Table 4.

Mutations of GATA2 resulting in variable phenotypes (Fig.3) ⁷⁸

Mutation type	AA location	Phenotype
Nonsense	337(ZF1)	Emberger syndrome
Missense	254	MonoMAC/DCML
	354(ZF2)	Familial MDS/AML, MonoMAC/DCML
	361(ZF2)	MonoMAC/DCML
	371(ZF2)	MonoMAC/DCML
	373(ZF2)	Emberger syndrome
	396(ZF2)	MonoMAC/DCML
	398(ZF2)	MonoMAC/DCML
Frameshift	1	MonoMAC/DCML
	78	Emberger syndrome
	81	MonoMAC/DCML
	105	Emberger syndrome
	194	Emberger syndrome
	200	MonoMAC/DCML
	259	MonoMAC/DCML
	317(ZF1)	MonoMAC/DCML
	341(ZF1)	Emberger syndrome
In-frame insertion or deletion	355(ZF2)	Familial MDS/AML
	361(ZF2)	MonoMAC/DCML, Emberger syndrome
Large deletion	340–381(ZF1 & 2)	MonoMAC/DCML

MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; DCML, dendritic cell, monocyte, and lymphocyte.