C4693563[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220210	NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)	GATA5 (K363R)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1961852	NM_080473.5(GATA5):c.714C>T (p.Arg238=)	GATA5	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1031059	NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)	GATA5 (F159L)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GConflicting classifications of pathogenicity
Select item 420167	NM_080473.5(GATA5):c.424T>C (p.Tyr142His)	GATA5 (Y142H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2432052	NM_080473.5(GATA5):c.405G>T (p.Gly135=)	GATA5	Single nucleotide variant (synonymous variant)	Congenital heart defects, multiple types, 5	GUncertain significance
Select item 1201923	NM_080473.5(GATA5):c.232G>A (p.Gly78Ser)	GATA5 (G78S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432054	NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)	GATA5 (G76C)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5	GUncertain significance
Select item 1190007	NM_080473.5(GATA5):c.83C>T (p.Ala28Val)	GATA5 (A28V)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 5 +1 more	GUncertain significance