide variant Acute myeloid leukemia [RCV002085378] Chr19:33302328 [GRCh38]
Chr19:33793234 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.333G>A (p.Ala111=) single nucleotide variant Acute myeloid leukemia [RCV002086352] Chr19:33302082 [GRCh38]
Chr19:33792988 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.216C>T (p.Ala72=) single nucleotide variant Acute myeloid leukemia [RCV002086392] Chr19:33302199 [GRCh38]
Chr19:33793105 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.306C>T (p.Gly102=) single nucleotide variant Acute myeloid leukemia [RCV002192012] Chr19:33302109 [GRCh38]
Chr19:33793015 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.147G>A (p.Pro49=) single nucleotide variant Acute myeloid leukemia [RCV002198356] Chr19:33302268 [GRCh38]
Chr19:33793174 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.399C>T (p.Cys133=) single nucleotide variant Acute myeloid leukemia [RCV002102660] Chr19:33302016 [GRCh38]
Chr19:33792922 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.507A>G (p.Glu169=) single nucleotide variant Acute myeloid leukemia [RCV002208550] Chr19:33301908 [GRCh38]
Chr19:33792814 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.660G>A (p.Leu220=) single nucleotide variant Acute myeloid leukemia [RCV002134451] Chr19:33301755 [GRCh38]
Chr19:33792661 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.531C>T (p.Gly177=) single nucleotide variant Acute myeloid leukemia [RCV002143811] Chr19:33301884 [GRCh38]
Chr19:33792790 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.213C>T (p.Ala71=) single nucleotide variant Acute myeloid leukemia [RCV002149196] Chr19:33302202 [GRCh38]
Chr19:33793108 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.288C>T (p.Gly96=) single nucleotide variant Acute myeloid leukemia [RCV002169126] Chr19:33302127 [GRCh38]
Chr19:33793033 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.729C>A (p.Ala243=) single nucleotide variant Acute myeloid leukemia [RCV002208132] Chr19:33301686 [GRCh38]
Chr19:33792592 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.378G>T (p.Gly126=) single nucleotide variant Acute myeloid leukemia [RCV002096413]|CEBPA-related condition [RCV003951055] Chr19:33302037 [GRCh38]
Chr19:33792943 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.450C>T (p.Val150=) single nucleotide variant Acute myeloid leukemia [RCV002122115] Chr19:33301965 [GRCh38]
Chr19:33792871 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.970C>T (p.Leu324=) single nucleotide variant Acute myeloid leukemia [RCV002149603] Chr19:33301445 [GRCh38]
Chr19:33792351 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.441C>T (p.Tyr147=) single nucleotide variant Acute myeloid leukemia [RCV002161401] Chr19:33301974 [GRCh38]
Chr19:33792880 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.597G>T (p.Ala199=) single nucleotide variant Acute myeloid leukemia [RCV002161976] Chr19:33301818 [GRCh38]
Chr19:33792724 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.645G>A (p.Gln215=) single nucleotide variant Acute myeloid leukemia [RCV002169420] Chr19:33301770 [GRCh38]
Chr19:33792676 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.420C>T (p.Asp140=) single nucleotide variant Acute myeloid leukemia [RCV002084108] Chr19:33301995 [GRCh38]
Chr19:33792901 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.858G>A (p.Arg286=) single nucleotide variant Acute myeloid leukemia [RCV002090793] Chr19:33301557 [GRCh38]
Chr19:33792463 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.384G>C (p.Pro128=) single nucleotide variant Acute myeloid leukemia [RCV002214846] Chr19:33302031 [GRCh38]
Chr19:33792937 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.648C>A (p.Thr216=) single nucleotide variant Acute myeloid leukemia [RCV002138964] Chr19:33301767 [GRCh38]
Chr19:33792673 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg) single nucleotide variant Acute myeloid leukemia [RCV003633606]|Hereditary cancer-predisposing syndrome [RCV002258641] Chr19:33302152 [GRCh38]
Chr19:33793058 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala) single nucleotide variant Acute myeloid leukemia [RCV003774787]|Hereditary cancer-predisposing syndrome [RCV002258644] Chr19:33302050 [GRCh38]
Chr19:33792956 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.949C>T (p.Leu317=) single nucleotide variant Acute myeloid leukemia [RCV003119992] Chr19:33301466 [GRCh38]
Chr19:33792372 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.337G>C (p.Ala113Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258642] Chr19:33302078 [GRCh38]
Chr19:33792984 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.344_345del (p.Pro115fs) deletion Hereditary cancer-predisposing syndrome [RCV002255990] Chr19:33302070..33302071 [GRCh38]
Chr19:33792976..33792977 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.437T>A (p.Leu146Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257355] Chr19:33301978 [GRCh38]
Chr19:33792884 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.350G>C (p.Gly117Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259261] Chr19:33302065 [GRCh38]
Chr19:33792971 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.936G>A (p.Gln312=) single nucleotide variant Acute myeloid leukemia [RCV002277720] Chr19:33301479 [GRCh38]
Chr19:33792385 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.*31G>C single nucleotide variant Acute myeloid leukemia [RCV002277744] Chr19:33301307 [GRCh38]
Chr19:33792213 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.209del (p.Pro70fs) deletion Acute myeloid leukemia [RCV002272627] Chr19:33302206 [GRCh38]
Chr19:33793112 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val) single nucleotide variant Acute myeloid leukemia [RCV002277739] Chr19:33302101 [GRCh38]
Chr19:33793007 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.*5C>T single nucleotide variant Acute myeloid leukemia [RCV002277740] Chr19:33301333 [GRCh38]
Chr19:33792239 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.292del (p.Thr98fs) deletion Acute myeloid leukemia [RCV002282592] Chr19:33302123 [GRCh38]
Chr19:33793029 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) duplication Acute myeloid leukemia [RCV002272730] Chr19:33301469..33301470 [GRCh38]
Chr19:33792375..33792376 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.*86C>T single nucleotide variant Acute myeloid leukemia [RCV002277741] Chr19:33301252 [GRCh38]
Chr19:33792158 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del) deletion Acute myeloid leukemia [RCV002292239] Chr19:33301367..33301369 [GRCh38]
Chr19:33792273..33792275 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs) deletion Acute myeloid leukemia [RCV002282598] Chr19:33302232..33302235 [GRCh38]
Chr19:33793138..33793141 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.*6G>A single nucleotide variant Acute myeloid leukemia [RCV002277745] Chr19:33301332 [GRCh38]
Chr19:33792238 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.334_336del (p.Pro112del) deletion Acute myeloid leukemia [RCV002282593] Chr19:33302079..33302081 [GRCh38]
Chr19:33792985..33792987 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.946_947insGGA (p.Glu316delinsGlyLys) insertion Acute myeloid leukemia [RCV002282597] Chr19:33301468..33301469 [GRCh38]
Chr19:33792374..33792375 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs) deletion Acute myeloid leukemia [RCV002282600] Chr19:33302231..33302241 [GRCh38]
Chr19:33793137..33793147 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile) single nucleotide variant Acute myeloid leukemia [RCV002277736] Chr19:33301459 [GRCh38]
Chr19:33792365 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.926_932delinsT (p.Glu309_Gln311delinsVal) indel Acute myeloid leukemia [RCV002282599] Chr19:33301483..33301489 [GRCh38]
Chr19:33792389..33792395 [GRCh37]
Chr19:19q13.11		 likely pathogenic
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu) single nucleotide variant Acute myeloid leukemia [RCV002297628] Chr19:33301735 [GRCh38]
Chr19:33792641 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser) single nucleotide variant Acute myeloid leukemia [RCV002297605] Chr19:33301718 [GRCh38]
Chr19:33792624 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys) single nucleotide variant Acute myeloid leukemia [RCV003633670]|not provided [RCV002474222] Chr19:33302021 [GRCh38]
Chr19:33792927 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val) single nucleotide variant Acute myeloid leukemia [RCV002304098] Chr19:33301672 [GRCh38]
Chr19:33792578 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys) single nucleotide variant Acute myeloid leukemia [RCV002296274] Chr19:33301985 [GRCh38]
Chr19:33792891 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg) single nucleotide variant Acute myeloid leukemia [RCV002304952] Chr19:33301627 [GRCh38]
Chr19:33792533 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser) single nucleotide variant Acute myeloid leukemia [RCV002303642] Chr19:33302021 [GRCh38]
Chr19:33792927 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr) single nucleotide variant Acute myeloid leukemia [RCV002305152] Chr19:33301903 [GRCh38]
Chr19:33792809 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg) single nucleotide variant Acute myeloid leukemia [RCV002300131] Chr19:33302220 [GRCh38]
Chr19:33793126 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr) single nucleotide variant Acute myeloid leukemia [RCV002299802] Chr19:33301762 [GRCh38]
Chr19:33792668 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys) single nucleotide variant Acute myeloid leukemia [RCV002295075] Chr19:33302246 [GRCh38]
Chr19:33793152 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.706C>A (p.His236Asn) single nucleotide variant Acute myeloid leukemia [RCV002298138] Chr19:33301709 [GRCh38]
Chr19:33792615 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala) single nucleotide variant Acute myeloid leukemia [RCV002300153] Chr19:33301396 [GRCh38]
Chr19:33792302 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val) single nucleotide variant Acute myeloid leukemia [RCV002295975]|Inborn genetic diseases [RCV003097914] Chr19:33302198 [GRCh38]
Chr19:33793104 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val) single nucleotide variant Acute myeloid leukemia [RCV002295117] Chr19:33301603 [GRCh38]
Chr19:33792509 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val) single nucleotide variant Acute myeloid leukemia [RCV002730593] Chr19:33302389 [GRCh38]
Chr19:33793295 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr) single nucleotide variant Acute myeloid leukemia [RCV003074558] Chr19:33301640 [GRCh38]
Chr19:33792546 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.90C>T (p.Ala30=) single nucleotide variant Acute myeloid leukemia [RCV003074562] Chr19:33302325 [GRCh38]
Chr19:33793231 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val) single nucleotide variant Acute myeloid leukemia [RCV002815735] Chr19:33302099 [GRCh38]
Chr19:33793005 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs) deletion Acute myeloid leukemia [RCV003076273] Chr19:33301336..33301346 [GRCh38]
Chr19:33792242..33792252 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.768G>C (p.Leu256=) single nucleotide variant Acute myeloid leukemia [RCV003076980] Chr19:33301647 [GRCh38]
Chr19:33792553 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu) single nucleotide variant Acute myeloid leukemia [RCV003074262] Chr19:33302269 [GRCh38]
Chr19:33793175 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu) single nucleotide variant Acute myeloid leukemia [RCV003034824] Chr19:33302322 [GRCh38]
Chr19:33793228 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg) single nucleotide variant Acute myeloid leukemia [RCV003095767] Chr19:33302255 [GRCh38]
Chr19:33793161 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val) single nucleotide variant Acute myeloid leukemia [RCV002948297] Chr19:33301954 [GRCh38]
Chr19:33792860 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr) single nucleotide variant Acute myeloid leukemia [RCV002908098] Chr19:33302017 [GRCh38]
Chr19:33792923 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys) single nucleotide variant Acute myeloid leukemia [RCV002837726] Chr19:33301418 [GRCh38]
Chr19:33792324 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.594C>G (p.Pro198=) single nucleotide variant Acute myeloid leukemia [RCV002967555] Chr19:33301821 [GRCh38]
Chr19:33792727 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly) single nucleotide variant Acute myeloid leukemia [RCV002816136] Chr19:33301571 [GRCh38]
Chr19:33792477 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.927G>A (p.Glu309=) single nucleotide variant Acute myeloid leukemia [RCV002755136] Chr19:33301488 [GRCh38]
Chr19:33792394 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro) single nucleotide variant Acute myeloid leukemia [RCV002996018]|not provided [RCV003156397] Chr19:33301897 [GRCh38]
Chr19:33792803 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg) single nucleotide variant Acute myeloid leukemia [RCV002623175] Chr19:33301691 [GRCh38]
Chr19:33792597 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.174C>A (p.His58Gln) single nucleotide variant Acute myeloid leukemia [RCV003002618] Chr19:33302241 [GRCh38]
Chr19:33793147 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser) single nucleotide variant Acute myeloid leukemia [RCV003081733] Chr19:33301352 [GRCh38]
Chr19:33792258 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.636C>T (p.His212=) single nucleotide variant Acute myeloid leukemia [RCV002637391] Chr19:33301779 [GRCh38]
Chr19:33792685 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.63C>T (p.Ser21=) single nucleotide variant Acute myeloid leukemia [RCV002953833] Chr19:33302352 [GRCh38]
Chr19:33793258 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.327G>A (p.Pro109=) single nucleotide variant Acute myeloid leukemia [RCV002927181] Chr19:33302088 [GRCh38]
Chr19:33792994 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln) single nucleotide variant Acute myeloid leukemia [RCV002740192] Chr19:33301376 [GRCh38]
Chr19:33792282 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.711C>T (p.Pro237=) single nucleotide variant Acute myeloid leukemia [RCV002886014] Chr19:33301704 [GRCh38]
Chr19:33792610 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter) single nucleotide variant Acute myeloid leukemia [RCV002658695] Chr19:33301344 [GRCh38]
Chr19:33792250 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.999C>G (p.Arg333=) single nucleotide variant Acute myeloid leukemia [RCV002923887] Chr19:33301416 [GRCh38]
Chr19:33792322 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val) single nucleotide variant Acute myeloid leukemia [RCV002659482] Chr19:33302026 [GRCh38]
Chr19:33792932 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.417G>A (p.Leu139=) single nucleotide variant Acute myeloid leukemia [RCV002619994] Chr19:33301998 [GRCh38]
Chr19:33792904 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg) single nucleotide variant Acute myeloid leukemia [RCV002867293] Chr19:33302299 [GRCh38]
Chr19:33793205 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile) single nucleotide variant Acute myeloid leukemia [RCV002591567] Chr19:33301761 [GRCh38]
Chr19:33792667 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1059C>T (p.Ala353=) single nucleotide variant Acute myeloid leukemia [RCV003078303] Chr19:33301356 [GRCh38]
Chr19:33792262 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.19T>C (p.Tyr7His) single nucleotide variant Inborn genetic diseases [RCV002924461] Chr19:33302396 [GRCh38]
Chr19:33793302 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg) single nucleotide variant Acute myeloid leukemia [RCV002885842] Chr19:33302108 [GRCh38]
Chr19:33793014 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.546G>A (p.Gln182=) single nucleotide variant Acute myeloid leukemia [RCV003019701] Chr19:33301869 [GRCh38]
Chr19:33792775 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.570G>T (p.Ser190=) single nucleotide variant Acute myeloid leukemia [RCV002592257] Chr19:33301845 [GRCh38]
Chr19:33792751 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.298G>C (p.Gly100Arg) single nucleotide variant Inborn genetic diseases [RCV002884681] Chr19:33302117 [GRCh38]
Chr19:33793023 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.282C>T (p.Ala94=) single nucleotide variant Acute myeloid leukemia [RCV003019524] Chr19:33302133 [GRCh38]
Chr19:33793039 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg) single nucleotide variant Acute myeloid leukemia [RCV003077530] Chr19:33301897 [GRCh38]
Chr19:33792803 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg) single nucleotide variant Acute myeloid leukemia [RCV002690934] Chr19:33301371 [GRCh38]
Chr19:33792277 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.99T>C (p.Phe33=) single nucleotide variant Acute myeloid leukemia [RCV002870885] Chr19:33302316 [GRCh38]
Chr19:33793222 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.372G>T (p.Ala124=) single nucleotide variant Acute myeloid leukemia [RCV002923154]|CEBPA-related condition [RCV003963446] Chr19:33302043 [GRCh38]
Chr19:33792949 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.912G>A (p.Lys304=) single nucleotide variant Acute myeloid leukemia [RCV002639632] Chr19:33301503 [GRCh38]
Chr19:33792409 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg) single nucleotide variant Acute myeloid leukemia [RCV002619004] Chr19:33302352 [GRCh38]
Chr19:33793258 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.906G>A (p.Lys302=) single nucleotide variant Acute myeloid leukemia [RCV002844048] Chr19:33301509 [GRCh38]
Chr19:33792415 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.678G>T (p.Thr226=) single nucleotide variant Acute myeloid leukemia [RCV002620301] Chr19:33301737 [GRCh38]
Chr19:33792643 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.951G>C (p.Leu317=) single nucleotide variant Acute myeloid leukemia [RCV002895003] Chr19:33301464 [GRCh38]
Chr19:33792370 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.714G>T (p.Ala238=) single nucleotide variant Acute myeloid leukemia [RCV002576417] Chr19:33301701 [GRCh38]
Chr19:33792607 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser) single nucleotide variant Acute myeloid leukemia [RCV003043497] Chr19:33302288 [GRCh38]
Chr19:33793194 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.33G>A (p.Pro11=) single nucleotide variant Acute myeloid leukemia [RCV003084947] Chr19:33302382 [GRCh38]
Chr19:33793288 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln) single nucleotide variant Acute myeloid leukemia [RCV003025278] Chr19:33302189 [GRCh38]
Chr19:33793095 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.572A>T (p.His191Leu) single nucleotide variant Acute myeloid leukemia [RCV003082515] Chr19:33301843 [GRCh38]
Chr19:33792749 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu) single nucleotide variant Acute myeloid leukemia [RCV003041821] Chr19:33301763 [GRCh38]
Chr19:33792669 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg) single nucleotide variant Acute myeloid leukemia [RCV002802151] Chr19:33301729 [GRCh38]
Chr19:33792635 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr) single nucleotide variant Acute myeloid leukemia [RCV002801274] Chr19:33301370 [GRCh38]
Chr19:33792276 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.354C>T (p.Ala118=) single nucleotide variant Acute myeloid leukemia [RCV003022936] Chr19:33302061 [GRCh38]
Chr19:33792967 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His) single nucleotide variant Acute myeloid leukemia [RCV003024946] Chr19:33301976 [GRCh38]
Chr19:33792882 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp) single nucleotide variant Acute myeloid leukemia [RCV002918078] Chr19:33301681 [GRCh38]
Chr19:33792587 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.612G>A (p.Pro204=) single nucleotide variant Acute myeloid leukemia [RCV002625233] Chr19:33301803 [GRCh38]
Chr19:33792709 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr) single nucleotide variant Acute myeloid leukemia [RCV002917947] Chr19:33302297 [GRCh38]
Chr19:33793203 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.435C>A (p.Pro145=) single nucleotide variant Acute myeloid leukemia [RCV002829953] Chr19:33301980 [GRCh38]
Chr19:33792886 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.380C>A (p.Pro127His) single nucleotide variant Acute myeloid leukemia [RCV003007606] Chr19:33302035 [GRCh38]
Chr19:33792941 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.102C>A (p.Pro34=) single nucleotide variant Acute myeloid leukemia [RCV002932694] Chr19:33302313 [GRCh38]
Chr19:33793219 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro) single nucleotide variant Acute myeloid leukemia [RCV003024019] Chr19:33302144 [GRCh38]
Chr19:33793050 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.978G>A (p.Lys326=) single nucleotide variant Acute myeloid leukemia [RCV003058682] Chr19:33301437 [GRCh38]
Chr19:33792343 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del) deletion Acute myeloid leukemia [RCV003005857] Chr19:33301821..33301847 [GRCh38]
Chr19:33792727..33792753 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu) single nucleotide variant Acute myeloid leukemia [RCV003005056] Chr19:33302281 [GRCh38]
Chr19:33793187 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter) single nucleotide variant Acute myeloid leukemia [RCV002834594] Chr19:33302091 [GRCh38]
Chr19:33792997 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met) single nucleotide variant Acute myeloid leukemia [RCV002651169] Chr19:33301799 [GRCh38]
Chr19:33792705 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln) single nucleotide variant Acute myeloid leukemia [RCV002900449] Chr19:33301928 [GRCh38]
Chr19:33792834 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.635A>C (p.His212Pro) single nucleotide variant Acute myeloid leukemia [RCV003088421] Chr19:33301780 [GRCh38]
Chr19:33792686 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr) single nucleotide variant Acute myeloid leukemia [RCV002938883] Chr19:33301637 [GRCh38]
Chr19:33792543 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.768G>T (p.Leu256=) single nucleotide variant Acute myeloid leukemia [RCV002791750] Chr19:33301647 [GRCh38]
Chr19:33792553 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.405C>T (p.Ala135=) single nucleotide variant Acute myeloid leukemia [RCV002597996] Chr19:33302010 [GRCh38]
Chr19:33792916 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu) single nucleotide variant Acute myeloid leukemia [RCV002599032] Chr19:33301804 [GRCh38]
Chr19:33792710 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.345C>G (p.Pro115=) single nucleotide variant Acute myeloid leukemia [RCV003065206] Chr19:33302070 [GRCh38]
Chr19:33792976 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.75G>A (p.Ala25=) single nucleotide variant Acute myeloid leukemia [RCV002628433] Chr19:33302340 [GRCh38]
Chr19:33793246 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp) single nucleotide variant Acute myeloid leukemia [RCV002791972] Chr19:33301600 [GRCh38]
Chr19:33792506 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1047C>T (p.Ser349=) single nucleotide variant Acute myeloid leukemia [RCV003011073] Chr19:33301368 [GRCh38]
Chr19:33792274 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.261G>A (p.Gln87=) single nucleotide variant Acute myeloid leukemia [RCV002966331] Chr19:33302154 [GRCh38]
Chr19:33793060 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.123G>C (p.Gln41His) single nucleotide variant Acute myeloid leukemia [RCV003089820] Chr19:33302292 [GRCh38]
Chr19:33793198 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.816C>T (p.Gly272=) single nucleotide variant Acute myeloid leukemia [RCV003048396] Chr19:33301599 [GRCh38]
Chr19:33792505 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr) single nucleotide variant Acute myeloid leukemia [RCV003062453] Chr19:33301697 [GRCh38]
Chr19:33792603 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg) single nucleotide variant Acute myeloid leukemia [RCV002578376] Chr19:33301870 [GRCh38]
Chr19:33792776 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp) single nucleotide variant Acute myeloid leukemia [RCV003048099] Chr19:33302179 [GRCh38]
Chr19:33793085 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys) indel Acute myeloid leukemia [RCV002629425] Chr19:33302246..33302247 [GRCh38]
Chr19:33793152..33793153 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.693C>T (p.Pro231=) single nucleotide variant Acute myeloid leukemia [RCV003089888] Chr19:33301722 [GRCh38]
Chr19:33792628 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg) single nucleotide variant Acute myeloid leukemia [RCV002649645] Chr19:33302338 [GRCh38]
Chr19:33793244 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly) single nucleotide variant Acute myeloid leukemia [RCV002630780] Chr19:33302095 [GRCh38]
Chr19:33793001 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del) microsatellite Acute myeloid leukemia [RCV002877045] Chr19:33301535..33301537 [GRCh38]
Chr19:33792441..33792443 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.504T>C (p.Asp168=) single nucleotide variant Acute myeloid leukemia [RCV002938532] Chr19:33301911 [GRCh38]
Chr19:33792817 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.336C>G (p.Pro112=) single nucleotide variant Acute myeloid leukemia [RCV002577392] Chr19:33302079 [GRCh38]
Chr19:33792985 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu) single nucleotide variant Acute myeloid leukemia [RCV003010115] Chr19:33302208 [GRCh38]
Chr19:33793114 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.489G>A (p.Glu163=) single nucleotide variant Acute myeloid leukemia [RCV003047968] Chr19:33301926 [GRCh38]
Chr19:33792832 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr) indel Acute myeloid leukemia [RCV003010024] Chr19:33302282..33302283 [GRCh38]
Chr19:33793188..33793189 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.982G>A (p.Val328Met) single nucleotide variant Acute myeloid leukemia [RCV002647996] Chr19:33301433 [GRCh38]
Chr19:33792339 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg) single nucleotide variant Acute myeloid leukemia [RCV002922936] Chr19:33302347 [GRCh38]
Chr19:33793253 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.423C>T (p.Gly141=) single nucleotide variant Acute myeloid leukemia [RCV002856604] Chr19:33301992 [GRCh38]
Chr19:33792898 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln) single nucleotide variant Acute myeloid leukemia [RCV002833663] Chr19:33301834 [GRCh38]
Chr19:33792740 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu) single nucleotide variant Acute myeloid leukemia [RCV002603574] Chr19:33302071 [GRCh38]
Chr19:33792977 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr) single nucleotide variant Acute myeloid leukemia [RCV002633606] Chr19:33301838 [GRCh38]
Chr19:33792744 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser) single nucleotide variant Acute myeloid leukemia [RCV002942920] Chr19:33302303 [GRCh38]
Chr19:33793209 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis) insertion Acute myeloid leukemia [RCV002721793] Chr19:33301835..33301836 [GRCh38]
Chr19:33792741..33792742 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.612G>T (p.Pro204=) single nucleotide variant Acute myeloid leukemia [RCV002588633] Chr19:33301803 [GRCh38]
Chr19:33792709 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln) single nucleotide variant Acute myeloid leukemia [RCV003072525] Chr19:33302383 [GRCh38]
Chr19:33793289 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.588G>A (p.Pro196=) single nucleotide variant Acute myeloid leukemia [RCV002634278] Chr19:33301827 [GRCh38]
Chr19:33792733 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.864G>A (p.Arg288=) single nucleotide variant Acute myeloid leukemia [RCV002586914] Chr19:33301551 [GRCh38]
Chr19:33792457 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys) single nucleotide variant Acute myeloid leukemia [RCV003052550] Chr19:33302303 [GRCh38]
Chr19:33793209 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.746C>G (p.Pro249Arg) single nucleotide variant Inborn genetic diseases [RCV002813892] Chr19:33301669 [GRCh38]
Chr19:33792575 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser) single nucleotide variant Acute myeloid leukemia [RCV003092849] Chr19:33301886 [GRCh38]
Chr19:33792792 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.778C>A (p.His260Asn) single nucleotide variant Acute myeloid leukemia [RCV002654439] Chr19:33301637 [GRCh38]
Chr19:33792543 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met) single nucleotide variant Acute myeloid leukemia [RCV003067807] Chr19:33301943 [GRCh38]
Chr19:33792849 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.675C>T (p.Pro225=) single nucleotide variant Acute myeloid leukemia [RCV003092877] Chr19:33301740 [GRCh38]
Chr19:33792646 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.633G>A (p.Ala211=) single nucleotide variant Acute myeloid leukemia [RCV003067127] Chr19:33301782 [GRCh38]
Chr19:33792688 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1050G>A (p.Leu350=) single nucleotide variant Acute myeloid leukemia [RCV002585777] Chr19:33301365 [GRCh38]
Chr19:33792271 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.711C>A (p.Pro237=) single nucleotide variant Acute myeloid leukemia [RCV003067123] Chr19:33301704 [GRCh38]
Chr19:33792610 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.114C>T (p.Gly38=) single nucleotide variant Acute myeloid leukemia [RCV003093248] Chr19:33302301 [GRCh38]
Chr19:33793207 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.414C>T (p.Tyr138=) single nucleotide variant Acute myeloid leukemia [RCV002612390] Chr19:33302001 [GRCh38]
Chr19:33792907 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.279G>T (p.Ala93=) single nucleotide variant Acute myeloid leukemia [RCV002604192] Chr19:33302136 [GRCh38]
Chr19:33793042 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp) single nucleotide variant Acute myeloid leukemia [RCV003092395] Chr19:33302026 [GRCh38]
Chr19:33792932 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu) single nucleotide variant Acute myeloid leukemia [RCV003144792] Chr19:33301945 [GRCh38]
Chr19:33792851 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.-1C>A single nucleotide variant not provided [RCV003159367] Chr19:33302415 [GRCh38]
Chr19:33793321 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.205G>A (p.Asp69Asn) single nucleotide variant not provided [RCV003319068] Chr19:33302210 [GRCh38]
Chr19:33793116 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.689C>A (p.Thr230Lys) single nucleotide variant not provided [RCV003325904] Chr19:33301726 [GRCh38]
Chr19:33792632 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1015C>T (p.Arg339Trp) single nucleotide variant not provided [RCV003332769] Chr19:33301400 [GRCh38]
Chr19:33792306 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val) single nucleotide variant Acute myeloid leukemia [RCV003460387] Chr19:33301621 [GRCh38]
Chr19:33792527 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr) single nucleotide variant Acute myeloid leukemia [RCV003460390] Chr19:33302063 [GRCh38]
Chr19:33792969 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys) single nucleotide variant Acute myeloid leukemia [RCV003475647] Chr19:33301975 [GRCh38]
Chr19:33792881 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala) single nucleotide variant Acute myeloid leukemia [RCV003873886] Chr19:33301747 [GRCh38]
Chr19:33792653 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys) single nucleotide variant Acute myeloid leukemia [RCV003874792] Chr19:33301448 [GRCh38]
Chr19:33792354 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.582G>T (p.Pro194=) single nucleotide variant Acute myeloid leukemia [RCV003825263] Chr19:33301833 [GRCh38]
Chr19:33792739 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr) single nucleotide variant Acute myeloid leukemia [RCV003475648] Chr19:33301496 [GRCh38]
Chr19:33792402 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3 copy number gain not provided [RCV003485197] Chr19:32052961..34144873 [GRCh37]
Chr19:19q12-13.11		 uncertain significance
GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3 copy number gain not provided [RCV003485198] Chr19:33301640..34007202 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys) single nucleotide variant Acute myeloid leukemia [RCV003475652] Chr19:33301664 [GRCh38]
Chr19:33792570 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del) deletion Acute myeloid leukemia [RCV003460388] Chr19:33301892..33301957 [GRCh38]
Chr19:33792798..33792863 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val) single nucleotide variant Acute myeloid leukemia [RCV003475651] Chr19:33301696 [GRCh38]
Chr19:33792602 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser) single nucleotide variant Acute myeloid leukemia [RCV003475650] Chr19:33302215 [GRCh38]
Chr19:33793121 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.974G>T (p.Arg325Leu) single nucleotide variant not provided [RCV003443251] Chr19:33301441 [GRCh38]
Chr19:33792347 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.-1del deletion CEBPA-related condition [RCV003402909] Chr19:33302415 [GRCh38]
Chr19:33793321 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.-90C>T single nucleotide variant CEBPA-related condition [RCV003392935] Chr19:33302504 [GRCh38]
Chr19:33793410 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.231_233delinsGAA (p.Phe77_Leu78delinsLeuLys) indel not provided [RCV003415185] Chr19:33302182..33302184 [GRCh38]
Chr19:33793088..33793090 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg) single nucleotide variant Acute myeloid leukemia [RCV003518473] Chr19:33302359 [GRCh38]
Chr19:33793265 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.66C>T (p.Pro22=) single nucleotide variant Acute myeloid leukemia [RCV003518486] Chr19:33302349 [GRCh38]
Chr19:33793255 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.372G>A (p.Ala124=) single nucleotide variant Acute myeloid leukemia [RCV003518646] Chr19:33302043 [GRCh38]
Chr19:33792949 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.375C>A (p.His125Gln) single nucleotide variant Acute myeloid leukemia [RCV003518503] Chr19:33302040 [GRCh38]
Chr19:33792946 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.231C>T (p.Phe77=) single nucleotide variant Acute myeloid leukemia [RCV003518517] Chr19:33302184 [GRCh38]
Chr19:33793090 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del) microsatellite Acute myeloid leukemia [RCV003517742] Chr19:33302364..33302366 [GRCh38]
Chr19:33793270..33793272 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.339G>T (p.Ala113=) single nucleotide variant Acute myeloid leukemia [RCV003518259] Chr19:33302076 [GRCh38]
Chr19:33792982 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg) single nucleotide variant Acute myeloid leukemia [RCV003516733] Chr19:33301711 [GRCh38]
Chr19:33792617 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.192C>T (p.Ile64=) single nucleotide variant Acute myeloid leukemia [RCV003517796] Chr19:33302223 [GRCh38]
Chr19:33793129 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg) single nucleotide variant Acute myeloid leukemia [RCV003518540] Chr19:33301682 [GRCh38]
Chr19:33792588 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser) single nucleotide variant Acute myeloid leukemia [RCV003518387] Chr19:33302273 [GRCh38]
Chr19:33793179 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser) single nucleotide variant Acute myeloid leukemia [RCV003518392] Chr19:33301775 [GRCh38]
Chr19:33792681 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter) single nucleotide variant Acute myeloid leukemia [RCV003518095] Chr19:33301490 [GRCh38]
Chr19:33792396 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser) single nucleotide variant Acute myeloid leukemia [RCV003518443] Chr19:33302114 [GRCh38]
Chr19:33793020 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.669T>C (p.Gly223=) single nucleotide variant Acute myeloid leukemia [RCV003518447] Chr19:33301746 [GRCh38]
Chr19:33792652 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val) single nucleotide variant Acute myeloid leukemia [RCV003518619] Chr19:33301937 [GRCh38]
Chr19:33792843 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser) single nucleotide variant Acute myeloid leukemia [RCV003517039] Chr19:33302219 [GRCh38]
Chr19:33793125 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr) single nucleotide variant Acute myeloid leukemia [RCV003517052] Chr19:33301591 [GRCh38]
Chr19:33792497 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.756G>A (p.Ala252=) single nucleotide variant Acute myeloid leukemia [RCV003516630] Chr19:33301659 [GRCh38]
Chr19:33792565 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.300C>A (p.Gly100=) single nucleotide variant Acute myeloid leukemia [RCV003516780] Chr19:33302115 [GRCh38]
Chr19:33793021 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr) single nucleotide variant Acute myeloid leukemia [RCV003516982] Chr19:33301835 [GRCh38]
Chr19:33792741 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.891dup (p.Lys298fs) duplication Acute myeloid leukemia [RCV003517950] Chr19:33301523..33301524 [GRCh38]
Chr19:33792429..33792430 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.791G>A (p.Arg264His) single nucleotide variant Acute myeloid leukemia [RCV003517639] Chr19:33301624 [GRCh38]
Chr19:33792530 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=) single nucleotide variant Acute myeloid leukemia [RCV003517700] Chr19:33301380 [GRCh38]
Chr19:33792286 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu) single nucleotide variant Acute myeloid leukemia [RCV003517771] Chr19:33302374 [GRCh38]
Chr19:33793280 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln) single nucleotide variant Acute myeloid leukemia [RCV003517774] Chr19:33301469 [GRCh38]
Chr19:33792375 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.198C>T (p.Ala66=) single nucleotide variant Acute myeloid leukemia [RCV003516953] Chr19:33302217 [GRCh38]
Chr19:33793123 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu) single nucleotide variant Acute myeloid leukemia [RCV003516955] Chr19:33301750 [GRCh38]
Chr19:33792656 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.446G>A (p.Arg149His) single nucleotide variant Acute myeloid leukemia [RCV003876873] Chr19:33301969 [GRCh38]
Chr19:33792875 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.510C>G (p.Ala170=) single nucleotide variant Acute myeloid leukemia [RCV003516961] Chr19:33301905 [GRCh38]
Chr19:33792811 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu) single nucleotide variant Acute myeloid leukemia [RCV003516976] Chr19:33301549 [GRCh38]
Chr19:33792455 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=) single nucleotide variant Acute myeloid leukemia [RCV003517933] Chr19:33301404 [GRCh38]
Chr19:33792310 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala) single nucleotide variant Acute myeloid leukemia [RCV003825529] Chr19:33301600 [GRCh38]
Chr19:33792506 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.972G>C (p.Leu324=) single nucleotide variant Acute myeloid leukemia [RCV003876538] Chr19:33301443 [GRCh38]
Chr19:33792349 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val) single nucleotide variant Acute myeloid leukemia [RCV003634889] Chr19:33302203 [GRCh38]
Chr19:33793109 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly) single nucleotide variant Acute myeloid leukemia [RCV003634898] Chr19:33301715 [GRCh38]
Chr19:33792621 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp) single nucleotide variant Acute myeloid leukemia [RCV003634935] Chr19:33302116 [GRCh38]
Chr19:33793022 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.475G>A (p.Val159Met) single nucleotide variant Acute myeloid leukemia [RCV003518671] Chr19:33301940 [GRCh38]
Chr19:33792846 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.156G>T (p.Leu52=) single nucleotide variant Acute myeloid leukemia [RCV003635002] Chr19:33302259 [GRCh38]
Chr19:33793165 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter) single nucleotide variant Acute myeloid leukemia [RCV003634945] Chr19:33301872 [GRCh38]
Chr19:33792778 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg) single nucleotide variant Acute myeloid leukemia [RCV003634943] Chr19:33301717 [GRCh38]
Chr19:33792623 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu) single nucleotide variant Acute myeloid leukemia [RCV003633902] Chr19:33302044 [GRCh38]
Chr19:33792950 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys) single nucleotide variant Acute myeloid leukemia [RCV003635291] Chr19:33302371 [GRCh38]
Chr19:33793277 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg) single nucleotide variant Acute myeloid leukemia [RCV003633960] Chr19:33301804 [GRCh38]
Chr19:33792710 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro) single nucleotide variant Acute myeloid leukemia [RCV003635261] Chr19:33302012 [GRCh38]
Chr19:33792918 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.717C>A (p.Pro239=) single nucleotide variant Acute myeloid leukemia [RCV003633983] Chr19:33301698 [GRCh38]
Chr19:33792604 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp) single nucleotide variant Acute myeloid leukemia [RCV003635299] Chr19:33302148 [GRCh38]
Chr19:33793054 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn) single nucleotide variant Acute myeloid leukemia [RCV003634216] Chr19:33302353 [GRCh38]
Chr19:33793259 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr) single nucleotide variant Acute myeloid leukemia [RCV003634224] Chr19:33302054 [GRCh38]
Chr19:33792960 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp) single nucleotide variant Acute myeloid leukemia [RCV003633019] Chr19:33302244 [GRCh38]
Chr19:33793150 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp) single nucleotide variant Acute myeloid leukemia [RCV003633065] Chr19:33302187 [GRCh38]
Chr19:33793093 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr) single nucleotide variant Acute myeloid leukemia [RCV003634397] Chr19:33301907 [GRCh38]
Chr19:33792813 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.411C>T (p.Gly137=) single nucleotide variant Acute myeloid leukemia [RCV003634422] Chr19:33302004 [GRCh38]
Chr19:33792910 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala) single nucleotide variant Acute myeloid leukemia [RCV003633192] Chr19:33301718 [GRCh38]
Chr19:33792624 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.96C>A (p.Gly32=) single nucleotide variant Acute myeloid leukemia [RCV003634552] Chr19:33302319 [GRCh38]
Chr19:33793225 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu) single nucleotide variant Acute myeloid leukemia [RCV003633317] Chr19:33302053 [GRCh38]
Chr19:33792959 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr) single nucleotide variant Acute myeloid leukemia [RCV003633343] Chr19:33301588 [GRCh38]
Chr19:33792494 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser) single nucleotide variant Acute myeloid leukemia [RCV003634671] Chr19:33301607 [GRCh38]
Chr19:33792513 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.918C>G (p.Arg306=) single nucleotide variant Acute myeloid leukemia [RCV003634651] Chr19:33301497 [GRCh38]
Chr19:33792403 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln) single nucleotide variant Acute myeloid leukemia [RCV003635004] Chr19:33301490 [GRCh38]
Chr19:33792396 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.847A>C (p.Asn283His) single nucleotide variant Acute myeloid leukemia [RCV003633908] Chr19:33301568 [GRCh38]
Chr19:33792474 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn) single nucleotide variant Acute myeloid leukemia [RCV003634551] Chr19:33302145 [GRCh38]
Chr19:33793051 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.672C>G (p.His224Gln) single nucleotide variant Acute myeloid leukemia [RCV003634494] Chr19:33301743 [GRCh38]
Chr19:33792649 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1008C>T (p.Asp336=) single nucleotide variant Acute myeloid leukemia [RCV003518865] Chr19:33301407 [GRCh38]
Chr19:33792313 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val) single nucleotide variant Acute myeloid leukemia [RCV003633295] Chr19:33302305 [GRCh38]
Chr19:33793211 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val) single nucleotide variant Acute myeloid leukemia [RCV003633982] Chr19:33302137 [GRCh38]
Chr19:33793043 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe) indel Acute myeloid leukemia [RCV003851603] Chr19:33301807..33301808 [GRCh38]
Chr19:33792713..33792714 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg) single nucleotide variant Acute myeloid leukemia [RCV003634689] Chr19:33302039 [GRCh38]
Chr19:33792945 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.943C>T (p.Leu315=) single nucleotide variant Acute myeloid leukemia [RCV003634713] Chr19:33301472 [GRCh38]
Chr19:33792378 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.606C>T (p.Ala202=) single nucleotide variant Acute myeloid leukemia [RCV003634767] Chr19:33301809 [GRCh38]
Chr19:33792715 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser) single nucleotide variant Acute myeloid leukemia [RCV003632991] Chr19:33302069 [GRCh38]
Chr19:33792975 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.588G>C (p.Pro196=) single nucleotide variant Acute myeloid leukemia [RCV003633011] Chr19:33301827 [GRCh38]
Chr19:33792733 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.600C>G (p.His200Gln) single nucleotide variant Acute myeloid leukemia [RCV003518785] Chr19:33301815 [GRCh38]
Chr19:33792721 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer) indel Acute myeloid leukemia [RCV003518831] Chr19:33302138..33302139 [GRCh38]
Chr19:33793044..33793045 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.584A>C (p.His195Pro) single nucleotide variant Acute myeloid leukemia [RCV003635353] Chr19:33301831 [GRCh38]
Chr19:33792737 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr) single nucleotide variant Acute myeloid leukemia [RCV003634302] Chr19:33301345 [GRCh38]
Chr19:33792251 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter) single nucleotide variant Acute myeloid leukemia [RCV003634321] Chr19:33301415 [GRCh38]
Chr19:33792321 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=) single nucleotide variant Acute myeloid leukemia [RCV003633049] Chr19:33301380 [GRCh38]
Chr19:33792286 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter) single nucleotide variant Acute myeloid leukemia [RCV003634500] Chr19:33301481 [GRCh38]
Chr19:33792387 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp) single nucleotide variant Acute myeloid leukemia [RCV003816849] Chr19:33302020 [GRCh38]
Chr19:33792926 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.736C>T (p.Leu246=) single nucleotide variant Acute myeloid leukemia [RCV003633477] Chr19:33301679 [GRCh38]
Chr19:33792585 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser) single nucleotide variant Acute myeloid leukemia [RCV003635103] Chr19:33301499 [GRCh38]
Chr19:33792405 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.312C>T (p.Gly104=) single nucleotide variant Acute myeloid leukemia [RCV003634220] Chr19:33302103 [GRCh38]
Chr19:33793009 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=) single nucleotide variant Acute myeloid leukemia [RCV003634963] Chr19:33301341 [GRCh38]
Chr19:33792247 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter) single nucleotide variant Acute myeloid leukemia [RCV003634969] Chr19:33301502 [GRCh38]
Chr19:33792408 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg) single nucleotide variant Acute myeloid leukemia [RCV003635005] Chr19:33301571 [GRCh38]
Chr19:33792477 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn) single nucleotide variant Acute myeloid leukemia [RCV003633806] Chr19:33301913 [GRCh38]
Chr19:33792819 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly) single nucleotide variant Acute myeloid leukemia [RCV003635371] Chr19:33301702 [GRCh38]
Chr19:33792608 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp) single nucleotide variant Acute myeloid leukemia [RCV003633881] Chr19:33301574 [GRCh38]
Chr19:33792480 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.591G>T (p.Pro197=) single nucleotide variant Acute myeloid leukemia [RCV003838132] Chr19:33301824 [GRCh38]
Chr19:33792730 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.179dup (p.Ser61fs) duplication Acute myeloid leukemia [RCV003635266] Chr19:33302235..33302236 [GRCh38]
Chr19:33793141..33793142 [GRCh37]
Chr19:19q13.11		 pathogenic
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val) single nucleotide variant Acute myeloid leukemia [RCV003634107] Chr19:33301793 [GRCh38]
Chr19:33792699 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.438G>C (p.Leu146=) single nucleotide variant Acute myeloid leukemia [RCV003633185] Chr19:33301977 [GRCh38]
Chr19:33792883 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.831G>A (p.Ser277=) single nucleotide variant Acute myeloid leukemia [RCV003634270] Chr19:33301584 [GRCh38]
Chr19:33792490 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser) single nucleotide variant Acute myeloid leukemia [RCV003633205] Chr19:33301346 [GRCh38]
Chr19:33792252 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg) single nucleotide variant Acute myeloid leukemia [RCV003635404] Chr19:33302269 [GRCh38]
Chr19:33793175 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp) single nucleotide variant Acute myeloid leukemia [RCV003634603] Chr19:33301926 [GRCh38]
Chr19:33792832 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu) single nucleotide variant Acute myeloid leukemia [RCV003860012] Chr19:33302407 [GRCh38]
Chr19:33793313 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.205G>C (p.Asp69His) single nucleotide variant Acute myeloid leukemia [RCV003853008] Chr19:33302210 [GRCh38]
Chr19:33793116 [GRCh37]
Chr19:19q13.11		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu) single nucleotide variant Acute myeloid leukemia [RCV003842399] Chr19:33301864 [GRCh38]
Chr19:33792770 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val) single nucleotide variant Acute myeloid leukemia [RCV003860192] Chr19:33302044 [GRCh38]
Chr19:33792950 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.384G>T (p.Pro128=) single nucleotide variant CEBPA-related condition [RCV003941635] Chr19:33302031 [GRCh38]
Chr19:33792937 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys) single nucleotide variant Acute myeloid leukemia [RCV003853699] Chr19:33301566 [GRCh38]
Chr19:33792472 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu) single nucleotide variant Acute myeloid leukemia [RCV003862471] Chr19:33301598 [GRCh38]
Chr19:33792504 [GRCh37]
Chr19:19q13.11		 uncertain significance
NM_004364.5(CEBPA):c.378G>C (p.Gly126=) single nucleotide variant CEBPA-related condition [RCV003977034] Chr19:33302037 [GRCh38]
Chr19:33792943 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.369A>G (p.Gly123=) single nucleotide variant CEBPA-related condition [RCV003969870] Chr19:33302046 [GRCh38]
Chr19:33792952 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.333G>C (p.Ala111=) single nucleotide variant CEBPA-related condition [RCV003904369] Chr19:33302082 [GRCh38]
Chr19:33792988 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.405C>G (p.Ala135=) single nucleotide variant CEBPA-related condition [RCV003983569] Chr19:33302010 [GRCh38]
Chr19:33792916 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.387C>T (p.Pro129=) single nucleotide variant CEBPA-related condition [RCV003962229] Chr19:33302028 [GRCh38]
Chr19:33792934 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.-69C>A single nucleotide variant CEBPA-related condition [RCV003897252] Chr19:33302483 [GRCh38]
Chr19:33793389 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.735C>G (p.Gly245=) single nucleotide variant CEBPA-related condition [RCV003982438] Chr19:33301680 [GRCh38]
Chr19:33792586 [GRCh37]
Chr19:19q13.11		 likely benign
NM_004364.5(CEBPA):c.369A>C (p.Gly123=) single nucleotide variant CEBPA-related condition [RCV003899556] Chr19:33302046 [GRCh38]
Chr19:33792952 [GRCh37]
Chr19:19q13.11		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18818206
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI18451139
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)15685193
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)20486779
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)20486779

Predicted Target Of
Summary Value
Count of predictions:801
Count of miRNA genes:557
Interacting mature miRNAs:608
Transcripts:ENST00000498907
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH64933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,791,051 - 33,791,170UniSTSGRCh37
Build 361938,482,891 - 38,483,010RGDNCBI36
Celera1930,484,616 - 30,484,735RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,291,887 - 30,292,006UniSTS
GeneMap99-GB4 RH Map19196.49UniSTS
SHGC-35476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,791,996 - 33,792,196UniSTSGRCh37
Build 361938,483,836 - 38,484,036RGDNCBI36
Celera1930,485,561 - 30,485,761RGD
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.11UniSTS
CEBPA_537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,790,803 - 33,791,692UniSTSGRCh37
Build 361938,482,643 - 38,483,532RGDNCBI36
Celera1930,484,368 - 30,485,257RGD
HuRef1930,291,639 - 30,292,528UniSTS
STS-X87248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,791,921 - 33,792,075UniSTSGRCh37
Build 361938,483,761 - 38,483,915RGDNCBI36
Celera1930,485,486 - 30,485,640RGD
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.11UniSTS
GeneMap99-GB4 RH Map19193.75UniSTS
A002S24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,790,884 - 33,791,116UniSTSGRCh37
Build 361938,482,724 - 38,482,956RGDNCBI36
Celera1930,484,449 - 30,484,681RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,291,720 - 30,291,952UniSTS
GeneMap99-GB4 RH Map19195.06UniSTS
NCBI RH Map19329.1UniSTS
WI-16546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,791,214 - 33,791,363UniSTSGRCh37
Build 361938,483,054 - 38,483,203RGDNCBI36
Celera1930,484,779 - 30,484,928RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,292,050 - 30,292,199UniSTS
GeneMap99-GB4 RH Map19193.81UniSTS
Whitehead-RH Map19258.8UniSTS
NCBI RH Map19330.2UniSTS
STS-T52003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,790,953 - 33,791,094UniSTSGRCh37
Build 361938,482,793 - 38,482,934RGDNCBI36
Celera1930,484,518 - 30,484,659RGD
Cytogenetic Map19q13.1UniSTS
HuRef1930,291,789 - 30,291,930UniSTS
GeneMap99-GB4 RH Map19197.71UniSTS
Cebpa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,792,659 - 33,793,310UniSTSGRCh37
GRCh371933,792,316 - 33,792,504UniSTSGRCh37
Celera1930,486,224 - 30,486,875UniSTS
Celera1930,485,881 - 30,486,069UniSTS
UniSTS:481683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,792,194 - 33,793,320UniSTSGRCh37
Celera1930,485,759 - 30,486,885UniSTS
UniSTS:485918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,791,927 - 33,793,348UniSTSGRCh37
Celera1930,485,492 - 30,486,913UniSTS
HuRef1930,292,763 - 30,294,171UniSTS
Cebpa  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371933,792,659 - 33,793,310UniSTSGRCh37
GRCh371933,792,316 - 33,792,504UniSTSGRCh37
Celera1930,486,224 - 30,486,875UniSTS
Celera1930,485,881 - 30,486,069UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 700 690 567 356 785 311 2394 255 424 19 306 651 49 1148 1131 4
Low 1716 1967 1067 233 633 118 1854 1729 3223 171 1020 820 121 56 1626 1 1
Below cutoff 14 326 72 31 208 32 85 210 64 105 108 114 1 31

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000498907   ⟹   ENSP00000427514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1933,299,934 - 33,302,534 (-)Ensembl
RefSeq Acc Id: NM_001285829   ⟹   NP_001272758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,299,934 - 33,302,534 (-)NCBI
HuRef1930,291,676 - 30,294,205 (-)NCBI
CHM1_11933,791,795 - 33,794,425 (-)NCBI
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287424   ⟹   NP_001274353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,299,934 - 33,302,534 (-)NCBI
HuRef1930,291,676 - 30,294,205 (-)NCBI
CHM1_11933,791,795 - 33,794,425 (-)NCBI
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287435   ⟹   NP_001274364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,299,934 - 33,302,534 (-)NCBI
HuRef1930,291,676 - 30,294,205 (-)NCBI
CHM1_11933,791,795 - 33,794,425 (-)NCBI
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004364   ⟹   NP_004355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381933,299,934 - 33,302,534 (-)NCBI
GRCh371933,790,840 - 33,793,430 (-)ENTREZGENE
Build 361938,482,776 - 38,485,160 (-)NCBI Archive
HuRef1930,291,676 - 30,294,205 (-)ENTREZGENE
CHM1_11933,791,795 - 33,794,425 (-)NCBI
T2T-CHM13v2.01935,819,706 - 35,822,306 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_004355   ⟸   NM_004364
- Peptide Label: isoform a
- UniProtKB: P78319 (UniProtKB/Swiss-Prot),   A7LNP2 (UniProtKB/Swiss-Prot),   Q05CA4 (UniProtKB/Swiss-Prot),   P49715 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001272758   ⟸   NM_001285829
- Peptide Label: isoform b
- UniProtKB: P49715 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274353   ⟸   NM_001287424
- Peptide Label: isoform c
- UniProtKB: P49715 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001274364   ⟸   NM_001287435
- Peptide Label: isoform d
- UniProtKB: P49715 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427514   ⟸   ENST00000498907
Protein Domains
bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49715-F1-model_v2 AlphaFold P49715 1-358 view protein structure

Promoters
RGD ID:6795763
Promoter ID:HG_KWN:29550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000320232,   ENST00000328368,   NR_026887
Position:
Human AssemblyChrPosition (strand)Source
Build 361938,481,926 - 38,485,642 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1833 AgrOrtholog
COSMIC CEBPA COSMIC
Ensembl Genes ENSG00000245848 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000498907 ENTREZGENE
  ENST00000498907.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
GTEx ENSG00000245848 GTEx
HGNC ID HGNC:1833 ENTREZGENE
Human Proteome Map CEBPA Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot
  bZIP_sf UniProtKB/Swiss-Prot
  C/EBP UniProtKB/Swiss-Prot
  C/EBP_chordates UniProtKB/Swiss-Prot
KEGG Report hsa:1050 UniProtKB/Swiss-Prot
NCBI Gene 1050 ENTREZGENE
OMIM 116897 OMIM
PANTHER CCAAT/ENHANCER BINDING PROTEIN UniProtKB/Swiss-Prot
  CCAAT/ENHANCER-BINDING PROTEIN ALPHA UniProtKB/Swiss-Prot
Pfam bZIP_2 UniProtKB/Swiss-Prot
PharmGKB PA26376 PharmGKB
PIRSF CCAAT/enhancer-binding UniProtKB/Swiss-Prot
PROSITE BZIP UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57959 UniProtKB/Swiss-Prot
UniProt A7LNP2 ENTREZGENE
  CEBPA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78319 ENTREZGENE
  Q05CA4 ENTREZGENE
UniProt Secondary A7LNP2 UniProtKB/Swiss-Prot
  P78319 UniProtKB/Swiss-Prot
  Q05CA4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 CEBPA  CCAAT enhancer binding protein alpha  CEBPA  CCAAT/enhancer binding protein alpha  Symbol and/or name change 5135510 APPROVED
2016-01-12 CEBPA  CCAAT/enhancer binding protein alpha  CEBPA  CCAAT/enhancer binding protein (C/EBP), alpha  Symbol and/or name change 5135510 APPROVED