ClinVar for MedGen (Select 482573) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236107	NM_005257.6(GATA6):c.1441C>A (p.Leu481Ile)	GATA6 (L481I)	Single nucleotide variant (missense variant)	Atrial septal defect 9	GUncertain significance
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 1805697	NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)	GATA6 (H448Y)	Single nucleotide variant (missense variant)	Atrial septal defect 9	GUncertain significance
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 857098	NM_005257.6(GATA6):c.706G>T (p.Gly236Cys)	GATA6 (G236C)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +2 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 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 472909	NM_005257.6(GATA6):c.1089G>T (p.Gln363His)	GATA6 (Q363H)	Single nucleotide variant (missense variant)	Atrial septal defect 9 +1 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 240127	NM_005257.6(GATA6):c.1374C>T (p.Asn458=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +7 more	GBenign/Likely benign
Select item 30210	NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	GATA6 (S184N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign