|
rs387906631
|
|
MYELODYSPLASTIC SYNDROME
|
A |
0.820 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs387906629
|
|
GATA2 Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906630
|
|
GATA2 Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906631
|
|
GATA2 Deficiency
|
A |
0.800 |
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 |
|
rs387906631
|
|
GATA2 Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
|
rs387906631
|
|
GATA2 Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |
|
rs387906631
|
|
GATA2 Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |
|
rs387906633
|
|
Emberger Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906631
|
|
Leukemia, Myelocytic, Acute
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
|
rs387906631
|
|
Leukemia, Myelocytic, Acute
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
|
21765025 |
2011 |
|
rs1426175410
|
|
GATA2 Deficiency
|
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 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
|
rs1426175410
|
|
Emberger Syndrome
|
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 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
|
25879889 |
2015 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
|
25879889 |
2015 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
|
24077845 |
2014 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
|
24077845 |
2014 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
|
24266605 |
2013 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
|
24266605 |
2013 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
|
rs1426175410
|
|
GATA2 Deficiency
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
|
rs1426175410
|
|
Emberger Syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
|
rs1426175410
|
|
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|