"Diagnostic Genetics, Severance Hospital, Yonsei University College of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442792	NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs)	GATA2 (S340fs)	Indel (frameshift variant +1 more)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 2442796	NM_032638.5(GATA2):c.750del (p.Ser251fs)	GATA2 (S251fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections	GLikely pathogenic