Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041

2018

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 21659346

2011

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922

2009

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171

2008

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR In a previous study, we identified four missense mutations in CAMT patients, predicting Arg102Pro, Pro136His, Arg257Cys and Pro635Leu. 18422784

2008

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591

2006

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 11972523

2002

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001

dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406

2000

dbSNP: rs28928907
rs28928907
MPL
C 0.800 GeneticVariation CLINVAR

dbSNP: rs28928907
rs28928907
MPL
0.800 GeneticVariation UNIPROT

dbSNP: rs28928908
rs28928908
MPL
0.800 GeneticVariation UNIPROT

dbSNP: rs28928908
rs28928908
MPL
A 0.800 CausalMutation CLINVAR

dbSNP: rs1196161699
rs1196161699
MPL
0.710 GeneticVariation BEFREE F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 20188141

2010

dbSNP: rs1196161699
rs1196161699
MPL
0.710 GeneticVariation UNIPROT

dbSNP: rs587778514
rs587778514
MPL
C 0.700 CausalMutation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648

2016

dbSNP: rs1448812001
rs1448812001
MPL
0.700 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015

dbSNP: rs750046020
rs750046020
MPL
T 0.700 CausalMutation CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015

dbSNP: rs763568293
rs763568293
MPL
0.700 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015

dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

dbSNP: rs146249964
rs146249964
MPL
A 0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

dbSNP: rs755257605
rs755257605
MPL
C 0.700 GeneticVariation CLINVAR Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 23625800

2013

dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838

2011

dbSNP: rs146249964
rs146249964
MPL
A 0.700 CausalMutation CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838

2011