"Ambry Genetics"[submitter] AND "GATA6"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 962284	NM_005257.6(GATA6):c.16G>A (p.Gly6Ser)	GATA6 (G6S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 3098762	NM_005257.6(GATA6):c.178T>C (p.Cys60Arg)	GATA6 (C60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230915	NM_005257.6(GATA6):c.236T>C (p.Leu79Pro)	GATA6 (L79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 404061	NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)	GATA6 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 999369	NM_005257.6(GATA6):c.314A>G (p.Asn105Ser)	GATA6 (N105S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3098763	NM_005257.6(GATA6):c.412C>T (p.Pro138Ser)	GATA6 (P138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297793	NM_005257.6(GATA6):c.506T>G (p.Phe169Cys)	GATA6 (F169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849672	NM_005257.6(GATA6):c.589A>C (p.Met197Leu)	GATA6 (M197L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267389	NM_005257.6(GATA6):c.659G>T (p.Gly220Val)	GATA6 (G220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537521	NM_005257.6(GATA6):c.754G>C (p.Ala252Pro)	GATA6 (A252P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280855	NM_005257.6(GATA6):c.761C>T (p.Ser254Leu)	GATA6 (S254L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 540130	NM_005257.6(GATA6):c.775G>A (p.Val259Ile)	GATA6 (V259I)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +2 more	GConflicting classifications of pathogenicity
Select item 2279032	NM_005257.6(GATA6):c.833A>G (p.Glu278Gly)	GATA6 (E278G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270317	NM_005257.6(GATA6):c.916C>G (p.Arg306Gly)	GATA6 (R306G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998628	NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser)	GATA6 (P339S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 1443442	NM_005257.6(GATA6):c.1021G>A (p.Val341Met)	GATA6 (V341M)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 965411	NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr)	GATA6 (P435T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 240127	NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	GATA6	Single nucleotide variant (synonymous variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +7 more	GBenign/Likely benign
Select item 412726	NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	GATA6 (P555A)	Single nucleotide variant (missense variant)	Atrial septal defect 9 +6 more	GConflicting classifications of pathogenicity