JAK2 (Janus kinase 2) - Rat Genome Database

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Gene: JAK2 (Janus kinase 2) Homo sapiens
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Symbol: JAK2
Name: Janus kinase 2
RGD ID: 731748
HGNC Page HGNC:6192
Description: Enables several functions, including SH2 domain binding activity; heme binding activity; and histone H3Y41 kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of lymphocyte proliferation; and positive regulation of type II interferon production. Acts upstream of or within positive regulation of SMAD protein signal transduction; positive regulation of platelet activation; and response to antibiotic. Located in several cellular components, including focal adhesion; granulocyte macrophage colony-stimulating factor receptor complex; and nucleoplasm. Is extrinsic component of cytoplasmic side of plasma membrane. Implicated in several diseases, including gastrointestinal system cancer (multiple); hematologic cancer (multiple); hepatic vascular disease (multiple); inflammatory bowel disease (multiple); and lung non-small cell carcinoma (multiple). Biomarker of several diseases, including bacterial gastritis; gastrointestinal system cancer (multiple); limited scleroderma; liver cirrhosis (multiple); and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: JAK-2; Janus kinase 2 (a protein tyrosine kinase); JTK10; THCYT3; tyrosine-protein kinase JAK2
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3894,984,390 - 5,129,948 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl94,984,390 - 5,129,948 (+)EnsemblGRCh38hg38GRCh38
GRCh3794,984,390 - 5,129,948 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3694,975,245 - 5,117,995 (+)NCBINCBI36Build 36hg18NCBI36
Build 3494,975,244 - 5,117,995NCBI
Celera94,910,860 - 5,053,802 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef94,940,783 - 5,083,727 (+)NCBIHuRef
CHM1_194,985,470 - 5,128,355 (+)NCBICHM1_1
T2T-CHM13v2.094,989,498 - 5,135,022 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
Acute Lymphoblastic Leukemia, with Lymphomatous Features  (IAGP)
acute myeloid leukemia  (EXP,IAGP)
adrenocortical carcinoma  (IAGP)
alcoholic liver cirrhosis  (IEP)
Alzheimer's disease  (ISO)
anemia  (ISO)
ankylosing spondylitis  (IAGP)
atherosclerosis  (ISO)
bacterial gastritis  (IEP)
Brain Injuries  (ISO)
Budd-Chiari syndrome  (EXP,IAGP)
Cachexia  (ISO)
calcinosis  (EXP)
Cancer Pain  (ISO)
chromosome 9p deletion syndrome  (IAGP)
chronic myelogenous leukemia, BCR-ABL1 positive  (IAGP)
chronic myeloid leukemia  (IAGP)
colon adenocarcinoma  (IEP,IMP)
colon cancer  (ISO)
colorectal carcinoma  (ISO)
COVID-19  (HEP)
Crohn's disease  (IAGP)
Diabetic Nephropathies  (ISO)
esophageal carcinoma  (IDA)
esophagus squamous cell carcinoma  (IEP)
essential thrombocythemia  (EXP,IAGP,ISS)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Colitis  (ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
Experimental Liver Neoplasms  (EXP)
familial erythrocytosis 1  (EXP,IAGP)
familial erythrocytosis 2  (ISO)
genetic disease  (IAGP)
Genetic Predisposition to Disease  (EXP)
glucose intolerance  (ISO)
Growth Disorders  (ISO)
heart disease  (ISO)
heart valve disease  (EXP)
hepatocellular carcinoma  (IEP,ISO)
hereditary breast ovarian cancer syndrome  (IAGP)
Hyperalgesia  (ISO)
hyperuricemia  (ISO)
Inflammation  (EXP)
Intestinal Reperfusion Injury  (ISO)
leukemia  (EXP,IAGP)
limited scleroderma  (IEP)
liver cancer  (IEP,IMP)
liver cirrhosis  (IEP)
Liver Injury  (ISO)
Liver Reperfusion Injury  (ISO)
lung adenocarcinoma  (IMP)
lung carcinoma  (IEP)
lung non-small cell carcinoma  (IMP)
mesenteric vascular occlusion  (EXP)
metabolic dysfunction-associated steatohepatitis  (ISO)
metabolic dysfunction-associated steatotic liver disease  (EXP,ISO)
myelofibrosis  (EXP,IAGP,IMP,ISS)
myeloid neoplasm  (EXP,IAGP)
myeloproliferative neoplasm  (ISS)
myocardial infarction  (ISO)
Myocardial Ischemia  (EXP)
Myocardial Reperfusion Injury  (ISO)
nasopharynx carcinoma  (IEP)
Neoplasm Metastasis  (IMP)
Neoplastic Cell Transformation  (EXP)
nephrotic syndrome  (ISO)
Niemann-Pick disease type C1  (ISO)
obesity  (IEP,ISO)
polycythemia  (EXP,IAGP,ISO)
polycythemia vera  (EXP,IAGP,ISS)
portal hypertension  (IMP)
Pregnancy Complications  (EXP)
primary biliary cholangitis  (ISO)
primary ovarian insufficiency  (IAGP)
Prostatic Neoplasms  (EXP)
Reperfusion Injury  (ISO)
retinal detachment  (ISO)
rheumatoid arthritis  (ISO)
scrapie  (ISO)
Sepsis  (ISO)
Sepsis-Associated Encephalopathy  (ISO)
Spinal Cord Injuries  (ISO)
Splenomegaly  (IAGP)
Spontaneous Abortions  (EXP)
steatotic liver disease  (ISO)
stomach cancer  (IAGP,IEP)
Stroke  (ISO)
systemic lupus erythematosus  (ISO)
Thrombocythemia 3  (IAGP)
thrombocytosis  (EXP,IAGP)
Thromboembolism  (EXP)
thrombosis  (IAGP)
transient cerebral ischemia  (ISO)
ulcerative colitis  (EXP,IAGP)
urinary bladder cancer  (EXP)
Uterine Cervical Neoplasms  (EXP)
Venous Thrombosis  (EXP,IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-Arctigenin  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(4-oxo-3-\{[5-(trifluoromethyl)-1,3-benzothiazol-2-yl]methyl\}-3,4-dihydrophthalazin-1-yl)acetic acid  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-ethoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,8-dihydroxycoumarin  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
abamectin  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
actinomycin D  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
aluminium hydroxide  (ISO)
amitrole  (ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
angiotensin II  (EXP)
antirheumatic drug  (EXP)
apocynin  (EXP)
arecoline  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
auranofin  (EXP)
Bardoxolone methyl  (ISO)
baricitinib  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-Elemonic acid  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
calciol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (EXP)
capillarisin  (EXP)
carbon nanotube  (ISO)
ceruletide  (ISO)
chelerythrine  (ISO)
chloroquine  (EXP)
chlorpyrifos  (ISO)
Cirsimarin  (ISO)
cisplatin  (EXP,ISO)
clomiphene  (EXP)
clothianidin  (EXP)
clozapine  (ISO)
cocaine  (ISO)
coniferyl aldehyde  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
cordycepin  (ISO)
corticosterone  (ISO)
coumermycin A1  (ISO)
crocin-1  (EXP)
cucurbitacin I  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
daunorubicin  (EXP)
decabromodiphenyl ether  (ISO)
delphinidin  (EXP)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (EXP,ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
diquat  (ISO)
divanadium pentaoxide  (EXP)
doxorubicin  (EXP,ISO)
emodin  (EXP)
eriocitrin  (EXP)
erlotinib hydrochloride  (EXP)
estrone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
fraxetin  (EXP)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
galaxolide  (EXP)
Ganoderic acid A  (ISO)
genistein  (EXP)
Gingerenone A  (EXP)
Ginkgoic acid  (EXP)
glucose  (EXP,ISO)
glutathione  (ISO)
Goe 6976  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hesperetin  (ISO)
hesperidin  (ISO)
hexadecanoic acid  (EXP)
hexestrol  (EXP)
hispidulin  (EXP)
hydrogen peroxide  (EXP,ISO)
ivermectin  (EXP)
kainic acid  (EXP,ISO)
ketamine  (ISO)
L-arginine  (ISO)
lapatinib  (EXP)
limonin  (ISO)
linagliptin  (ISO)
lipopolysaccharide  (EXP,ISO)
loliolide  (EXP)
losartan  (EXP)
LY294002  (ISO)
melittin  (EXP)
melphalan  (EXP)
mercury atom  (EXP)
mercury dichloride  (EXP)
mercury(0)  (EXP)
mesalamine  (ISO)
mestranol  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
Methylthiouracil  (EXP)
mevalonic acid  (ISO)
microcystin-LR  (EXP,ISO)
mitoxantrone  (EXP)
N-[2-(diethylamino)ethyl]-2-methoxy-5-methylsulfonylbenzamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nicotine  (EXP,ISO)
nimesulide  (EXP)
nitric oxide  (ISO)
Nonylphenol  (ISO)
okadaic acid  (EXP)
olanzapine  (ISO)
oleic acid  (EXP)
ozone  (ISO)
pantoprazole  (ISO)
paracetamol  (ISO)
paroxetine  (EXP)
PD123319  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylpropanolamine  (ISO)
PhIP  (EXP)
phosphane  (ISO)
phosphatidic acid  (ISO)
pipoxolan  (ISO)
pirinixic acid  (ISO)
platycodin D  (EXP)
ponatinib  (EXP)
Ponicidin  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP)
progesterone  (EXP)
propofol  (EXP)
pterostilbene  (EXP)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
Rhynchophylline  (ISO)
rotenone  (EXP)
rutin  (ISO)
ruxolitinib  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
S3I-201  (EXP)
Salinomycin  (EXP)
selumetinib  (EXP)
silibinin  (EXP)
silicon dioxide  (EXP)
simvastatin  (ISO)
Sinomenine  (ISO)
sodium arsenite  (EXP)
sphingosine 1-phosphate  (EXP)
spironolactone  (ISO)
stattic  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP,ISO)
tacrolimus hydrate  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
theobromine  (ISO)
thymoquinone  (EXP,ISO)
Tiron  (EXP)
tofacitinib  (EXP)
trichloroethene  (EXP)
trichostatin A  (EXP)
Triptolide  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tyrphostin B42  (EXP,ISO)
umbelliferone  (ISO)
urethane  (EXP,ISO)
valproic acid  (EXP)
valsartan  (EXP)
verteporfin  (ISO)
vinclozolin  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament polymerization  (NAS)
adaptive immune response  (IEA)
apoptotic process  (ISS)
axon regeneration  (IEA,ISO)
cell differentiation  (IEA,ISO,ISS)
cell surface receptor signaling pathway via JAK-STAT  (IBA,IDA,IEA,ISO,ISS,TAS)
cellular response to dexamethasone stimulus  (IEA,ISO)
cellular response to interleukin-3  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to virus  (NAS)
chromatin organization  (IEA)
chromatin remodeling  (IEA)
collagen-activated signaling pathway  (IMP)
cytokine-mediated signaling pathway  (IBA,IDA,IEA,ISS,TAS)
enzyme-linked receptor protein signaling pathway  (IEA,ISO,ISS)
erythrocyte differentiation  (IBA,IEA,ISS)
extrinsic apoptotic signaling pathway  (IEA,ISO,ISS)
G protein-coupled receptor signaling pathway  (IEA,ISO)
granulocyte-macrophage colony-stimulating factor signaling pathway  (IDA)
growth hormone receptor signaling pathway  (IDA)
growth hormone receptor signaling pathway via JAK-STAT  (IBA,IEA,ISO,ISS)
hormone-mediated signaling pathway  (IEA,ISO)
immune response  (NAS)
immune system process  (IEA)
innate immune response  (IEA)
interleukin-12-mediated signaling pathway  (IDA)
interleukin-3-mediated signaling pathway  (IDA)
interleukin-35-mediated signaling pathway  (TAS)
interleukin-5-mediated signaling pathway  (IDA)
interleukin-6-mediated signaling pathway  (TAS)
intracellular signal transduction  (IBA,IEA,ISO,ISS,TAS)
intrinsic apoptotic signaling pathway in response to oxidative stress  (IEA,ISO)
mammary gland epithelium development  (IEA,ISO,ISS)
mesoderm development  (TAS)
microglial cell activation  (IEA,ISS)
mineralocorticoid receptor signaling pathway  (IEA,ISO)
modulation of chemical synaptic transmission  (IEA)
myeloid cell differentiation  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
negative regulation of cell population proliferation  (IEA,ISO,ISS)
negative regulation of cell-cell adhesion  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
platelet-derived growth factor receptor signaling pathway  (IEA,ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of apoptotic signaling pathway  (IEA,ISO)
positive regulation of cell activation  (IEA,ISO)
positive regulation of cell differentiation  (IEA,ISO)
positive regulation of cell migration  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cell-substrate adhesion  (IDA)
positive regulation of cold-induced thermogenesis  (IEA,ISS)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of DNA binding  (ISO)
positive regulation of DNA-binding transcription factor activity  (ISO)
positive regulation of epithelial cell apoptotic process  (IEA,ISO)
positive regulation of growth factor dependent skeletal muscle satellite cell proliferation  (IEA,ISO)
positive regulation of growth hormone receptor signaling pathway  (IEA,ISS)
positive regulation of insulin secretion  (IEA,ISO)
positive regulation of interleukin-1 beta production  (IEA,ISO,ISS)
positive regulation of interleukin-17 production  (NAS)
positive regulation of leukocyte proliferation  (IDA)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of MHC class II biosynthetic process  (IEA,ISS)
positive regulation of natural killer cell proliferation  (IDA)
positive regulation of nitric oxide biosynthetic process  (IEA,ISO)
positive regulation of nitric-oxide synthase biosynthetic process  (IEA,ISS)
positive regulation of NK T cell proliferation  (IDA,NAS)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS,TAS)
positive regulation of phosphoprotein phosphatase activity  (ISO)
positive regulation of platelet activation  (IDA)
positive regulation of platelet aggregation  (IDA)
positive regulation of protein import into nucleus  (IEA,ISO)
positive regulation of receptor signaling pathway via JAK-STAT  (IDA)
positive regulation of SMAD protein signal transduction  (IGI)
positive regulation of T cell proliferation  (IDA,IEA)
positive regulation of T-helper 17 type immune response  (NAS)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
positive regulation of tumor necrosis factor production  (IEA,ISS)
positive regulation of type II interferon production  (IDA)
positive regulation of tyrosine phosphorylation of STAT protein  (IEA,ISS)
positive regulation of vascular associated smooth muscle cell proliferation  (IEA,ISO)
post-embryonic hemopoiesis  (IEA)
post-translational protein modification  (IDA)
protein autophosphorylation  (ISO)
regulation of apoptotic process  (IBA,IEA)
regulation of cell adhesion  (IEA)
regulation of inflammatory response  (IDA)
regulation of multicellular organismal process  (IEA)
regulation of nitric oxide biosynthetic process  (IEA,ISS)
regulation of postsynapse to nucleus signaling pathway  (IEA)
regulation of receptor signaling pathway via JAK-STAT  (ISS)
response to amine  (IEA,ISO)
response to antibiotic  (IDA)
response to hydroperoxide  (IEA,ISO)
response to interleukin-12  (IDA)
response to lipopolysaccharide  (IEA,ISS)
response to organic cyclic compound  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
response to tumor necrosis factor  (IDA)
signal transduction  (IEA,ISS)
symbiont-induced defense-related programmed cell death  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
tumor necrosis factor-mediated signaling pathway  (IDA)
type II interferon-mediated signaling pathway  (IEA,NAS,TAS)
tyrosine phosphorylation of STAT protein  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal bone marrow cell morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal megakaryocyte morphology  (IAGP)
Abnormal platelet morphology  (IAGP)
Abnormal thrombosis  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of thrombocytes  (IAGP)
Abnormality of vision  (IAGP)
Acute hepatic failure  (IAGP)
Acute leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Adrenocortical carcinoma  (IAGP)
Adult onset  (IAGP)
Amaurosis fugax  (IAGP)
Anemia  (IAGP)
Angina pectoris  (IAGP)
Anorexia  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bruising susceptibility  (IAGP)
Budd-Chiari syndrome  (IAGP)
Cachexia  (IAGP)
Cerebral hemorrhage  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Cholecystitis  (IAGP)
Chronic myelogenous leukemia  (IAGP)
Cirrhosis  (IAGP)
Constitutional symptom  (IAGP)
Dysarthria  (IAGP)
Early satiety  (IAGP)
Easy fatigability  (IAGP)
Ecchymosis  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Epistaxis  (IAGP)
Erythromelalgia  (IAGP)
Esophageal varix  (IAGP)
Exertional dyspnea  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flank pain  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal infarctions  (IAGP)
Gingival bleeding  (IAGP)
Headache  (IAGP)
Hemangioma  (IAGP)
Hematological neoplasm  (IAGP)
Hemophagocytosis  (IAGP)
Hepatic vein thrombosis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased hematocrit  (IAGP)
Increased megakaryocyte count  (IAGP)
Increased micromegakaryocyte count  (IAGP)
Increased multinucleated megakaryocyte count  (IAGP)
Increased red blood cell mass  (IAGP)
Infantile onset  (IAGP)
Insomnia  (IAGP)
Intermediate young adult onset  (IAGP)
Intermittent claudication  (IAGP)
Intestinal obstruction  (IAGP)
Ischemic stroke  (IAGP)
Jaundice  (IAGP)
Late onset  (IAGP)
Leukocytosis  (IAGP)
Low-grade fever  (IAGP)
Lymphadenopathy  (IAGP)
Malabsorption  (IAGP)
Megakaryocyte nucleus hyperlobulation  (IAGP)
Middle age onset  (IAGP)
Migraine  (IAGP)
Miscarriage  (IAGP)
Myelodysplasia  (IAGP)
Myelofibrosis  (IAGP)
Myeloproliferative disorder  (IAGP)
Myocardial infarction  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Paresthesia  (IAGP)
Peripheral arterial stenosis  (IAGP)
Peripheral thrombosis  (IAGP)
Peritonitis  (IAGP)
Petechiae  (IAGP)
Plethora  (IAGP)
Poikilocytosis  (IAGP)
Polycythemia  (IAGP)
Portal hypertension  (IAGP)
Portal vein thrombosis  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prolonged bleeding time  (IAGP)
Pruritus  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary embolism  (IAGP)
Purpura  (IAGP)
Respiratory insufficiency  (IAGP)
Sacroiliac arthritis  (IAGP)
Seizure  (IAGP)
Splenomegaly  (IAGP)
Sporadic  (IAGP)
Stroke  (IAGP)
Syncope  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Thromboembolism  (IAGP)
Tinnitus  (IAGP)
Transient ischemic attack  (IAGP)
Typified by somatic mosaicism  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
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68. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
69. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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90. Discovery of the macrocycle (9E)-15-(2-(pyrrolidin-1-yl)ethoxy)-7,12,25-trioxa-19,21,24-triaza-tetracyclo[18. 3.1.1(2,5).1(14,18)]hexacosa-1(24),2,4,9,14(26),15,17,20,22-nonaene (SB1578), a potent inhibitor of janus kinase 2/fms-like tyrosine kinase-3 (JAK2/FLT3) for the treatment of rheumatoid arthritis. William AD, etal., J Med Chem. 2012 Mar 22;55(6):2623-40. doi: 10.1021/jm201454n. Epub 2012 Mar 6.
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92. Curcumin suppresses stem-like traits of lung cancer cells via inhibiting the JAK2/STAT3 signaling pathway. Wu L, etal., Oncol Rep. 2015 Dec;34(6):3311-7. doi: 10.3892/or.2015.4279. Epub 2015 Sep 16.
93. IL-6 secreted by cancer-associated fibroblasts promotes epithelial-mesenchymal transition and metastasis of gastric cancer via JAK2/STAT3 signaling pathway. Wu X, etal., Oncotarget. 2017 Mar 28;8(13):20741-20750. doi: 10.18632/oncotarget.15119.
94. Effects of supplemental erythropoietin on its receptor expression and signal transduction pathways in rat model of retinal detachment. Xie Z, etal., Curr Eye Res. 2012 Feb;37(2):138-44. doi: 10.3109/02713683.2011.647225.
95. 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.
96. The effect of JAK2 knockout on inhibition of liver tumor growth by inducing apoptosis, autophagy and anti-proliferation via STATs and PI3K/AKT signaling pathways. Xu Y and Lv SX, Biomed Pharmacother. 2016 Dec;84:1202-1212. doi: 10.1016/j.biopha.2016.09.040. Epub 2016 Oct 24.
97. Emulsified isoflurane induces postconditioning against myocardial infarction via JAK-STAT pathway. Yan L, etal., J Surg Res. 2012 Dec;178(2):578-85. doi: 10.1016/j.jss.2012.06.007. Epub 2012 Jun 21.
98. Janus kinase 2 polymorphisms are associated with risk in patients with gastric cancer in a Chinese population. Yang L, etal., PLoS One. 2013 May 24;8(5):e64628. doi: 10.1371/journal.pone.0064628. Print 2013.
99. JAK2/STAT3 activation by melatonin attenuates the mitochondrial oxidative damage induced by myocardial ischemia/reperfusion injury. Yang Y, etal., J Pineal Res. 2013 Oct;55(3):275-86. doi: 10.1111/jpi.12070. Epub 2013 Jun 25.
100. Prolactin promotes hepatocellular carcinoma through Janus kinase 2. Yeh YT, etal., World J Surg. 2012 May;36(5):1128-35. doi: 10.1007/s00268-012-1505-4.
101. The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis. Zerjavic K, etal., Thromb Res. 2013 Aug;132(2):e86-93. doi: 10.1016/j.thromres.2013.06.021. Epub 2013 Jul 9.
102. Protection of curcumin against fructose-induced hyperuricaemia and renal endothelial dysfunction involves NO-mediated JAK-STAT signalling in rats. Zhang DM, etal., Food Chem. 2012 Oct 15;134(4):2184-93. doi: 10.1016/j.foodchem.2012.04.026. Epub 2012 Apr 17.
103. JAK2 inhibitor TG101348 overcomes erlotinib-resistance in non-small cell lung carcinoma cells with mutated EGF receptor. Zhang FQ, etal., Oncotarget. 2015 Jun 10;6(16):14329-43. doi: 10.18632/oncotarget.3685.
104. Inhibition of JAK2/STAT3 signaling pathway protects mice from the DDP-induced acute kidney injury in lung cancer. Zhang L, etal., Inflamm Res. 2019 Sep;68(9):751-760. doi: 10.1007/s00011-019-01258-4. Epub 2019 Jun 26.
105. Oxymatrine protects against myocardial injury via inhibition of JAK2/STAT3 signaling in rat septic shock. Zhang M, etal., Mol Med Rep. 2013 Apr;7(4):1293-9. doi: 10.3892/mmr.2013.1315. Epub 2013 Feb 8.
106. Amyloid-beta induces hepatic insulin resistance in vivo via JAK2. Zhang Y, etal., Diabetes. 2013 Apr;62(4):1159-66. doi: 10.2337/db12-0670. Epub 2012 Dec 6.
107. Activation of JAK2/STAT pathway in cerebral cortex after experimental traumatic brain injury of rats. Zhao JB, etal., Neurosci Lett. 2011 Jul 8;498(2):147-52. Epub 2011 May 10.
108. [Effects of puerarin on expressions of leptin receptor mRNA, phosphorylated Janus kinase 2/phosphorylated signal transducers and activators of transcription 3 proteins in the liver of rats with non-alcoholic fatty liver]. Zheng PY, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Sep;6(9):921-7.
109. Recombinant human erythropoietin attenuates neuronal apoptosis and cognitive defects via JAK2/STAT3 signaling in experimental endotoxemia. Zhou TF and Yu JG, J Surg Res. 2013 Jul;183(1):304-12. doi: 10.1016/j.jss.2012.11.035. Epub 2012 Dec 6.
110. Elevated retinol binding protein 4 levels are associated with atherosclerosis in diabetic rats via JAK2/STAT3 signaling pathway. Zhou W, etal., World J Diabetes. 2021 Apr 15;12(4):466-479. doi: 10.4239/wjd.v12.i4.466.
111. SMND-309, a novel derivative of salvianolic acid B, protects rat brains ischemia and reperfusion injury by targeting the JAK2/STAT3 pathway. Zhu H, etal., Eur J Pharmacol. 2013 Aug 15;714(1-3):23-31. doi: 10.1016/j.ejphar.2013.05.043. Epub 2013 Jun 11.
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PMID:24813920   PMID:24820309   PMID:24833397   PMID:24843152   PMID:24858412   PMID:24860972   PMID:24869939   PMID:24886089   PMID:24886434   PMID:24895580   PMID:24907356   PMID:24913195  
PMID:24918548   PMID:24920845   PMID:24930769   PMID:24931576   PMID:24932998   PMID:24951423   PMID:24953013   PMID:24972151   PMID:24986690   PMID:25012914   PMID:25015051   PMID:25023898  
PMID:25040297   PMID:25044358   PMID:25047843   PMID:25055044   PMID:25059472   PMID:25069759   PMID:25082530   PMID:25092874   PMID:25103330   PMID:25104439   PMID:25105841   PMID:25115511  
PMID:25115839   PMID:25132652   PMID:25139350   PMID:25140764   PMID:25143485   PMID:25146330   PMID:25189720   PMID:25194807   PMID:25196853   PMID:25220761   PMID:25226617   PMID:25231745  
PMID:25260694   PMID:25288776   PMID:25305205   PMID:25310198   PMID:25323779   PMID:25332239   PMID:25345590   PMID:25354842   PMID:25366168   PMID:25395421   PMID:25398833   PMID:25405202  
PMID:25405790   PMID:25425199   PMID:25432436   PMID:25482455   PMID:25485912   PMID:25515960   PMID:25516983   PMID:25522845   PMID:25526816   PMID:25527813   PMID:25537973   PMID:25540065  
PMID:25559461   PMID:25573593   PMID:25585370   PMID:25617626   PMID:25624455   PMID:25630751   PMID:25637689   PMID:25644777   PMID:25656053   PMID:25666256   PMID:25671252   PMID:25684945  
PMID:25686645   PMID:25691062   PMID:25698270   PMID:25745188   PMID:25760445   PMID:25771902   PMID:25794131   PMID:25801912   PMID:25804613   PMID:25809027   PMID:25818476   PMID:25824690  
PMID:25824741   PMID:25825724   PMID:25852190   PMID:25907517   PMID:25913509   PMID:25931349   PMID:25934766   PMID:25940527   PMID:25955555   PMID:25959311   PMID:25968903   PMID:25976465  
PMID:25997869   PMID:26011312   PMID:26017288   PMID:26028607   PMID:26071474   PMID:26084564   PMID:26119186   PMID:26123310   PMID:26125778   PMID:26149212   PMID:26151358   PMID:26153131  
PMID:26175413   PMID:26191195   PMID:26214121   PMID:26216197   PMID:26227846   PMID:26227853   PMID:26234675   PMID:26238013   PMID:26238612   PMID:26256826   PMID:26317899   PMID:26356819  
PMID:26360705   PMID:26361084   PMID:26362718   PMID:26371429   PMID:26375990   PMID:26413812   PMID:26419289   PMID:26419724   PMID:26450123   PMID:26464031   PMID:26472029   PMID:26489695  
PMID:26492336   PMID:26514532   PMID:26515423   PMID:26515594   PMID:26525581   PMID:26614694   PMID:26617890   PMID:26621504   PMID:26625816   PMID:26635038   PMID:26646156   PMID:26648570  
PMID:26676749   PMID:26682870   PMID:26707639   PMID:26754830   PMID:26755644   PMID:26755649   PMID:26762740   PMID:26768689   PMID:26774497   PMID:26775640   PMID:26847954   PMID:26850007  
PMID:26852656   PMID:26901336   PMID:26917989   PMID:26945263   PMID:26980034   PMID:26994960   PMID:27009537   PMID:27018326   PMID:27039724   PMID:27039813   PMID:27041564   PMID:27053336  
PMID:27061303   PMID:27075627   PMID:27084251   PMID:27086650   PMID:27106701   PMID:27111338   PMID:27132877   PMID:27133820   PMID:27136492   PMID:27136912   PMID:27147566   PMID:27198504  
PMID:27209416   PMID:27227461   PMID:27229929   PMID:27243342   PMID:27247323   PMID:27268052   PMID:27288519   PMID:27322953   PMID:27323056   PMID:27351213   PMID:27363269   PMID:27365426  
PMID:27376361   PMID:27381056   PMID:27389386   PMID:27389715   PMID:27396825   PMID:27402956   PMID:27409672   PMID:27410686   PMID:27418650   PMID:27427771   PMID:27461043   PMID:27468853  
PMID:27486987   PMID:27517565   PMID:27531097   PMID:27554814   PMID:27556503   PMID:27566291   PMID:27614229   PMID:27618352   PMID:27640403   PMID:27647865   PMID:27650062   PMID:27662324  
PMID:27666014   PMID:27686378   PMID:27699453   PMID:27706633   PMID:27761006   PMID:27765933   PMID:27766390   PMID:27774581   PMID:27796499   PMID:27831681   PMID:27852544   PMID:27855276  
PMID:27865175   PMID:27889755   PMID:27903500   PMID:27919526   PMID:27965977   PMID:27976991   PMID:28011380   PMID:28024182   PMID:28029004   PMID:28038963   PMID:28057939   PMID:28096537  
PMID:28108507   PMID:28112370   PMID:28126623   PMID:28161773   PMID:28164603   PMID:28177455   PMID:28205126   PMID:28228104   PMID:28232234   PMID:28258213   PMID:28278513   PMID:28278708  
PMID:28300289   PMID:28314843   PMID:28319113   PMID:28334068   PMID:28365441   PMID:28385780   PMID:28415571   PMID:28447719   PMID:28456851   PMID:28475004   PMID:28490530   PMID:28509339  
PMID:28544312   PMID:28550306   PMID:28557976   PMID:28569433   PMID:28585070   PMID:28601022   PMID:28602977   PMID:28609766   PMID:28611215   PMID:28622624   PMID:28625126   PMID:28639892  
PMID:28645562   PMID:28656307   PMID:28676638   PMID:28677802   PMID:28686668   PMID:28686728   PMID:28687621   PMID:28714945   PMID:28744014   PMID:28765941   PMID:28766534   PMID:28775167  
PMID:28794431   PMID:28795418   PMID:28797996   PMID:28810143   PMID:28831147   PMID:28879797   PMID:28935989   PMID:28944411   PMID:28947543   PMID:28990497   PMID:29022213   PMID:29066347  
PMID:29074425   PMID:29082853   PMID:29101828   PMID:29130936   PMID:29134760   PMID:29146710   PMID:29147913   PMID:29162613   PMID:29168692   PMID:29181548   PMID:29187454   PMID:29245068  
PMID:29263442   PMID:29266414   PMID:29278854   PMID:29281186   PMID:29295644   PMID:29306106   PMID:29327708   PMID:29355841   PMID:29360553   PMID:29368262   PMID:29388151   PMID:29390868  
PMID:29393444   PMID:29409529   PMID:29464483   PMID:29472375   PMID:29483713   PMID:29508247   PMID:29521158   PMID:29521586   PMID:29534592   PMID:29567812   PMID:29596070   PMID:29650953  
PMID:29651140   PMID:29656438   PMID:29662190   PMID:29668539   PMID:29674694   PMID:29676528   PMID:29678569   PMID:29678906   PMID:29713848   PMID:29748437   PMID:29752723   PMID:29767839  
PMID:29778097   PMID:29782975   PMID:29791864   PMID:29797567   PMID:29842959   PMID:29845291   PMID:29898990   PMID:29917141   PMID:29933930   PMID:29934356   PMID:29957463   PMID:29987050  
PMID:29991678   PMID:30004057   PMID:30005133   PMID:30044226   PMID:30056970   PMID:30078206   PMID:30084272   PMID:30092288   PMID:30103245   PMID:30129052   PMID:30171023   PMID:30236595  
PMID:30249383   PMID:30251405   PMID:30292681   PMID:30299194   PMID:30302825   PMID:30304655   PMID:30377194   PMID:30413785   PMID:30447300   PMID:30452397   PMID:30478722   PMID:30501715  
PMID:30516848   PMID:30521925   PMID:30548332   PMID:30593755   PMID:30605212   PMID:30634502   PMID:30651633   PMID:30677867   PMID:30678647   PMID:30755420   PMID:30803277   PMID:30811597  
PMID:30872773   PMID:30904607   PMID:30937892   PMID:30945288   PMID:30964171   PMID:30965317   PMID:30967616   PMID:30967632   PMID:31000675   PMID:31069840   PMID:31090259   PMID:31135094  
PMID:31145836   PMID:31189744   PMID:31199972   PMID:31227936   PMID:31286322   PMID:31299252   PMID:31339852   PMID:31449697   PMID:31495895   PMID:31511084   PMID:31513718   PMID:31541909  
PMID:31548225   PMID:31554376   PMID:31558664   PMID:31571131   PMID:31594917   PMID:31595981   PMID:31600213   PMID:31607314   PMID:31668145   PMID:31697804   PMID:31704857   PMID:31731888  
PMID:31737947   PMID:31760539   PMID:31766099   PMID:31838722   PMID:31844068   PMID:31870101   PMID:31882869   PMID:31933320   PMID:31943454   PMID:31994332   PMID:32001089   PMID:32017846  
PMID:32045382   PMID:32067230   PMID:32070814   PMID:32081398   PMID:32098944   PMID:32133692   PMID:32154655   PMID:32164591   PMID:32165235   PMID:32238402   PMID:32266587   PMID:32271392  
PMID:32277273   PMID:32296013   PMID:32296029   PMID:32323737   PMID:32356150   PMID:32366936   PMID:32430672   PMID:32479500   PMID:32499240   PMID:32503225   PMID:32532922   PMID:32565533  
PMID:32591258   PMID:32598732   PMID:32599005   PMID:32646925   PMID:32654426   PMID:32679300   PMID:32694617   PMID:32698197   PMID:32755630   PMID:32762473   PMID:32798420   PMID:32814440  
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PMID:33122102   PMID:33202112   PMID:33226740   PMID:33244866   PMID:33255170   PMID:33290883   PMID:33290964   PMID:33307939   PMID:33361847   PMID:33426053   PMID:33484802   PMID:33507708  
PMID:33603170   PMID:33621788   PMID:33623991   PMID:33628203   PMID:33639674   PMID:33661592   PMID:33664283   PMID:33667305   PMID:33712566   PMID:33789164   PMID:33827897   PMID:33845483  
PMID:33846542   PMID:33903979   PMID:33912910   PMID:33921387   PMID:33961781   PMID:33982216   PMID:34047519   PMID:34060083   PMID:34068690   PMID:34090412   PMID:34105517   PMID:34153382  
PMID:34181056   PMID:34191235   PMID:34197875   PMID:34210413   PMID:34299194   PMID:34300032   PMID:34326465   PMID:34356683   PMID:34378214   PMID:34391444   PMID:34400417   PMID:34482679  
PMID:34515041   PMID:34535626   PMID:34562020   PMID:34603575   PMID:34612768   PMID:34626199   PMID:34627436   PMID:34627437   PMID:34697799   PMID:34702814   PMID:34707127   PMID:34723452  
PMID:34724282   PMID:34748652   PMID:34749590   PMID:34756242   PMID:34796989   PMID:34834023   PMID:34897288   PMID:34906267   PMID:34921959   PMID:34933726   PMID:34987014   PMID:34989544  
PMID:35023693   PMID:35038762   PMID:35051830   PMID:35089929   PMID:35120971   PMID:35162937   PMID:35165011   PMID:35189054   PMID:35216134   PMID:35220895   PMID:35269562   PMID:35279667  
PMID:35288888   PMID:35381670   PMID:35395836   PMID:35593388   PMID:35596061   PMID:35609769   PMID:35748872   PMID:35754115   PMID:35764421   PMID:35839275   PMID:35981996   PMID:35996819  
PMID:36045460   PMID:36112698   PMID:36136222   PMID:36205319   PMID:36242602   PMID:36293440   PMID:36327906   PMID:36385103   PMID:36446389   PMID:36476017   PMID:36485130   PMID:36575176  
PMID:36578217   PMID:36660824   PMID:36719803   PMID:36736316   PMID:36745865   PMID:36774789   PMID:36800830   PMID:36891721   PMID:36895113   PMID:36966432   PMID:37140166   PMID:37178251  
PMID:37232489   PMID:37233774   PMID:37239426   PMID:37278343   PMID:37334581   PMID:37344447   PMID:37401665   PMID:37424335   PMID:37522722   PMID:37706641   PMID:37828534   PMID:37863123  
PMID:37875108   PMID:37883794   PMID:38006726   PMID:38018064   PMID:38093391   PMID:38104968   PMID:38111518   PMID:38139386   PMID:38154546   PMID:38191068   PMID:38197452   PMID:38200372  
PMID:38278152   PMID:38308077   PMID:38387921   PMID:38411346   PMID:38415977   PMID:38433449   PMID:38457493   PMID:38512030  


Genomics

Comparative Map Data
JAK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3894,984,390 - 5,129,948 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl94,984,390 - 5,129,948 (+)EnsemblGRCh38hg38GRCh38
GRCh3794,984,390 - 5,129,948 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3694,975,245 - 5,117,995 (+)NCBINCBI36Build 36hg18NCBI36
Build 3494,975,244 - 5,117,995NCBI
Celera94,910,860 - 5,053,802 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef94,940,783 - 5,083,727 (+)NCBIHuRef
CHM1_194,985,470 - 5,128,355 (+)NCBICHM1_1
T2T-CHM13v2.094,989,498 - 5,135,022 (+)NCBIT2T-CHM13v2.0
Jak2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,229,006 - 29,290,495 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1929,229,228 - 29,290,480 (+)EnsemblGRCm39 Ensembl
GRCm381929,251,803 - 29,313,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,251,828 - 29,313,080 (+)EnsemblGRCm38mm10GRCm38
MGSCv371929,326,318 - 29,387,570 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361929,318,452 - 29,377,979 (+)NCBIMGSCv36mm8
Celera1930,028,576 - 30,089,642 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1923.73NCBI
Jak2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81236,408,905 - 236,468,769 (+)NCBIGRCr8
mRatBN7.21226,995,334 - 227,054,381 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1226,995,334 - 227,054,189 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,396,988 - 235,455,863 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01242,326,646 - 242,385,527 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01235,144,413 - 235,203,184 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,398,667 - 247,457,521 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,398,598 - 247,458,509 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01254,646,160 - 254,706,478 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41232,915,995 - 232,974,763 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11233,080,017 - 233,138,786 (+)NCBI
Celera1224,147,256 - 224,206,104 (+)NCBICelera
Cytogenetic Map1q52NCBI
Jak2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,227,595 - 9,341,208 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,227,897 - 9,341,208 (+)NCBIChiLan1.0ChiLan1.0
JAK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211119,420,003 - 119,589,890 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19119,425,950 - 119,595,837 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v094,820,303 - 4,971,867 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.195,006,271 - 5,156,626 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,006,271 - 5,156,626 (+)Ensemblpanpan1.1panPan2
JAK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,321,055 - 93,438,898 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,142,635 - 93,435,997 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,730,062 - 93,844,204 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0193,940,875 - 93,989,640 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl193,877,224 - 93,990,814 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,507,891 - 93,622,032 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,232,417 - 93,346,624 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0193,996,654 - 94,110,963 (+)NCBIUU_Cfam_GSD_1.0
Jak2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947140,931,052 - 141,061,286 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936503110,963 - 241,867 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936503111,722 - 243,627 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,848,689 - 217,002,148 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,849,744 - 217,002,310 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,696,921 - 242,837,407 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JAK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11274,421,243 - 74,566,766 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1274,421,016 - 74,566,710 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603862,818,134 - 62,927,470 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jak2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247369,724,369 - 9,830,365 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247369,724,876 - 9,827,364 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in JAK2
376 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) single nucleotide variant Acquired polycythemia vera [RCV000015769]|Acute myeloid leukemia [RCV000015771]|Budd-Chiari syndrome, susceptibility to, somatic [RCV000015772]|Chronic myelogenous leukemia, BCR-ABL1 positive [RCV000420273]|Myeloproliferative disorder [RCV000427081]|Polycythemia [RCV001003804]|Primary familial polycythemia due to EPO receptor mutation [RCV000022628]|Primary familial polycythemia due to EPO receptor mutation [RCV000763621]|Primary myelofibrosis [RCV000015770]|Primary myelofibrosis [RCV001003803]|Subacute lymphoid leukemia [RCV000428162]|Thrombocythemia 3 [RCV000022627]|not provided [RCV001092995] Chr9:5073770 [GRCh38]
Chr9:5073770 [GRCh37]
Chr9:9p24.1		 pathogenic|likely pathogenic|risk factor|affects|conflicting interpretations of pathogenicity|other|not provided
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) single nucleotide variant Acute myeloid leukemia [RCV000015773] Chr9:5073742 [GRCh38]
Chr9:5073742 [GRCh37]
Chr9:9p24.1		 pathogenic|other
NM_004972.4(JAK2):c.1615_1616inv (p.Lys539Leu) inversion ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC [RCV000015774] Chr9:5070026..5070027 [GRCh38]
Chr9:5070026..5070027 [GRCh37]
Chr9:9p24.1		 pathogenic|other
NM_004972.4(JAK2):c.1849G>A (p.Val617Ile) single nucleotide variant Thrombocythemia 3 [RCV000022629] Chr9:5073770 [GRCh38]
Chr9:5073770 [GRCh37]
Chr9:9p24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:4970093-5483250)x1 copy number loss See cases [RCV000051142] Chr9:4970093..5483250 [GRCh38]
Chr9:4970093..5483250 [GRCh37]
Chr9:4960093..5473250 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004972.3(JAK2):c.1214C>T (p.Ser405Leu) single nucleotide variant Malignant melanoma [RCV000068681] Chr9:5065040 [GRCh38]
Chr9:5065040 [GRCh37]
Chr9:5055040 [NCBI36]
Chr9:9p24.1		 not provided
NM_004972.3(JAK2):c.1056+2799A>G single nucleotide variant Lung cancer [RCV000108334] Chr9:5058587 [GRCh38]
Chr9:5058587 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1700T>C (p.Val567Ala) single nucleotide variant not provided [RCV003727617]|not specified [RCV000121239] Chr9:5072550 [GRCh38]
Chr9:5072550 [GRCh37]
Chr9:9p24.1		 uncertain significance|not provided
NM_004972.4(JAK2):c.2011C>T (p.His671Tyr) single nucleotide variant not provided [RCV003764843]|not specified [RCV000121240] Chr9:5078324 [GRCh38]
Chr9:5078324 [GRCh37]
Chr9:9p24.1		 uncertain significance|not provided
NM_004972.4(JAK2):c.2171T>C (p.Ile724Thr) single nucleotide variant JAK2-related condition [RCV003952602]|not provided [RCV002514642]|not specified [RCV000121241] Chr9:5080268 [GRCh38]
Chr9:5080268 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance|not provided
NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp) single nucleotide variant not provided [RCV002517591]|not specified [RCV000121242] Chr9:5081828 [GRCh38]
Chr9:5081828 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance|not provided
NM_004972.4(JAK2):c.2882G>C (p.Cys961Ser) single nucleotide variant not specified [RCV000121243] Chr9:5090566 [GRCh38]
Chr9:5090566 [GRCh37]
Chr9:9p24.1		 not provided
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) single nucleotide variant JAK2-related condition [RCV003915208]|Primary familial polycythemia due to EPO receptor mutation [RCV002492429]|not provided [RCV000892279]|not specified [RCV000121244] Chr9:5126343 [GRCh38]
Chr9:5126343 [GRCh37]
Chr9:9p24.1		 benign|likely benign|not provided
NM_004972.4(JAK2):c.3288T>A (p.Asp1096Glu) single nucleotide variant not provided [RCV000880871]|not specified [RCV000121245] Chr9:5126443 [GRCh38]
Chr9:5126443 [GRCh37]
Chr9:9p24.1		 benign|likely benign|not provided
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser) single nucleotide variant Thrombocythemia 3 [RCV001250552]|not provided [RCV000969040]|not specified [RCV000121246] Chr9:5126715 [GRCh38]
Chr9:5126715 [GRCh37]
Chr9:9p24.1		 benign|likely benign|uncertain significance|not provided
NM_004972.4(JAK2):c.406A>T (p.Ile136Leu) single nucleotide variant not specified [RCV000121247] Chr9:5044458 [GRCh38]
Chr9:5044458 [GRCh37]
Chr9:9p24.1		 not provided
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV002498567]|not provided [RCV000903128]|not specified [RCV000121248] Chr9:5044432 [GRCh38]
Chr9:5044432 [GRCh37]
Chr9:9p24.1		 benign|likely benign|not provided
NM_004972.4(JAK2):c.721A>C (p.Ser241Arg) single nucleotide variant not specified [RCV000121249] Chr9:5054669 [GRCh38]
Chr9:5054669 [GRCh37]
Chr9:9p24.1		 not provided
NM_004972.4(JAK2):c.718T>C (p.Phe240Leu) single nucleotide variant not specified [RCV000121250] Chr9:5054666 [GRCh38]
Chr9:5054666 [GRCh37]
Chr9:9p24.1		 not provided
NM_004972.4(JAK2):c.1009A>G (p.Asn337Asp) single nucleotide variant JAK2-related condition [RCV003945079]|not provided [RCV002515872]|not specified [RCV000121251] Chr9:5055741 [GRCh38]
Chr9:5055741 [GRCh37]
Chr9:9p24.1		 benign|likely benign|not provided
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) single nucleotide variant not provided [RCV000964504]|not specified [RCV000121252] Chr9:5065003 [GRCh38]
Chr9:5065003 [GRCh37]
Chr9:9p24.1		 benign|conflicting interpretations of pathogenicity|not provided
NM_004972.4(JAK2):c.1174G>A (p.Val392Met) single nucleotide variant not provided [RCV000891612]|not specified [RCV000121253] Chr9:5065000 [GRCh38]
Chr9:5065000 [GRCh37]
Chr9:9p24.1		 likely benign|not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.1(chr9:4768744-5426099)x3 copy number gain See cases [RCV000137871] Chr9:4768744..5426099 [GRCh38]
Chr9:4768744..5426099 [GRCh37]
Chr9:4758744..5416099 [NCBI36]
Chr9:9p24.1		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:5116731-5216903)x4 copy number gain See cases [RCV000140631] Chr9:5116731..5216903 [GRCh38]
Chr9:5116731..5216903 [GRCh37]
Chr9:5106731..5206903 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.1(chr9:5047233-5311643)x1 copy number loss See cases [RCV000142362] Chr9:5047233..5311643 [GRCh38]
Chr9:5047233..5311643 [GRCh37]
Chr9:5037233..5301643 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:4287179-5579213)x3 copy number gain Premature ovarian failure [RCV000225326] Chr9:4287179..5579213 [GRCh37]
Chr9:9p24.2-24.1		 benign
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_004972.4(JAK2):c.489C>T (p.His163=) single nucleotide variant not provided [RCV001643112]|not specified [RCV000456020] Chr9:5050706 [GRCh38]
Chr9:5050706 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.3(JAK2):c.*389T>C single nucleotide variant Budd-Chiari syndrome [RCV000320455] Chr9:5127180 [GRCh38]
Chr9:5127180 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2931G>A (p.Leu977=) single nucleotide variant not provided [RCV000950739] Chr9:5090783 [GRCh38]
Chr9:5090783 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance
NM_004972.3(JAK2):c.-135G>C single nucleotide variant Budd-Chiari syndrome [RCV000369944] Chr9:4985604 [GRCh38]
Chr9:4985604 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*34T>C single nucleotide variant Budd-Chiari syndrome [RCV000303489] Chr9:5126825 [GRCh38]
Chr9:5126825 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*122G>A single nucleotide variant Budd-Chiari syndrome [RCV000324057] Chr9:5126913 [GRCh38]
Chr9:5126913 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1326+15C>G single nucleotide variant not provided [RCV003854580] Chr9:5066804 [GRCh38]
Chr9:5066804 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_004972.3(JAK2):c.1470T>C (p.Asn490=) single nucleotide variant Budd-Chiari syndrome [RCV000371901] Chr9:5069165 [GRCh38]
Chr9:5069165 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1117T>C single nucleotide variant Budd-Chiari syndrome [RCV000270992] Chr9:5127908 [GRCh38]
Chr9:5127908 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-455C>T single nucleotide variant Budd-Chiari syndrome [RCV000286935] Chr9:4985284 [GRCh38]
Chr9:4985284 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1118T>C single nucleotide variant Budd-Chiari syndrome [RCV000326166] Chr9:5127909 [GRCh38]
Chr9:5127909 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2490G>A (p.Leu830=) single nucleotide variant not provided [RCV001643113]|not specified [RCV000454918] Chr9:5081780 [GRCh38]
Chr9:5081780 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.3(JAK2):c.*1185_*1187dup duplication Budd-Chiari syndrome [RCV000350490] Chr9:5127974..5127975 [GRCh38]
Chr9:5127974..5127975 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.337C>G (p.Leu113Val) single nucleotide variant not provided [RCV002932587] Chr9:5029893 [GRCh38]
Chr9:5029893 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_004972.3(JAK2):c.*1351T>C single nucleotide variant Budd-Chiari syndrome [RCV000272868] Chr9:5128142 [GRCh38]
Chr9:5128142 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-42C>T single nucleotide variant Budd-Chiari syndrome [RCV000307643] Chr9:4986006 [GRCh38]
Chr9:4986006 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-494C>T single nucleotide variant Budd-Chiari syndrome [RCV000379374] Chr9:4985245 [GRCh38]
Chr9:4985245 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3076C>A (p.Leu1026Met) single nucleotide variant not provided [RCV003833895] Chr9:5123020 [GRCh38]
Chr9:5123020 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.*1388_*1392dup duplication Budd-Chiari syndrome [RCV000309294] Chr9:5128175..5128176 [GRCh38]
Chr9:5128175..5128176 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1119G>T single nucleotide variant Budd-Chiari syndrome [RCV000380764] Chr9:5127910 [GRCh38]
Chr9:5127910 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3252T>C (p.Asn1084=) single nucleotide variant not provided [RCV003545600] Chr9:5126407 [GRCh38]
Chr9:5126407 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance
NM_004972.4(JAK2):c.*91TAT[1] microsatellite Budd-Chiari syndrome [RCV000259492] Chr9:5126880..5126882 [GRCh38]
Chr9:5126880..5126882 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.2196G>A (p.Leu732=) single nucleotide variant Budd-Chiari syndrome [RCV000292712] Chr9:5080293 [GRCh38]
Chr9:5080293 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_001322194.1(JAK2):c.*1291_*1292GT[17] microsatellite Budd-Chiari syndrome [RCV000404217] Chr9:5128081..5128086 [GRCh38]
Chr9:5128081..5128086 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.*1337T>C single nucleotide variant Budd-Chiari syndrome [RCV000358210] Chr9:5128128 [GRCh38]
Chr9:5128128 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-181A>G single nucleotide variant Budd-Chiari syndrome [RCV000406292] Chr9:4985558 [GRCh38]
Chr9:4985558 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.*1291GT[23] microsatellite Budd-Chiari syndrome [RCV000406688] Chr9:5128080..5128081 [GRCh38]
Chr9:5128080..5128081 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.-138C>T single nucleotide variant Budd-Chiari syndrome [RCV000312900] Chr9:4985601 [GRCh38]
Chr9:4985601 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-445C>T single nucleotide variant Budd-Chiari syndrome [RCV000334976] Chr9:4985294 [GRCh38]
Chr9:4985294 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.592C>T (p.Leu198=) single nucleotide variant not provided [RCV003736201] Chr9:5050809 [GRCh38]
Chr9:5050809 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance
NM_004972.3(JAK2):c.*560C>T single nucleotide variant Budd-Chiari syndrome [RCV000384234] Chr9:5127351 [GRCh38]
Chr9:5127351 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-109+10A>C single nucleotide variant Budd-Chiari syndrome [RCV000406583] Chr9:4985640 [GRCh38]
Chr9:4985640 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-423T>C single nucleotide variant Budd-Chiari syndrome [RCV000408359] Chr9:4985316 [GRCh38]
Chr9:4985316 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1145G>A single nucleotide variant Budd-Chiari syndrome [RCV000295555] Chr9:5127936 [GRCh38]
Chr9:5127936 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2762-10_2762-9del deletion Budd-Chiari syndrome [RCV000296118]|not provided [RCV003430974] Chr9:5090435..5090436 [GRCh38]
Chr9:5090435..5090436 [GRCh37]
Chr9:9p24.1		 benign|likely benign|uncertain significance
NM_004972.3(JAK2):c.*1289T>G single nucleotide variant Budd-Chiari syndrome [RCV000337745] Chr9:5128080 [GRCh38]
Chr9:5128080 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*158G>C single nucleotide variant Budd-Chiari syndrome [RCV000360043] Chr9:5126949 [GRCh38]
Chr9:5126949 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*52A>G single nucleotide variant Budd-Chiari syndrome [RCV000360618] Chr9:5126843 [GRCh38]
Chr9:5126843 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1185A>C single nucleotide variant Budd-Chiari syndrome [RCV000386386] Chr9:5127976 [GRCh38]
Chr9:5127976 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.-197T>C single nucleotide variant Budd-Chiari syndrome [RCV000338531] Chr9:4985542 [GRCh38]
Chr9:4985542 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.3(JAK2):c.-397G>C single nucleotide variant Budd-Chiari syndrome [RCV000281051] Chr9:4985342 [GRCh38]
Chr9:4985342 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.*1291GT[19] microsatellite Budd-Chiari syndrome [RCV000297888] Chr9:5128081..5128082 [GRCh38]
Chr9:5128081..5128082 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.3(JAK2):c.*1390T>G single nucleotide variant Budd-Chiari syndrome [RCV000364032] Chr9:5128181 [GRCh38]
Chr9:5128181 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu) single nucleotide variant not provided [RCV001794992]|not specified [RCV001822010] Chr9:5022130 [GRCh38]
Chr9:5022130 [GRCh37]
Chr9:9p24.1		 benign|likely benign|uncertain significance
NM_004972.3(JAK2):c.*317A>G single nucleotide variant Budd-Chiari syndrome [RCV000265269] Chr9:5127108 [GRCh38]
Chr9:5127108 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.*1288_*1289insGT insertion Budd-Chiari syndrome [RCV000282478] Chr9:5128078..5128079 [GRCh38]
Chr9:5128078..5128079 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1929T>C (p.Asn643=) single nucleotide variant JAK2-related condition [RCV003975848]|not provided [RCV001673284] Chr9:5077517 [GRCh38]
Chr9:5077517 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_004972.4(JAK2):c.3177G>A (p.Ala1059=) single nucleotide variant JAK2-related condition [RCV003926556]|not provided [RCV002928459] Chr9:5123121 [GRCh38]
Chr9:5123121 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_004972.3(JAK2):c.726A>G (p.Gln242=) single nucleotide variant Budd-Chiari syndrome [RCV000266408] Chr9:5054674 [GRCh38]
Chr9:5054674 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_001322194.1(JAK2):c.*1291_*1292GT[18] microsatellite Budd-Chiari syndrome [RCV000343465] Chr9:5128081..5128084 [GRCh38]
Chr9:5128081..5128084 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2586T>C (p.Ser862=) single nucleotide variant not provided [RCV000965096] Chr9:5089688 [GRCh38]
Chr9:5089688 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_004972.4(JAK2):c.2958C>T (p.Asn986=) single nucleotide variant not provided [RCV000906152] Chr9:5090810 [GRCh38]
Chr9:5090810 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) single nucleotide variant Premature ovarian failure [RCV001270212]|not provided [RCV003238314] Chr9:5044488 [GRCh38]
Chr9:5044488 [GRCh37]
Chr9:9p24.1		 pathogenic|uncertain significance
NM_004972.4(JAK2):c.2798C>A (p.Pro933Gln) single nucleotide variant SMALL ROUND CELL TUMOR [RCV000505541] Chr9:5090482 [GRCh38]
Chr9:5090482 [GRCh37]
Chr9:9p24.1		 other
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5126597-5185255)x3 copy number gain See cases [RCV000447268] Chr9:5126597..5185255 [GRCh37]
Chr9:9p24.1		 conflicting data from submitters
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000423852] Chr9:5078361 [GRCh38]
Chr9:5078361 [GRCh37]
Chr9:9p24.1		 pathogenic
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000434785]|Myeloproliferative disorder [RCV000443966] Chr9:5078360 [GRCh38]
Chr9:5078360 [GRCh37]
Chr9:9p24.1		 pathogenic|likely pathogenic
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn) single nucleotide variant Myeloproliferative disorder [RCV000435377] Chr9:5089726 [GRCh38]
Chr9:5089726 [GRCh37]
Chr9:9p24.1		 likely pathogenic
NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000443665] Chr9:5078362 [GRCh38]
Chr9:5078362 [GRCh37]
Chr9:9p24.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu) single nucleotide variant JAK2-related condition [RCV003418107]|Myeloproliferative disorder [RCV000418120]|not provided [RCV001356933] Chr9:5072541 [GRCh38]
Chr9:5072541 [GRCh37]
Chr9:9p24.1		 likely pathogenic|uncertain significance
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser) single nucleotide variant Lymphoblastic leukemia, acute, with lymphomatous features [RCV000433693] Chr9:5078362 [GRCh38]
Chr9:5078362 [GRCh37]
Chr9:9p24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004972.4(JAK2):c.1543_1546dup (p.Gly516fs) duplication not provided [RCV000660423] Chr9:5069952..5069953 [GRCh38]
Chr9:5069952..5069953 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.1(chr9:4883256-5037444)x1 copy number loss not provided [RCV000683087] Chr9:4883256..5037444 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:5020135-5243932)x3 copy number gain not provided [RCV000683096] Chr9:5020135..5243932 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NM_004972.4(JAK2):c.2571+5A>C single nucleotide variant Acquired polycythemia vera [RCV000709880]|not provided [RCV000927992] Chr9:5081866 [GRCh38]
Chr9:5081866 [GRCh37]
Chr9:9p24.1		 likely benign|not provided
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5087811-5223201)x3 copy number gain not provided [RCV000748134] Chr9:5087811..5223201 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5102910-5114522)x1 copy number loss not provided [RCV000748135] Chr9:5102910..5114522 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5107596-5230447)x3 copy number gain not provided [RCV000748136] Chr9:5107596..5230447 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5112844-5230447)x3 copy number gain not provided [RCV000748137] Chr9:5112844..5230447 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2167T>A (p.Cys723Ser) single nucleotide variant not provided [RCV000762550] Chr9:5080264 [GRCh38]
Chr9:5080264 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1458T>G (p.Val486=) single nucleotide variant not provided [RCV000967113]|not specified [RCV001819072] Chr9:5069153 [GRCh38]
Chr9:5069153 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.731A>G (p.Lys244Arg) single nucleotide variant JAK2-related condition [RCV003910711]|not provided [RCV000898706] Chr9:5054679 [GRCh38]
Chr9:5054679 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2988G>A (p.Gly996=) single nucleotide variant not provided [RCV000914405] Chr9:5090840 [GRCh38]
Chr9:5090840 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2434+7A>G single nucleotide variant not provided [RCV000901350] Chr9:5080690 [GRCh38]
Chr9:5080690 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1439G>T (p.Cys480Phe) single nucleotide variant not provided [RCV000906396] Chr9:5069134 [GRCh38]
Chr9:5069134 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.937-4A>G single nucleotide variant not provided [RCV000898443] Chr9:5055665 [GRCh38]
Chr9:5055665 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.468+9A>G single nucleotide variant not provided [RCV000922509] Chr9:5044529 [GRCh38]
Chr9:5044529 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2488C>T (p.Leu830=) single nucleotide variant JAK2-related condition [RCV003962872]|not provided [RCV000970683] Chr9:5081778 [GRCh38]
Chr9:5081778 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1327-9C>T single nucleotide variant not provided [RCV000981345] Chr9:5069013 [GRCh38]
Chr9:5069013 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3078G>A (p.Leu1026=) single nucleotide variant not provided [RCV000951279] Chr9:5123022 [GRCh38]
Chr9:5123022 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.546A>C (p.Ala182=) single nucleotide variant not provided [RCV000969994] Chr9:5050763 [GRCh38]
Chr9:5050763 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
t(3;9)(q13.31;p24.1) translocation Precursor B-cell acute lymphoblastic leukemia [RCV001030056] Chr3:114069121..114069122 [GRCh37]
Chr9:5081725..5081726 [GRCh37]
Chr3:3q13.31
Chr9:9p24.1		 likely pathogenic
NM_004972.4(JAK2):c.2674C>G (p.Leu892Val) single nucleotide variant not provided [RCV000977409] Chr9:5089776 [GRCh38]
Chr9:5089776 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2685T>C (p.Phe895=) single nucleotide variant not provided [RCV000921418] Chr9:5089787 [GRCh38]
Chr9:5089787 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1137A>G (p.Ala379=) single nucleotide variant not provided [RCV000979708] Chr9:5064963 [GRCh38]
Chr9:5064963 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1266G>C (p.Leu422=) single nucleotide variant not provided [RCV000893022]|not specified [RCV003151192] Chr9:5066729 [GRCh38]
Chr9:5066729 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1686C>T (p.Gly562=) single nucleotide variant not provided [RCV000900935] Chr9:5072536 [GRCh38]
Chr9:5072536 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1284T>C (p.Ser428=) single nucleotide variant not provided [RCV000961900]|not specified [RCV001819035] Chr9:5066747 [GRCh38]
Chr9:5066747 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_004972.4(JAK2):c.1514-88G>A single nucleotide variant not provided [RCV001643417] Chr9:5069837 [GRCh38]
Chr9:5069837 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2712C>A (p.Ser904=) single nucleotide variant JAK2-related condition [RCV003972984]|not provided [RCV000981346] Chr9:5089814 [GRCh38]
Chr9:5089814 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_004972.4(JAK2):c.3060-72A>G single nucleotide variant not provided [RCV001608433]|not specified [RCV003487508] Chr9:5122932 [GRCh38]
Chr9:5122932 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1056+249A>G single nucleotide variant not provided [RCV001688407] Chr9:5056037 [GRCh38]
Chr9:5056037 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1215-223T>C single nucleotide variant not provided [RCV001696401] Chr9:5066455 [GRCh38]
Chr9:5066455 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1327-267T>G single nucleotide variant not provided [RCV001674894] Chr9:5068755 [GRCh38]
Chr9:5068755 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.579C>T (p.Asn193=) single nucleotide variant JAK2-related condition [RCV003940763]|not provided [RCV000894930] Chr9:5050796 [GRCh38]
Chr9:5050796 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_004972.4(JAK2):c.1455T>C (p.Thr485=) single nucleotide variant not provided [RCV000919183] Chr9:5069150 [GRCh38]
Chr9:5069150 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1323C>T (p.Val441=) single nucleotide variant not provided [RCV000885665]|not specified [RCV001817097] Chr9:5066786 [GRCh38]
Chr9:5066786 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_004972.4(JAK2):c.351-6T>C single nucleotide variant not provided [RCV000911670] Chr9:5044397 [GRCh38]
Chr9:5044397 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3378A>C (p.Ile1126=) single nucleotide variant JAK2-related condition [RCV003902891]|not provided [RCV000911444] Chr9:5126770 [GRCh38]
Chr9:5126770 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1359G>A (p.Leu453=) single nucleotide variant not provided [RCV000890539] Chr9:5069054 [GRCh38]
Chr9:5069054 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.350+174T>C single nucleotide variant not provided [RCV001721760] Chr9:5030080 [GRCh38]
Chr9:5030080 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1776+220G>A single nucleotide variant not provided [RCV001656470] Chr9:5072846 [GRCh38]
Chr9:5072846 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.2-24.1(chr9:4386288-5003101)x1 copy number loss not provided [RCV002473595] Chr9:4386288..5003101 [GRCh37]
Chr9:9p24.2-24.1		 uncertain significance
GRCh37/hg19 9p24.2-24.1(chr9:4363670-5094461)x3 copy number gain not provided [RCV001006189] Chr9:4363670..5094461 [GRCh37]
Chr9:9p24.2-24.1		 uncertain significance
NM_004972.4(JAK2):c.1642-310C>T single nucleotide variant not provided [RCV001688986] Chr9:5072182 [GRCh38]
Chr9:5072182 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1776+172T>C single nucleotide variant not provided [RCV001637749] Chr9:5072798 [GRCh38]
Chr9:5072798 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2571+245G>T single nucleotide variant not provided [RCV001620887] Chr9:5082106 [GRCh38]
Chr9:5082106 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.614+79C>T single nucleotide variant not provided [RCV001654187] Chr9:5050910 [GRCh38]
Chr9:5050910 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3291+96T>G single nucleotide variant not provided [RCV001640966] Chr9:5126542 [GRCh38]
Chr9:5126542 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.469-317G>C single nucleotide variant not provided [RCV001667225] Chr9:5050369 [GRCh38]
Chr9:5050369 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2435-140A>G single nucleotide variant not provided [RCV001668032] Chr9:5081585 [GRCh38]
Chr9:5081585 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2886+71G>A single nucleotide variant not provided [RCV001710783]|not specified [RCV003487739] Chr9:5090641 [GRCh38]
Chr9:5090641 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.937-235C>T single nucleotide variant not provided [RCV001696561] Chr9:5055434 [GRCh38]
Chr9:5055434 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3059+23A>T single nucleotide variant not provided [RCV001682285]|not specified [RCV003487685] Chr9:5090934 [GRCh38]
Chr9:5090934 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) single nucleotide variant Acquired polycythemia vera [RCV001650485] Chr9:5072544 [GRCh38]
Chr9:5072544 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:5110389-5213986)x1 copy number loss not provided [RCV001260079] Chr9:5110389..5213986 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_004972.4(JAK2):c.1993-260G>C single nucleotide variant not provided [RCV001538551] Chr9:5078046 [GRCh38]
Chr9:5078046 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2662A>T (p.Thr888Ser) single nucleotide variant not provided [RCV001543681] Chr9:5089764 [GRCh38]
Chr9:5089764 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_004972.4(JAK2):c.2175A>G (p.Glu725=) single nucleotide variant Thrombocythemia 3 [RCV001333327] Chr9:5080272 [GRCh38]
Chr9:5080272 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NC_000009.11:g.(?_2029023)_(5300444_?)dup duplication not provided [RCV001346810] Chr9:2029023..5300444 [GRCh37]
Chr9:9p24.3-24.1		 uncertain significance
NM_004972.4(JAK2):c.1641+6T>C single nucleotide variant Acquired polycythemia vera [RCV001329986]|JAK2-related condition [RCV003945999]|Primary familial polycythemia due to EPO receptor mutation [RCV002499649]|not provided [RCV002546365] Chr9:5070058 [GRCh38]
Chr9:5070058 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_004972.4(JAK2):c.1759C>A (p.His587Asn) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374565] Chr9:5072609 [GRCh38]
Chr9:5072609 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.909_910del (p.His303fs) deletion Thrombocythemia 3 [RCV001333328] Chr9:5054856..5054857 [GRCh38]
Chr9:5054856..5054857 [GRCh37]
Chr9:9p24.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
NM_004972.4(JAK2):c.1993-189T>C single nucleotide variant not provided [RCV001536135] Chr9:5078117 [GRCh38]
Chr9:5078117 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.936+131C>T single nucleotide variant not provided [RCV001684455] Chr9:5055015 [GRCh38]
Chr9:5055015 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.-25-225G>A single nucleotide variant not provided [RCV001652208] Chr9:5021738 [GRCh38]
Chr9:5021738 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2434+227_2434+230del deletion not provided [RCV001687690] Chr9:5080893..5080896 [GRCh38]
Chr9:5080893..5080896 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3269G>A (p.Arg1090Lys) single nucleotide variant not specified [RCV002247909] Chr9:5126424 [GRCh38]
Chr9:5126424 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2852T>C (p.Ile951Thr) single nucleotide variant not provided [RCV003106820] Chr9:5090536 [GRCh38]
Chr9:5090536 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3178-12_3178-11insC insertion not provided [RCV002544199] Chr9:5126321..5126322 [GRCh38]
Chr9:5126321..5126322 [GRCh37]
Chr9:9p24.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004972.4(JAK2):c.980G>T (p.Ser327Ile) single nucleotide variant not provided [RCV003238392] Chr9:5055712 [GRCh38]
Chr9:5055712 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser) single nucleotide variant Adrenal cortex carcinoma [RCV001815146] Chr9:5080634 [GRCh38]
Chr9:5080634 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1710C>T (p.Tyr570=) single nucleotide variant not provided [RCV002542500]|not specified [RCV001822232] Chr9:5072560 [GRCh38]
Chr9:5072560 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser) single nucleotide variant not provided [RCV002074263]|not specified [RCV001822233] Chr9:5072561 [GRCh38]
Chr9:5072561 [GRCh37]
Chr9:9p24.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004972.4(JAK2):c.*4A>C single nucleotide variant not provided [RCV003426202]|not specified [RCV001822234] Chr9:5126795 [GRCh38]
Chr9:5126795 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.176C>G (p.Ser59Cys) single nucleotide variant not specified [RCV001822470] Chr9:5022163 [GRCh38]
Chr9:5022163 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1666T>G (p.Phe556Val) single nucleotide variant not specified [RCV001818032] Chr9:5072516 [GRCh38]
Chr9:5072516 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.995A>G (p.Asn332Ser) single nucleotide variant Inborn genetic diseases [RCV003289102]|not specified [RCV001822450] Chr9:5055727 [GRCh38]
Chr9:5055727 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.931G>A (p.Glu311Lys) single nucleotide variant not specified [RCV001822668] Chr9:5054879 [GRCh38]
Chr9:5054879 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3162T>A (p.Ser1054Arg) single nucleotide variant not specified [RCV001822752] Chr9:5123106 [GRCh38]
Chr9:5123106 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NC_000009.11:g.(?_5021988)_(5126791_?)dup duplication not provided [RCV003113619] Chr9:5021988..5126791 [GRCh37]
Chr9:9p24.1		 uncertain significance
NC_000009.11:g.(?_3828272)_(5126791_?)del deletion not provided [RCV003113729] Chr9:3828272..5126791 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
NM_004972.4(JAK2):c.227-4C>G single nucleotide variant not provided [RCV003121757] Chr9:5029779 [GRCh38]
Chr9:5029779 [GRCh37]
Chr9:9p24.1		 likely benign
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
NM_004972.4(JAK2):c.682C>T (p.Arg228Ter) single nucleotide variant not provided [RCV002275751] Chr9:5054630 [GRCh38]
Chr9:5054630 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
Single allele duplication not provided [RCV002266756] Chr9:4954044..5872261 [GRCh38]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2444T>C (p.Leu815Pro) single nucleotide variant Thrombocythemia 3 [RCV002294576] Chr9:5081734 [GRCh38]
Chr9:5081734 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_004972.4(JAK2):c.226+1G>T single nucleotide variant See cases [RCV003232939] Chr9:5022214 [GRCh38]
Chr9:5022214 [GRCh37]
Chr9:9p24.1		 likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
GRCh37/hg19 9p24.1(chr9:4961260-5071508)x1 copy number loss Syndromic anorectal malformation [RCV002286603] Chr9:4961260..5071508 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
NM_004972.4(JAK2):c.3324T>G (p.Asn1108Lys) single nucleotide variant Inborn genetic diseases [RCV003299786] Chr9:5126716 [GRCh38]
Chr9:5126716 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2651T>G (p.Leu884Arg) single nucleotide variant Thrombocythemia 3 [RCV003131291] Chr9:5089753 [GRCh38]
Chr9:5089753 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1153A>G (p.Lys385Glu) single nucleotide variant not specified [RCV003151546] Chr9:5064979 [GRCh38]
Chr9:5064979 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
NM_004972.4(JAK2):c.1822C>G (p.His608Asp) single nucleotide variant Thrombocythemia 3 [RCV002467430] Chr9:5073743 [GRCh38]
Chr9:5073743 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2776A>G (p.Lys926Glu) single nucleotide variant not provided [RCV002305910] Chr9:5090460 [GRCh38]
Chr9:5090460 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.181G>A (p.Glu61Lys) single nucleotide variant not provided [RCV002308886] Chr9:5022168 [GRCh38]
Chr9:5022168 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2850C>T (p.His950=) single nucleotide variant not provided [RCV002995190] Chr9:5090534 [GRCh38]
Chr9:5090534 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1864+18C>A single nucleotide variant not provided [RCV003033400] Chr9:5073803 [GRCh38]
Chr9:5073803 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2132-17T>C single nucleotide variant not provided [RCV002858427] Chr9:5080212 [GRCh38]
Chr9:5080212 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2463G>T (p.Met821Ile) single nucleotide variant Inborn genetic diseases [RCV002730041] Chr9:5081753 [GRCh38]
Chr9:5081753 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.365G>A (p.Arg122His) single nucleotide variant Inborn genetic diseases [RCV002730019] Chr9:5044417 [GRCh38]
Chr9:5044417 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.469-16A>C single nucleotide variant not provided [RCV002755146] Chr9:5050670 [GRCh38]
Chr9:5050670 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2722G>C (p.Asp908His) single nucleotide variant not provided [RCV002842816] Chr9:5089824 [GRCh38]
Chr9:5089824 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2866T>C (p.Tyr956His) single nucleotide variant not provided [RCV002636073] Chr9:5090550 [GRCh38]
Chr9:5090550 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1936A>C (p.Asn646His) single nucleotide variant Inborn genetic diseases [RCV002730040]|not provided [RCV003778608] Chr9:5077524 [GRCh38]
Chr9:5077524 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.468+20C>T single nucleotide variant not provided [RCV002775966] Chr9:5044540 [GRCh38]
Chr9:5044540 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2863C>G (p.Gln955Glu) single nucleotide variant Inborn genetic diseases [RCV002860413] Chr9:5090547 [GRCh38]
Chr9:5090547 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.979A>C (p.Ser327Arg) single nucleotide variant Inborn genetic diseases [RCV002863992] Chr9:5055711 [GRCh38]
Chr9:5055711 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:4604171-5491331)x3 copy number gain not provided [RCV002475842] Chr9:4604171..5491331 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2155G>A (p.Val719Ile) single nucleotide variant Inborn genetic diseases [RCV002879866]|not provided [RCV003777903] Chr9:5080252 [GRCh38]
Chr9:5080252 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1993-16C>T single nucleotide variant not provided [RCV002771071] Chr9:5078290 [GRCh38]
Chr9:5078290 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2669A>G (p.Glu890Gly) single nucleotide variant not provided [RCV002903971] Chr9:5089771 [GRCh38]
Chr9:5089771 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.596C>T (p.Ala199Val) single nucleotide variant not provided [RCV002740500] Chr9:5050813 [GRCh38]
Chr9:5050813 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.137C>A (p.Ser46Tyr) single nucleotide variant Inborn genetic diseases [RCV002643708]|not provided [RCV002621061] Chr9:5022124 [GRCh38]
Chr9:5022124 [GRCh37]
Chr9:9p24.1		 benign|uncertain significance
NM_004972.4(JAK2):c.469-1G>C single nucleotide variant not provided [RCV002871395] Chr9:5050685 [GRCh38]
Chr9:5050685 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3130C>G (p.Leu1044Val) single nucleotide variant Inborn genetic diseases [RCV002762412] Chr9:5123074 [GRCh38]
Chr9:5123074 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2698G>C (p.Glu900Gln) single nucleotide variant Inborn genetic diseases [RCV002739039] Chr9:5089800 [GRCh38]
Chr9:5089800 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.915_918del (p.Ser306fs) deletion not provided [RCV002761365] Chr9:5054863..5054866 [GRCh38]
Chr9:5054863..5054866 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.350+11_350+22del deletion not provided [RCV002593124] Chr9:5029917..5029928 [GRCh38]
Chr9:5029917..5029928 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1864+14C>T single nucleotide variant not provided [RCV002781100] Chr9:5073799 [GRCh38]
Chr9:5073799 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3059+16T>A single nucleotide variant not provided [RCV002867089] Chr9:5090927 [GRCh38]
Chr9:5090927 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1993-20T>C single nucleotide variant not provided [RCV002781424] Chr9:5078286 [GRCh38]
Chr9:5078286 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2359T>A (p.Cys787Ser) single nucleotide variant not provided [RCV002691024] Chr9:5080608 [GRCh38]
Chr9:5080608 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1777-7del deletion not provided [RCV002569957] Chr9:5073682 [GRCh38]
Chr9:5073682 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.3255T>A (p.Asn1085Lys) single nucleotide variant not provided [RCV002638713] Chr9:5126410 [GRCh38]
Chr9:5126410 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1042G>C (p.Asp348His) single nucleotide variant Inborn genetic diseases [RCV002738163] Chr9:5055774 [GRCh38]
Chr9:5055774 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2283+12T>C single nucleotide variant not provided [RCV002570025] Chr9:5080392 [GRCh38]
Chr9:5080392 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2919C>G (p.Ile973Met) single nucleotide variant not provided [RCV003019389] Chr9:5090771 [GRCh38]
Chr9:5090771 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2762-17C>T single nucleotide variant not provided [RCV002690661] Chr9:5090429 [GRCh38]
Chr9:5090429 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2188T>A (p.Leu730Ile) single nucleotide variant Inborn genetic diseases [RCV002738999] Chr9:5080285 [GRCh38]
Chr9:5080285 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3291+8T>C single nucleotide variant not provided [RCV002948705] Chr9:5126454 [GRCh38]
Chr9:5126454 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2477G>A (p.Arg826Lys) single nucleotide variant Inborn genetic diseases [RCV002739069] Chr9:5081767 [GRCh38]
Chr9:5081767 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2271G>A (p.Leu757=) single nucleotide variant not provided [RCV002760686] Chr9:5080368 [GRCh38]
Chr9:5080368 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.289C>G (p.Pro97Ala) single nucleotide variant Inborn genetic diseases [RCV002739079] Chr9:5029845 [GRCh38]
Chr9:5029845 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2571+14A>G single nucleotide variant not provided [RCV003038575] Chr9:5081875 [GRCh38]
Chr9:5081875 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3291+6A>C single nucleotide variant JAK2-related condition [RCV003963455]|not provided [RCV002952747] Chr9:5126452 [GRCh38]
Chr9:5126452 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1726A>G (p.Thr576Ala) single nucleotide variant not provided [RCV002659277] Chr9:5072576 [GRCh38]
Chr9:5072576 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3076C>G (p.Leu1026Val) single nucleotide variant Inborn genetic diseases [RCV002798636] Chr9:5123020 [GRCh38]
Chr9:5123020 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2516G>C (p.Arg839Pro) single nucleotide variant Inborn genetic diseases [RCV002596672]|not provided [RCV002584303] Chr9:5081806 [GRCh38]
Chr9:5081806 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.642T>C (p.Ile214=) single nucleotide variant not provided [RCV002893934] Chr9:5054590 [GRCh38]
Chr9:5054590 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1249G>A (p.Gly417Ser) single nucleotide variant not provided [RCV002918950] Chr9:5066712 [GRCh38]
Chr9:5066712 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2572-13A>G single nucleotide variant not provided [RCV002575278] Chr9:5089661 [GRCh38]
Chr9:5089661 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1019G>A (p.Arg340Gln) single nucleotide variant not provided [RCV002593612] Chr9:5055751 [GRCh38]
Chr9:5055751 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1860C>T (p.Asp620=) single nucleotide variant not provided [RCV003082697] Chr9:5073781 [GRCh38]
Chr9:5073781 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1514-17G>A single nucleotide variant not provided [RCV002786626] Chr9:5069908 [GRCh38]
Chr9:5069908 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1624_1629del (p.Asn542_Glu543del) deletion not provided [RCV003005701] Chr9:5070034..5070039 [GRCh38]
Chr9:5070034..5070039 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2132-15C>T single nucleotide variant not provided [RCV002786745] Chr9:5080214 [GRCh38]
Chr9:5080214 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.1138C>T (p.His380Tyr) single nucleotide variant Inborn genetic diseases [RCV002892196] Chr9:5064964 [GRCh38]
Chr9:5064964 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2577T>C (p.Asn859=) single nucleotide variant not provided [RCV003082580] Chr9:5089679 [GRCh38]
Chr9:5089679 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2028C>T (p.Ala676=) single nucleotide variant not provided [RCV003025176] Chr9:5078341 [GRCh38]
Chr9:5078341 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1542G>A (p.Thr514=) single nucleotide variant not provided [RCV003085299] Chr9:5069953 [GRCh38]
Chr9:5069953 [GRCh37]
Chr9:9p24.1		 benign|likely benign
NM_004972.4(JAK2):c.2695A>G (p.Ile899Val) single nucleotide variant Inborn genetic diseases [RCV002984662] Chr9:5089797 [GRCh38]
Chr9:5089797 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3244T>C (p.Leu1082=) single nucleotide variant not provided [RCV002700104] Chr9:5126399 [GRCh38]
Chr9:5126399 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2767C>T (p.Arg923Cys) single nucleotide variant not provided [RCV002624128] Chr9:5090451 [GRCh38]
Chr9:5090451 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3132G>C (p.Leu1044=) single nucleotide variant not provided [RCV003025552] Chr9:5123076 [GRCh38]
Chr9:5123076 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3291+14T>C single nucleotide variant not provided [RCV002791034] Chr9:5126460 [GRCh38]
Chr9:5126460 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2600G>A (p.Arg867Gln) single nucleotide variant not provided [RCV003058210] Chr9:5089702 [GRCh38]
Chr9:5089702 [GRCh37]
Chr9:9p24.1		 likely pathogenic
NM_004972.4(JAK2):c.351-4G>A single nucleotide variant not provided [RCV002575882] Chr9:5044399 [GRCh38]
Chr9:5044399 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.614+9C>G single nucleotide variant not provided [RCV002632900] Chr9:5050840 [GRCh38]
Chr9:5050840 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2696T>C (p.Ile899Thr) single nucleotide variant JAK2-related condition [RCV003943668]|not provided [RCV002967239] Chr9:5089798 [GRCh38]
Chr9:5089798 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_004972.4(JAK2):c.350+6T>C single nucleotide variant not provided [RCV003029914] Chr9:5029912 [GRCh38]
Chr9:5029912 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1545T>C (p.Asn515=) single nucleotide variant not provided [RCV002581318] Chr9:5069956 [GRCh38]
Chr9:5069956 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2762-9T>C single nucleotide variant not provided [RCV002649543] Chr9:5090437 [GRCh38]
Chr9:5090437 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2670G>A (p.Glu890=) single nucleotide variant not provided [RCV003027998] Chr9:5089772 [GRCh38]
Chr9:5089772 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2681A>G (p.Asp894Gly) single nucleotide variant JAK2-related condition [RCV003936485]|not provided [RCV002988834] Chr9:5089783 [GRCh38]
Chr9:5089783 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3030A>C (p.Val1010=) single nucleotide variant not provided [RCV002630441] Chr9:5090882 [GRCh38]
Chr9:5090882 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1459C>T (p.Arg487Cys) single nucleotide variant not provided [RCV003061005] Chr9:5069154 [GRCh38]
Chr9:5069154 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.322A>G (p.Thr108Ala) single nucleotide variant not provided [RCV003062193] Chr9:5029878 [GRCh38]
Chr9:5029878 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1642-20T>G single nucleotide variant not provided [RCV002630349] Chr9:5072472 [GRCh38]
Chr9:5072472 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.838T>C (p.Ser280Pro) single nucleotide variant not provided [RCV002835162] Chr9:5054786 [GRCh38]
Chr9:5054786 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1691G>A (p.Arg564Gln) single nucleotide variant not provided [RCV003062194] Chr9:5072541 [GRCh38]
Chr9:5072541 [GRCh37]
Chr9:9p24.1		 likely pathogenic|uncertain significance
NM_004972.4(JAK2):c.2069G>C (p.Gly690Ala) single nucleotide variant Inborn genetic diseases [RCV002792857]|not provided [RCV003777770] Chr9:5078382 [GRCh38]
Chr9:5078382 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.937-16A>G single nucleotide variant not provided [RCV002600835] Chr9:5055653 [GRCh38]
Chr9:5055653 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1776+19T>C single nucleotide variant not provided [RCV002582977] Chr9:5072645 [GRCh38]
Chr9:5072645 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2071A>C (p.Asn691His) single nucleotide variant JAK2-related condition [RCV003420364]|not provided [RCV002603512] Chr9:5078384 [GRCh38]
Chr9:5078384 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.936+13G>A single nucleotide variant not provided [RCV002582851] Chr9:5054897 [GRCh38]
Chr9:5054897 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.328C>T (p.His110Tyr) single nucleotide variant not provided [RCV002583517] Chr9:5029884 [GRCh38]
Chr9:5029884 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.226+5G>A single nucleotide variant not provided [RCV003070388] Chr9:5022218 [GRCh38]
Chr9:5022218 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.104T>C (p.Ile35Thr) single nucleotide variant not provided [RCV002603513] Chr9:5022091 [GRCh38]
Chr9:5022091 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1665T>C (p.Thr555=) single nucleotide variant not provided [RCV002635707] Chr9:5072515 [GRCh38]
Chr9:5072515 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1818C>A (p.His606Gln) single nucleotide variant not provided [RCV002583971] Chr9:5073739 [GRCh38]
Chr9:5073739 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.914A>C (p.Glu305Ala) single nucleotide variant not provided [RCV003049518] Chr9:5054862 [GRCh38]
Chr9:5054862 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1096G>A (p.Val366Met) single nucleotide variant JAK2-related condition [RCV003418857] Chr9:5064922 [GRCh38]
Chr9:5064922 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2467C>G (p.Pro823Ala) single nucleotide variant Inborn genetic diseases [RCV003280391] Chr9:5081757 [GRCh38]
Chr9:5081757 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2508del (p.Phe836fs) deletion not provided [RCV003319746] Chr9:5081796 [GRCh38]
Chr9:5081796 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.94A>G (p.Met32Val) single nucleotide variant Thrombocythemia 3 [RCV003337754] Chr9:5022081 [GRCh38]
Chr9:5022081 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1054C>T (p.Leu352=) single nucleotide variant Thrombocythemia 3 [RCV003337753] Chr9:5055786 [GRCh38]
Chr9:5055786 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3311A>C (p.Glu1104Ala) single nucleotide variant Thrombocythemia 3 [RCV003340944] Chr9:5126703 [GRCh38]
Chr9:5126703 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2893G>A (p.Glu965Lys) single nucleotide variant Inborn genetic diseases [RCV003358916] Chr9:5090745 [GRCh38]
Chr9:5090745 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.176C>T (p.Ser59Phe) single nucleotide variant Inborn genetic diseases [RCV003344698] Chr9:5022163 [GRCh38]
Chr9:5022163 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3173C>G (p.Pro1058Arg) single nucleotide variant not provided [RCV003569429] Chr9:5123117 [GRCh38]
Chr9:5123117 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1057G>A (p.Glu353Lys) single nucleotide variant Thrombocythemia 3 [RCV003445301] Chr9:5064883 [GRCh38]
Chr9:5064883 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.229A>G (p.Ile77Val) single nucleotide variant not provided [RCV003568925] Chr9:5029785 [GRCh38]
Chr9:5029785 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.844GAG[1] (p.Glu283del) microsatellite JAK2-related condition [RCV003402695] Chr9:5054792..5054794 [GRCh38]
Chr9:5054792..5054794 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1471A>G (p.Ile491Val) single nucleotide variant JAK2-related condition [RCV003397657] Chr9:5069166 [GRCh38]
Chr9:5069166 [GRCh37]
Chr9:9p24.1		 uncertain significance
NC_000009.11:g.(5090912_5123003)_(5129949_?)dup duplication not specified [RCV003479779] Chr9:5123003..5129949 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1337T>G (p.Val446Gly) single nucleotide variant not provided [RCV003435694] Chr9:5069032 [GRCh38]
Chr9:5069032 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3060-8380G>C single nucleotide variant not provided [RCV003435699] Chr9:5114624 [GRCh38]
Chr9:5114624 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004972.4(JAK2):c.1767C>A (p.Asn589Lys) single nucleotide variant JAK2-related condition [RCV003404374]|not provided [RCV003427785] Chr9:5072617 [GRCh38]
Chr9:5072617 [GRCh37]
Chr9:9p24.1		 uncertain significance
NC_000009.11:g.(4985631_4985939)_(5090912_5123003)dup duplication not specified [RCV003479679] Chr9:4985939..5090912 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1407G>T (p.Lys469Asn) single nucleotide variant JAK2-related condition [RCV003403006]|not provided [RCV003689087] Chr9:5069102 [GRCh38]
Chr9:5069102 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2582G>A (p.Gly861Glu) single nucleotide variant JAK2-related condition [RCV003404521] Chr9:5089684 [GRCh38]
Chr9:5089684 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3060-8884G>A single nucleotide variant not provided [RCV003435697] Chr9:5114120 [GRCh38]
Chr9:5114120 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.743G>C (p.Arg248Thr) single nucleotide variant JAK2-related condition [RCV003412096] Chr9:5054691 [GRCh38]
Chr9:5054691 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2755A>T (p.Ser919Cys) single nucleotide variant Thrombocythemia 3 [RCV003444441] Chr9:5089857 [GRCh38]
Chr9:5089857 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2279A>C (p.Gln760Pro) single nucleotide variant not provided [RCV003435695] Chr9:5080376 [GRCh38]
Chr9:5080376 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3060-9020del deletion not provided [RCV003435696] Chr9:5113983 [GRCh38]
Chr9:5113983 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3060-8746G>A single nucleotide variant not provided [RCV003435698] Chr9:5114258 [GRCh38]
Chr9:5114258 [GRCh37]
Chr9:9p24.1		 benign
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_004972.4(JAK2):c.2186A>T (p.Asn729Ile) single nucleotide variant JAK2-related condition [RCV003410492] Chr9:5080283 [GRCh38]
Chr9:5080283 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2768G>A (p.Arg923His) single nucleotide variant JAK2-related condition [RCV003410725] Chr9:5090452 [GRCh38]
Chr9:5090452 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2557C>T (p.Gln853Ter) single nucleotide variant JAK2-related condition [RCV003408345] Chr9:5081847 [GRCh38]
Chr9:5081847 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.827G>C (p.Gly276Ala) single nucleotide variant JAK2-related condition [RCV003414097] Chr9:5054775 [GRCh38]
Chr9:5054775 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2483G>A (p.Gly828Asp) single nucleotide variant not provided [RCV003695316] Chr9:5081773 [GRCh38]
Chr9:5081773 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2435-14C>A single nucleotide variant not provided [RCV003849013] Chr9:5081711 [GRCh38]
Chr9:5081711 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2437T>A (p.Tyr813Asn) single nucleotide variant not provided [RCV003572605] Chr9:5081727 [GRCh38]
Chr9:5081727 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1328del (p.Arg443fs) deletion not provided [RCV003572899] Chr9:5069023 [GRCh38]
Chr9:5069023 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1187T>C (p.Ile396Thr) single nucleotide variant not provided [RCV003739209] Chr9:5065013 [GRCh38]
Chr9:5065013 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.700C>T (p.Arg234Cys) single nucleotide variant not provided [RCV003831615] Chr9:5054648 [GRCh38]
Chr9:5054648 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1542G>T (p.Thr514=) single nucleotide variant not provided [RCV003578802] Chr9:5069953 [GRCh38]
Chr9:5069953 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2434+18C>A single nucleotide variant not provided [RCV003880920] Chr9:5080701 [GRCh38]
Chr9:5080701 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.614+19T>C single nucleotide variant not provided [RCV003716540] Chr9:5050850 [GRCh38]
Chr9:5050850 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1530A>G (p.Leu510=) single nucleotide variant not provided [RCV003879957] Chr9:5069941 [GRCh38]
Chr9:5069941 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2670G>C (p.Glu890Asp) single nucleotide variant not provided [RCV003690466] Chr9:5089772 [GRCh38]
Chr9:5089772 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.937-1G>C single nucleotide variant not provided [RCV003545505] Chr9:5055668 [GRCh38]
Chr9:5055668 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3123A>G (p.Gly1041=) single nucleotide variant not provided [RCV003689903] Chr9:5123067 [GRCh38]
Chr9:5123067 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.496A>G (p.Ile166Val) single nucleotide variant not provided [RCV003875831] Chr9:5050713 [GRCh38]
Chr9:5050713 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1828G>C (p.Val610Leu) single nucleotide variant not provided [RCV003715488] Chr9:5073749 [GRCh38]
Chr9:5073749 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.831T>G (p.Ser277Arg) single nucleotide variant not provided [RCV003880764] Chr9:5054779 [GRCh38]
Chr9:5054779 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3178-7_3178-4del microsatellite not provided [RCV003661173] Chr9:5126322..5126325 [GRCh38]
Chr9:5126322..5126325 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.574G>A (p.Glu192Lys) single nucleotide variant not provided [RCV003695034] Chr9:5050791 [GRCh38]
Chr9:5050791 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2415T>C (p.Leu805=) single nucleotide variant not provided [RCV003659940] Chr9:5080664 [GRCh38]
Chr9:5080664 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1389C>T (p.Asn463=) single nucleotide variant not provided [RCV003877081] Chr9:5069084 [GRCh38]
Chr9:5069084 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2762-13T>A single nucleotide variant not provided [RCV003825691] Chr9:5090433 [GRCh38]
Chr9:5090433 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.594G>A (p.Leu198=) single nucleotide variant not provided [RCV003695035] Chr9:5050811 [GRCh38]
Chr9:5050811 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3223G>A (p.Val1075Met) single nucleotide variant not provided [RCV003693176] Chr9:5126378 [GRCh38]
Chr9:5126378 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2886+1_2886+27dup duplication not provided [RCV003739856] Chr9:5090570..5090571 [GRCh38]
Chr9:5090570..5090571 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2761+9C>A single nucleotide variant not provided [RCV003575640] Chr9:5089872 [GRCh38]
Chr9:5089872 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1215-16T>G single nucleotide variant not provided [RCV003827485] Chr9:5066662 [GRCh38]
Chr9:5066662 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1428T>A (p.Asp476Glu) single nucleotide variant not provided [RCV003715699] Chr9:5069123 [GRCh38]
Chr9:5069123 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2431C>A (p.Pro811Thr) single nucleotide variant not provided [RCV003836149] Chr9:5080680 [GRCh38]
Chr9:5080680 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1095C>T (p.Phe365=) single nucleotide variant not provided [RCV003717114] Chr9:5064921 [GRCh38]
Chr9:5064921 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.490G>A (p.Gly164Arg) single nucleotide variant not provided [RCV003851407] Chr9:5050707 [GRCh38]
Chr9:5050707 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1563A>C (p.Pro521=) single nucleotide variant not provided [RCV003851902] Chr9:5069974 [GRCh38]
Chr9:5069974 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.759G>A (p.Lys253=) single nucleotide variant not provided [RCV003726330] Chr9:5054707 [GRCh38]
Chr9:5054707 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1993-5A>G single nucleotide variant not provided [RCV003668499] Chr9:5078301 [GRCh38]
Chr9:5078301 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.188T>C (p.Val63Ala) single nucleotide variant not provided [RCV003856654] Chr9:5022175 [GRCh38]
Chr9:5022175 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.351-13del deletion not provided [RCV003699588] Chr9:5044386 [GRCh38]
Chr9:5044386 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.900A>T (p.Arg300Ser) single nucleotide variant not provided [RCV003673819] Chr9:5054848 [GRCh38]
Chr9:5054848 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1034A>G (p.His345Arg) single nucleotide variant not provided [RCV003663748] Chr9:5055766 [GRCh38]
Chr9:5055766 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1270G>A (p.Val424Ile) single nucleotide variant not provided [RCV003549787] Chr9:5066733 [GRCh38]
Chr9:5066733 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.701G>A (p.Arg234His) single nucleotide variant not provided [RCV003833353] Chr9:5054649 [GRCh38]
Chr9:5054649 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3292A>G (p.Ile1098Val) single nucleotide variant not provided [RCV003816337] Chr9:5126684 [GRCh38]
Chr9:5126684 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1865-19T>A single nucleotide variant not provided [RCV003836038] Chr9:5077434 [GRCh38]
Chr9:5077434 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2196G>C (p.Leu732Phe) single nucleotide variant not provided [RCV003725775] Chr9:5080293 [GRCh38]
Chr9:5080293 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3168T>C (p.Ser1056=) single nucleotide variant not provided [RCV003839929] Chr9:5123112 [GRCh38]
Chr9:5123112 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3158A>G (p.Lys1053Arg) single nucleotide variant not provided [RCV003814943] Chr9:5123102 [GRCh38]
Chr9:5123102 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2267C>T (p.Ala756Val) single nucleotide variant not provided [RCV003836385] Chr9:5080364 [GRCh38]
Chr9:5080364 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1587T>C (p.Pro529=) single nucleotide variant not provided [RCV003839479] Chr9:5069998 [GRCh38]
Chr9:5069998 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.468+16C>G single nucleotide variant not provided [RCV003666815] Chr9:5044536 [GRCh38]
Chr9:5044536 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2599C>T (p.Arg867Trp) single nucleotide variant not provided [RCV003817117] Chr9:5089701 [GRCh38]
Chr9:5089701 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2572-16G>A single nucleotide variant not provided [RCV003811727] Chr9:5089658 [GRCh38]
Chr9:5089658 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2435-3C>T single nucleotide variant not provided [RCV003811246] Chr9:5081722 [GRCh38]
Chr9:5081722 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV003703044] Chr9:5022073 [GRCh38]
Chr9:5022073 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3291+16dup duplication not provided [RCV003835571] Chr9:5126453..5126454 [GRCh38]
Chr9:5126453..5126454 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.351-15T>C single nucleotide variant not provided [RCV003700880] Chr9:5044388 [GRCh38]
Chr9:5044388 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2655G>C (p.Gln885His) single nucleotide variant not provided [RCV003672153] Chr9:5089757 [GRCh38]
Chr9:5089757 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2460C>T (p.Asp820=) single nucleotide variant not provided [RCV003558923] Chr9:5081750 [GRCh38]
Chr9:5081750 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3060-9T>C single nucleotide variant not provided [RCV003811085] Chr9:5122995 [GRCh38]
Chr9:5122995 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2069G>A (p.Gly690Glu) single nucleotide variant not provided [RCV003855435] Chr9:5078382 [GRCh38]
Chr9:5078382 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.38G>T (p.Gly13Val) single nucleotide variant not provided [RCV003717850] Chr9:5022025 [GRCh38]
Chr9:5022025 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2390C>G (p.Ser797Cys) single nucleotide variant not provided [RCV003699950] Chr9:5080639 [GRCh38]
Chr9:5080639 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.614+5T>G single nucleotide variant not provided [RCV003813852] Chr9:5050836 [GRCh38]
Chr9:5050836 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1642-4G>A single nucleotide variant not provided [RCV003724462] Chr9:5072488 [GRCh38]
Chr9:5072488 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.248A>C (p.Asn83Thr) single nucleotide variant not provided [RCV003697136] Chr9:5029804 [GRCh38]
Chr9:5029804 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1327-3C>T single nucleotide variant not provided [RCV003836550] Chr9:5069019 [GRCh38]
Chr9:5069019 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.758A>G (p.Lys253Arg) single nucleotide variant not provided [RCV003704185] Chr9:5054706 [GRCh38]
Chr9:5054706 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.226G>T (p.Gly76Cys) single nucleotide variant not provided [RCV003707515] Chr9:5022213 [GRCh38]
Chr9:5022213 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1004G>A (p.Gly335Asp) single nucleotide variant not provided [RCV003734611] Chr9:5055736 [GRCh38]
Chr9:5055736 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1993-5A>C single nucleotide variant not provided [RCV003677368] Chr9:5078301 [GRCh38]
Chr9:5078301 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.351-20A>G single nucleotide variant not provided [RCV003711273] Chr9:5044383 [GRCh38]
Chr9:5044383 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1738T>C (p.Leu580=) single nucleotide variant not provided [RCV003728580] Chr9:5072588 [GRCh38]
Chr9:5072588 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2143A>C (p.Arg715=) single nucleotide variant not provided [RCV003568029] Chr9:5080240 [GRCh38]
Chr9:5080240 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1000G>A (p.Glu334Lys) single nucleotide variant not provided [RCV003564106] Chr9:5055732 [GRCh38]
Chr9:5055732 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3222C>T (p.Ile1074=) single nucleotide variant not provided [RCV003564108] Chr9:5126377 [GRCh38]
Chr9:5126377 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2574T>A (p.Gly858=) single nucleotide variant not provided [RCV003552891] Chr9:5089676 [GRCh38]
Chr9:5089676 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1541C>T (p.Thr514Met) single nucleotide variant not provided [RCV003735547] Chr9:5069952 [GRCh38]
Chr9:5069952 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2761+11C>T single nucleotide variant not provided [RCV003709660] Chr9:5089874 [GRCh38]
Chr9:5089874 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2131+9T>C single nucleotide variant not provided [RCV003563824] Chr9:5078453 [GRCh38]
Chr9:5078453 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2250A>C (p.Gly750=) single nucleotide variant not provided [RCV003568070] Chr9:5080347 [GRCh38]
Chr9:5080347 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1656C>A (p.Gly552=) single nucleotide variant not provided [RCV003729096] Chr9:5072506 [GRCh38]
Chr9:5072506 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.397C>T (p.Arg133Trp) single nucleotide variant not provided [RCV003566112] Chr9:5044449 [GRCh38]
Chr9:5044449 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2292A>G (p.Gln764=) single nucleotide variant not provided [RCV003553573] Chr9:5080541 [GRCh38]
Chr9:5080541 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1705G>T (p.Asp569Tyr) single nucleotide variant not provided [RCV003821614] Chr9:5072555 [GRCh38]
Chr9:5072555 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1881G>A (p.Glu627=) single nucleotide variant not provided [RCV003872491] Chr9:5077469 [GRCh38]
Chr9:5077469 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_004972.4(JAK2):c.614+6T>A single nucleotide variant not provided [RCV003706188] Chr9:5050837 [GRCh38]
Chr9:5050837 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.3059+15G>T single nucleotide variant not provided [RCV003680217] Chr9:5090926 [GRCh38]
Chr9:5090926 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1776+7A>G single nucleotide variant not provided [RCV003568242] Chr9:5072633 [GRCh38]
Chr9:5072633 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1353C>T (p.His451=) single nucleotide variant not provided [RCV003685650] Chr9:5069048 [GRCh38]
Chr9:5069048 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3366A>G (p.Arg1122=) single nucleotide variant not provided [RCV003554037] Chr9:5126758 [GRCh38]
Chr9:5126758 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1993-15G>A single nucleotide variant not provided [RCV003819852] Chr9:5078291 [GRCh38]
Chr9:5078291 [GRCh37]
Chr9:9p24.1		 benign
NM_004972.4(JAK2):c.2099C>T (p.Pro700Leu) single nucleotide variant not provided [RCV003684117] Chr9:5078412 [GRCh38]
Chr9:5078412 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_004972.4(JAK2):c.1993-10A>C single nucleotide variant not provided [RCV003681789] Chr9:5078296 [GRCh38]
Chr9:5078296 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_004972.4(JAK2):c.141T>G (p.Leu47=) single nucleotide variant not provided [RCV003718782] Chr9:5022128 [GRCh38]
Chr9:5022128 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2063A>G (p.Lys688Arg) single nucleotide variant not provided [RCV003718802] Chr9:5078376 [GRCh38]
Chr9:5078376 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.302T>C (p.Val101Ala) single nucleotide variant not provided [RCV003867079] Chr9:5029858 [GRCh38]
Chr9:5029858 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.468+13T>G single nucleotide variant not provided [RCV003685754] Chr9:5044533 [GRCh38]
Chr9:5044533 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_004972.4(JAK2):c.350+8C>G single nucleotide variant not provided [RCV003731322] Chr9:5029914 [GRCh38]
Chr9:5029914 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3337C>T (p.Arg1113Cys) single nucleotide variant not provided [RCV003720420] Chr9:5126729 [GRCh38]
Chr9:5126729 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1383G>A (p.Glu461=) single nucleotide variant not provided [RCV003865892] Chr9:5069078 [GRCh38]
Chr9:5069078 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2883C>T (p.Cys961=) single nucleotide variant not provided [RCV003707051] Chr9:5090567 [GRCh38]
Chr9:5090567 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2961G>C (p.Glu987Asp) single nucleotide variant not provided [RCV003847750] Chr9:5090813 [GRCh38]
Chr9:5090813 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1061T>C (p.Ile354Thr) single nucleotide variant not provided [RCV003732187] Chr9:5064887 [GRCh38]
Chr9:5064887 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1258A>G (p.Thr420Ala) single nucleotide variant not provided [RCV003551303] Chr9:5066721 [GRCh38]
Chr9:5066721 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2283A>G (p.Arg761=) single nucleotide variant not provided [RCV003677262] Chr9:5080380 [GRCh38]
Chr9:5080380 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1075T>C (p.Leu359=) single nucleotide variant not provided [RCV003858846] Chr9:5064901 [GRCh38]
Chr9:5064901 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.55A>G (p.Ile19Val) single nucleotide variant not provided [RCV003728937] Chr9:5022042 [GRCh38]
Chr9:5022042 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2112T>C (p.Ile704=) single nucleotide variant not provided [RCV003552450] Chr9:5078425 [GRCh38]
Chr9:5078425 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2284-6T>C single nucleotide variant not provided [RCV003564189] Chr9:5080527 [GRCh38]
Chr9:5080527 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.836C>T (p.Pro279Leu) single nucleotide variant not provided [RCV003706991] Chr9:5054784 [GRCh38]
Chr9:5054784 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2803G>A (p.Gly935Arg) single nucleotide variant JAK2-related condition [RCV003959269] Chr9:5090487 [GRCh38]
Chr9:5090487 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.2628G>A (p.Gly876=) single nucleotide variant JAK2-related condition [RCV003946905] Chr9:5089730 [GRCh38]
Chr9:5089730 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1436A>C (p.Asn479Thr) single nucleotide variant JAK2-related condition [RCV003976949] Chr9:5069131 [GRCh38]
Chr9:5069131 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1014A>G (p.Glu338=) single nucleotide variant JAK2-related condition [RCV003977217] Chr9:5055746 [GRCh38]
Chr9:5055746 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.3262T>C (p.Leu1088=) single nucleotide variant JAK2-related condition [RCV003921483] Chr9:5126417 [GRCh38]
Chr9:5126417 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.2015G>T (p.Gly672Val) single nucleotide variant JAK2-related condition [RCV003912093] Chr9:5078328 [GRCh38]
Chr9:5078328 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1290G>A (p.Lys430=) single nucleotide variant JAK2-related condition [RCV003972141] Chr9:5066753 [GRCh38]
Chr9:5066753 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.1266G>A (p.Leu422=) single nucleotide variant JAK2-related condition [RCV003894007] Chr9:5066729 [GRCh38]
Chr9:5066729 [GRCh37]
Chr9:9p24.1		 likely benign
NM_004972.4(JAK2):c.364C>T (p.Arg122Cys) single nucleotide variant JAK2-related condition [RCV003934508] Chr9:5044416 [GRCh38]
Chr9:5044416 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys) deletion Acquired polycythemia vera [RCV003989048] Chr9:5070030..5070038 [GRCh38]
Chr9:5070030..5070038 [GRCh37]		 uncertain significance
NM_004972.4(JAK2):c.2420G>A (p.Ser807Asn) single nucleotide variant JAK2-related condition [RCV003902093] Chr9:5080669 [GRCh38]
Chr9:5080669 [GRCh37]
Chr9:9p24.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR195hsa-miR-195-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR375hsa-miR-375Mirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20548334
MIR375hsa-miR-375Tarbaseexternal_infoWesternblitPOSITIVE
MIR375hsa-miR-375Mirecordsexternal_info{unchanged}NA20548334
MIR375hsa-miR-375OncomiRDBexternal_infoNANA20548334
MIR135A1hsa-miR-135a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19666866
MIR135A1hsa-miR-135a-5pOncomiRDBexternal_infoNANA22310976
MIR135A1hsa-miR-135a-5pOncomiRDBexternal_infoNANA19666866
MIR135A2hsa-miR-135a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19666866
MIR135A2hsa-miR-135a-5pOncomiRDBexternal_infoNANA22310976
MIR135A2hsa-miR-135a-5pOncomiRDBexternal_infoNANA19666866

Predicted Target Of
Summary Value
Count of predictions:608
Count of miRNA genes:407
Interacting mature miRNAs:438
Transcripts:ENST00000381652, ENST00000476574, ENST00000487310, ENST00000539801, ENST00000544510
Prediction methods:Miranda, Rnahybrid, Targetscan
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
RH65887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,071,088 - 5,071,260UniSTSGRCh37
Build 3695,061,088 - 5,061,260RGDNCBI36
Celera94,996,713 - 4,996,885RGD
Cytogenetic Map9p24UniSTS
HuRef95,026,637 - 5,026,809UniSTS
GeneMap99-GB4 RH Map924.65UniSTS
NCBI RH Map944.8UniSTS
RH92501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,127,083 - 5,127,233UniSTSGRCh37
Build 3695,117,083 - 5,117,233RGDNCBI36
Celera95,052,704 - 5,052,854RGD
Cytogenetic Map9p24UniSTS
HuRef95,082,629 - 5,082,779UniSTS
GeneMap99-GB4 RH Map924.55UniSTS
SHGC-106489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,078,228 - 5,078,515UniSTSGRCh37
Build 3695,068,228 - 5,068,515RGDNCBI36
Celera95,003,853 - 5,004,140RGD
Cytogenetic Map9p24UniSTS
HuRef95,033,777 - 5,034,064UniSTS
TNG Radiation Hybrid Map1219026.0UniSTS
JAK2_1315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,127,177 - 5,128,010UniSTSGRCh37
Build 3695,117,177 - 5,118,010RGDNCBI36
Celera95,052,798 - 5,053,631RGD
HuRef95,082,723 - 5,083,556UniSTS
STS-U89896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,980,223 - 1,980,437UniSTSGRCh37
GRCh3795,041,944 - 5,042,479UniSTSGRCh37
Build 3695,031,944 - 5,032,479RGDNCBI36
Celera94,967,568 - 4,968,103RGD
Celera191,914,222 - 1,914,436UniSTS
Cytogenetic Map9p24UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef191,752,488 - 1,752,702UniSTS
HuRef94,997,492 - 4,998,028UniSTS
GeneMap99-GB4 RH Map926.77UniSTS
NCBI RH Map914.3UniSTS
WI-11536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,015,754 - 5,015,880UniSTSGRCh37
Build 3695,005,754 - 5,005,880RGDNCBI36
Celera94,941,378 - 4,941,504RGD
Cytogenetic Map9p24UniSTS
HuRef94,971,302 - 4,971,428UniSTS
GeneMap99-GB4 RH Map922.93UniSTS
Whitehead-RH Map930.1UniSTS
NCBI RH Map952.9UniSTS
JAK2-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,077,553 - 5,078,388UniSTSGRCh37
Celera95,003,178 - 5,004,013UniSTS
HuRef95,033,102 - 5,033,937UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1123 1737 253 24 1259 22 3201 743 756 105 835 853 4 1071 2001 1
Low 1316 1246 1469 596 689 439 1153 1448 2971 313 625 758 170 1 133 787 4 2
Below cutoff 8 4 4 3 4 5 6 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF001362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF005216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI923337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY973034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY973037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF094945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF194100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU272048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON706994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381652   ⟹   ENSP00000371067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl94,985,272 - 5,129,948 (+)Ensembl
RefSeq Acc Id: ENST00000476574   ⟹   ENSP00000490624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl94,985,033 - 5,022,065 (+)Ensembl
RefSeq Acc Id: ENST00000487310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,125,965 - 5,126,974 (+)Ensembl
RefSeq Acc Id: ENST00000636127   ⟹   ENSP00000489812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl94,984,390 - 5,078,444 (+)Ensembl
RefSeq Acc Id: NM_001322194   ⟹   NP_001309123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,086 - 5,129,948 (+)NCBI
CHM1_194,985,311 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,194 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322195   ⟹   NP_001309124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,086 - 5,129,948 (+)NCBI
CHM1_194,985,311 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,194 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322196   ⟹   NP_001309125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,272 - 5,129,948 (+)NCBI
CHM1_194,985,455 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,380 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322198   ⟹   NP_001309127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,272 - 5,129,948 (+)NCBI
CHM1_194,985,455 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,380 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322199   ⟹   NP_001309128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,272 - 5,129,948 (+)NCBI
CHM1_194,985,455 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,380 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322204   ⟹   NP_001309133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,041,532 - 5,129,948 (+)NCBI
CHM1_195,041,897 - 5,128,355 (+)NCBI
T2T-CHM13v2.095,046,616 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004972   ⟹   NP_004963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,272 - 5,129,948 (+)NCBI
GRCh3794,985,245 - 5,129,948 (+)NCBI
Build 3694,975,245 - 5,117,995 (+)NCBI Archive
HuRef94,940,783 - 5,083,727 (+)ENTREZGENE
CHM1_194,985,470 - 5,128,355 (+)NCBI
T2T-CHM13v2.094,990,380 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169763
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,984,390 - 5,129,948 (+)NCBI
T2T-CHM13v2.094,989,498 - 5,135,022 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169764
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,984,390 - 5,129,948 (+)NCBI
T2T-CHM13v2.094,989,498 - 5,135,022 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001309123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309133 (Get FASTA)   NCBI Sequence Viewer  
  NP_004963 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB82092 (Get FASTA)   NCBI Sequence Viewer  
  AAC23653 (Get FASTA)   NCBI Sequence Viewer  
  AAC23982 (Get FASTA)   NCBI Sequence Viewer  
  AAH39695 (Get FASTA)   NCBI Sequence Viewer  
  AAY16348 (Get FASTA)   NCBI Sequence Viewer  
  AAY22962 (Get FASTA)   NCBI Sequence Viewer  
  ABK91947 (Get FASTA)   NCBI Sequence Viewer  
  ABM69254 (Get FASTA)   NCBI Sequence Viewer  
  ABX71217 (Get FASTA)   NCBI Sequence Viewer  
  BAF85214 (Get FASTA)   NCBI Sequence Viewer  
  BAG63863 (Get FASTA)   NCBI Sequence Viewer  
  EAW58774 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371067
  ENSP00000371067.4
  ENSP00000489812.1
  ENSP00000490624.1
GenBank Protein O60674 (Get FASTA)   NCBI Sequence Viewer  
  UVT36362 (Get FASTA)   NCBI Sequence Viewer  
  UVT36363 (Get FASTA)   NCBI Sequence Viewer  
  UVT36364 (Get FASTA)   NCBI Sequence Viewer  
  UVT36365 (Get FASTA)   NCBI Sequence Viewer  
  UVT36366 (Get FASTA)   NCBI Sequence Viewer  
  UVT36367 (Get FASTA)   NCBI Sequence Viewer  
  UVT36368 (Get FASTA)   NCBI Sequence Viewer  
  UVT36369 (Get FASTA)   NCBI Sequence Viewer  
  UVT36370 (Get FASTA)   NCBI Sequence Viewer  
  UVT36371 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004963   ⟸   NM_004972
- Peptide Label: isoform a
- UniProtKB: O14636 (UniProtKB/Swiss-Prot),   O75297 (UniProtKB/Swiss-Prot),   O60674 (UniProtKB/Swiss-Prot),   A8K910 (UniProtKB/TrEMBL),   Q506Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309123   ⟸   NM_001322194
- Peptide Label: isoform a
- UniProtKB: O14636 (UniProtKB/Swiss-Prot),   O75297 (UniProtKB/Swiss-Prot),   O60674 (UniProtKB/Swiss-Prot),   A8K910 (UniProtKB/TrEMBL),   Q506Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309124   ⟸   NM_001322195
- Peptide Label: isoform a
- UniProtKB: O14636 (UniProtKB/Swiss-Prot),   O75297 (UniProtKB/Swiss-Prot),   O60674 (UniProtKB/Swiss-Prot),   A8K910 (UniProtKB/TrEMBL),   Q506Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309127   ⟸   NM_001322198
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001309125   ⟸   NM_001322196
- Peptide Label: isoform a
- UniProtKB: O14636 (UniProtKB/Swiss-Prot),   O75297 (UniProtKB/Swiss-Prot),   O60674 (UniProtKB/Swiss-Prot),   A8K910 (UniProtKB/TrEMBL),   Q506Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309128   ⟸   NM_001322199
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001309133   ⟸   NM_001322204
- Peptide Label: isoform b
- UniProtKB: B4DYV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489812   ⟸   ENST00000636127
RefSeq Acc Id: ENSP00000371067   ⟸   ENST00000381652
RefSeq Acc Id: ENSP00000490624   ⟸   ENST00000476574
Protein Domains
FERM   Protein kinase   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60674-F1-model_v2 AlphaFold O60674 1-1132 view protein structure

Promoters
RGD ID:6807793
Promoter ID:HG_KWN:62516
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:OTTHUMT00000051609,   OTTHUMT00000051610,   UC010MHM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3694,974,576 - 4,975,367 (+)MPROMDB
RGD ID:6814430
Promoter ID:HG_MGC:974
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:BC039695
Position:
Human AssemblyChrPosition (strand)Source
Build 3694,975,716 - 4,976,216 (+)MPROMDB
RGD ID:7214607
Promoter ID:EPDNEW_H13049
Type:initiation region
Name:JAK2_1
Description:Janus kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13050  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,985,272 - 4,985,332EPDNEW
RGD ID:7214609
Promoter ID:EPDNEW_H13050
Type:initiation region
Name:JAK2_2
Description:Janus kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13049  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3894,996,908 - 4,996,968EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6192 AgrOrtholog
COSMIC JAK2 COSMIC
Ensembl Genes ENSG00000096968 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381652 ENTREZGENE
  ENST00000381652.4 UniProtKB/Swiss-Prot
  ENST00000476574.5 UniProtKB/TrEMBL
  ENST00000636127.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000096968 GTEx
HGNC ID HGNC:6192 ENTREZGENE
Human Proteome Map JAK2 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_PHL_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAK2_FERM_C-lobe UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JAK2_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTK_Jak2_rpt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTKc_Jak2_rpt2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_Jak/Tyk2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_non-rcpt_Jak2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3717 UniProtKB/Swiss-Prot
NCBI Gene 3717 ENTREZGENE
OMIM 147796 OMIM
PANTHER TYROSINE-PROTEIN KINASE HOPSCOTCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE JAK2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_F2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Jak1_Phl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB JAK2 RGD, PharmGKB
PIRSF TyrPK_Jak UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS JANUSKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JANUSKINASE2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTR9_HUMAN UniProtKB/TrEMBL
  A0A1B0GVR5_HUMAN UniProtKB/TrEMBL
  A8K910 ENTREZGENE, UniProtKB/TrEMBL
  A9QVL8_HUMAN UniProtKB/TrEMBL
  B4DYV1 ENTREZGENE, UniProtKB/TrEMBL
  JAK2_HUMAN UniProtKB/Swiss-Prot
  O14636 ENTREZGENE
  O60674 ENTREZGENE
  O75297 ENTREZGENE
  Q506Q0 ENTREZGENE, UniProtKB/TrEMBL
  Q52R86_HUMAN UniProtKB/TrEMBL
  Q8IXP2_HUMAN UniProtKB/TrEMBL
UniProt Secondary O14636 UniProtKB/Swiss-Prot
  O75297 UniProtKB/Swiss-Prot