Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR Here we report establishment of a new leukemia cell line, PVTL-1, homozygous for JAK2-V617F from a 73-year-old female patient with acute myeloid leukemia (AML) transformed from MPN. 24404189

2014

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications. 22818858

2013

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). 23115274

2013

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR The synergy translated in vivo in two different AML models, the SET-2 megakaryoblastic AML mouse model carrying a JAK2(V617F) mutation, and the MOLM-13 model of FLT3-ITD-driven AML. 22829971

2012

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML). 22571758

2012

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. 22422826

2012

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML. 22041374

2011

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse. 21689158

2011

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. 20631743

2010

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML. 21120162

2010

dbSNP: rs77375493
rs77375493
T 0.900 GeneticVariation CLINVAR AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. 20339092

2010

dbSNP: rs77375493
rs77375493
T 0.900 CausalMutation CLINVAR

dbSNP: rs121912472
rs121912472
C 0.810 CausalMutation CLINVAR