ClinVar for MedGen (Select 860891) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573054	NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu)	GATA6 (R456L)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 2500038	NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	GATA6 (E68Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +4 more	GUncertain significance
Select item 2445920	NM_005257.6(GATA6):c.239_245del (p.Leu80fs)	GATA6 (L80fs)	Deletion (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GLikely pathogenic
Select item 1805832	NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs)	GATA6 (G375fs)	Duplication (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 1711184	NM_005257.6(GATA6):c.795del (p.Ser266fs)	GATA6 (S266fs)	Deletion (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 1583127	NM_005257.6(GATA6):c.525G>T (p.Ala175=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 1311036	NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)	GATA6 (P87S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 999815	NM_005257.6(GATA6):c.660C>T (p.Gly220=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GConflicting classifications of pathogenicity
Select item 863328	NM_005257.6(GATA6):c.367A>G (p.Thr123Ala)	GATA6 (T123A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 700342	NM_005257.6(GATA6):c.735G>A (p.Gly245=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 572520	NM_005257.6(GATA6):c.352C>T (p.Leu118Phe)	GATA6 (L118F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +3 more	GConflicting classifications of pathogenicity
Select item 549549	NM_005257.6(GATA6):c.172A>G (p.Ser58Gly)	GATA6 (S58G)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 540134	NM_005257.6(GATA6):c.233T>C (p.Leu78Pro)	GATA6 (L78P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 540131	NM_005257.6(GATA6):c.839G>C (p.Gly280Ala)	GATA6 (G280A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +5 more	GUncertain significance
Select item 412726	NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	GATA6 (P555A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +6 more	GConflicting classifications of pathogenicity
Select item 412724	NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro)	GATA6 (A575P)	Single nucleotide variant (missense variant)	GATA6-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 240127	NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	GATA6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 211064	NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)	GATA6 (A459T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +5 more	GConflicting classifications of pathogenicity
Select item 211063	NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter)	GATA6 (Q363*)	Single nucleotide variant (nonsense)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 156011	NM_005257.6(GATA6):c.1072del (p.Val358fs)	GATA6 (V358fs)	Deletion (frameshift variant)	Congenital diaphragmatic hernia +1 more	GPathogenic
Select item 156010	NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)	GATA6 (G238*)	Single nucleotide variant (nonsense)	Congenital diaphragmatic hernia +1 more	GPathogenic
Select item 39844	NM_005257.6(GATA6):c.1504_1505del (p.Lys502fs)	GATA6 (K502fs)	Deletion (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 30216	NM_005257.6(GATA6):c.1399G>A (p.Ala467Thr)	GATA6 (A467T)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 30215	NM_005257.6(GATA6):c.1396A>G (p.Asn466Asp)	GATA6 (N466D)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 30214	NM_005257.6(GATA6):c.1367G>A (p.Arg456His)	GATA6 (R456H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30213	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)	GATA6 (R456C)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +3 more	GPathogenic
Select item 30212	NM_005257.6(GATA6):c.1448_1455del (p.Met483fs)	GATA6 (M483fs)	Deletion (frameshift variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic
Select item 30211	NM_005257.6(GATA6):c.1354A>G (p.Thr452Ala)	GATA6 (T452A)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	GPathogenic

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Items: 28