C3279664[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435281	NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	GATA2 (R362* +1 more)	Single nucleotide variant (nonsense)	Deafness-lymphedema-leukemia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 802000	NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)	GATA2 (C349Y)	Single nucleotide variant (missense variant +1 more)	Deafness-lymphedema-leukemia syndrome	GLikely pathogenic
Select item 802001	NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	GATA2 (C349R)	Single nucleotide variant (missense variant +1 more)	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 241713	NM_032638.5(GATA2):c.1017+8C>T	GATA2	Single nucleotide variant (intron variant)	GATA2-related condition +2 more	GLikely benign
Select item 802002	NM_032638.5(GATA2):c.831del (p.Phe278fs)	GATA2 (F278fs)	Deletion (frameshift variant)	Deafness-lymphedema-leukemia syndrome	GPathogenic
Select item 577317	NM_032638.5(GATA2):c.661A>C (p.Met221Leu)	GATA2 (M221L)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance

ClinVar