"Personalized Diabetes Medicine Program, University of Maryland School - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129134	NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)	GATA6 (G15R)	Single nucleotide variant (missense variant)	GATA6-related condition +4 more	GBenign
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 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 30209	NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	GATA6 (A178V)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 30208	NM_005257.6(GATA6):c.592C>G (p.Leu198Val)	GATA6 (L198V)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 129135	NM_005257.6(GATA6):c.851C>G (p.Ala284Gly)	GATA6 (A284G)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 211064	NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)	GATA6 (A459T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 412724	NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro)	GATA6 (A575P)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GConflicting classifications of pathogenicity