Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906633
rs387906633
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs869320770
rs869320770
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		GCGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs867160952
rs867160952
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		T 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158

2011
dbSNP: rs863224874
rs863224874
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		AGAGG 0.700 CausalMutation CLINVAR

dbSNP: rs387906634
rs387906634
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906632
rs387906632
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 21892158

2011
dbSNP: rs387906632
rs387906632
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Multiple Opportunistic Infections in a Woman with GATA2 Mutation. 27894982

2017
dbSNP: rs387906632
rs387906632
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222

2013
dbSNP: rs387906631
rs387906631
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162

2011
dbSNP: rs387906631
rs387906631
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465

2011
dbSNP: rs387906631
rs387906631
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458

2013
dbSNP: rs387906631
rs387906631
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		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
dbSNP: rs376003468
rs376003468
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559986946
rs1559986946
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1559986109
rs1559986109
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		CTGTGGCCCCACAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1559985787
rs1559985787
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222

2013
dbSNP: rs1559985787
rs1559985787
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. 26492932

2015
dbSNP: rs1559985787
rs1559985787
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. 26702063

2016
dbSNP: rs1559985787
rs1559985787
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. 23365458

2013
dbSNP: rs1553770949
rs1553770949
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		CGTCAG 0.700 CausalMutation CLINVAR

dbSNP: rs1553770510
rs1553770510
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553770434
rs1553770434
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1426175410
rs1426175410
GATA2
CUI: C3279664
Disease: Emberger Syndrome
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
dbSNP: rs1426175410
rs1426175410
GATA2
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		A 0.700 GeneticVariation CLINVAR GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. 23502222

2013
dbSNP: rs1426175410
rs1426175410
GATA2
CUI: C3279664
Disease: Emberger Syndrome
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