"Blueprint Genetics"[submitter] AND "GATA5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180368	NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	GATA5 (R387C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222642	NM_080473.5(GATA5):c.767G>A (p.Arg256Gln)	GATA5 (R256Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 636709	NM_080473.5(GATA5):c.546C>G (p.Phe182Leu)	GATA5 (F182L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222641	NM_080473.5(GATA5):c.143G>T (p.Gly48Val)	GATA5 (G48V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 180367	NM_080473.5(GATA5):c.104C>T (p.Pro35Leu)	GATA5 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180366	NM_080473.5(GATA5):c.8A>G (p.Gln3Arg)	GATA5 (Q3R)	Single nucleotide variant (missense variant)	GATA5-related condition +1 more	GBenign/Likely benign

ClinVar