Related gene-specific medical variations for Gene (Select 2627) - ClinVar

	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 2432055	NM_005257.6(GATA6):c.783G>A (p.Ala261=)	GATA6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 808369	NM_005257.6(GATA6):c.712G>A (p.Gly238Arg)	GATA6 (G238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684684	NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys)	GATA6 (S511C)	Single nucleotide variant (missense variant)	Atypical coarctation of aorta	GLikely pathogenic
Select item 636827	NM_005257.6(GATA6):c.424G>T (p.Glu142Ter)	GATA6 (E142*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591435	NM_005257.6(GATA6):c.1054G>C (p.Gly352Arg)	GATA6 (G352R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591419	NM_005257.6(GATA6):c.1729_1743dup (p.Pro577_Thr581dup)	GATA6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 591132	NM_005257.6(GATA6):c.1208G>T (p.Arg403Leu)	GATA6 (R403L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591055	NM_005257.6(GATA6):c.1171G>A (p.Val391Met)	GATA6 (V391M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar