Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906631
rs387906631
GATA2
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: rs387906631
rs387906631
GATA2
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
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
A 0.700 CausalMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162

2011