rs387906633
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
rs387906633
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
|
27894982 |
2017 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.
|
26812071 |
2016 |
rs1559985787
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
|
26702063 |
2016 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
|
25879889 |
2015 |
rs1559985787
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
|
26492932 |
2015 |
rs387906631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
|
25676417 |
2015 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
|
24077845 |
2014 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
|
24266605 |
2013 |
rs1559985787
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
rs1559985787
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
rs387906631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
rs387906632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
rs1426175410
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
rs387906631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |
rs387906631
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |
rs387906632
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
rs867160952
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
rs1553770434
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553770510
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553770949
|
|
CGTCAG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1559986109
|
|
CTGTGGCCCCACAGT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|