Related gene-specific medical variations for Gene (Select 2626) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361005	NM_001308093.3(GATA4):c.593C>G (p.Pro198Arg)	GATA4 (P198R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360663	NM_001308093.3(GATA4):c.653G>A (p.Cys218Tyr)	GATA4 (C11Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353721	NC_000008.11:g.11703279A>G	GATA4, LOC110121280	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 3245522	NC_000008.10:g.(?_11565822)_(11615984_?)del	GATA4	Deletion	Atrioventricular septal defect 4	GPathogenic
Select item 2582576	NM_001308093.3(GATA4):c.799C>T (p.Arg267Ter)	GATA4 (R266* +2 more)	Single nucleotide variant (nonsense +1 more)	Testicular anomalies with or without congenital heart disease	GLikely pathogenic
Select item 2582487	NM_001308093.3(GATA4):c.425G>A (p.Gly142Asp)	GATA4 (G142D)	Single nucleotide variant (missense variant +1 more)	Testicular anomalies with or without congenital heart disease	GUncertain significance
Select item 2442181	NM_001308093.3(GATA4):c.448G>T (p.Gly150Trp)	GATA4 (G150W)	Single nucleotide variant (missense variant +1 more)	Testicular anomalies with or without congenital heart disease	GUncertain significance
Select item 2432051	NM_001308093.3(GATA4):c.422C>T (p.Ala141Val)	GATA4 (A141V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 975396	NM_001308093.3(GATA4):c.142G>A (p.Val48Met)	GATA4 (V48M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 930881	NM_001308093.3(GATA4):c.786+16G>T	GATA4	Single nucleotide variant (intron variant)	Atrial septal defect 2	GUncertain significance
Select item 539983	NC_000008.11:g.11703355C>A	GATA4, LOC110121280	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GBenign
Select item 404063	NC_000008.11:g.11703278T>C	GATA4, LOC110121280	Single nucleotide variant (intron variant)	Atrioventricular septal defect 4	GLikely benign
Select item 139594	NM_001308093.3(GATA4):c.*426C>T	GATA4	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 139593	NM_001308093.3(GATA4):c.*354A>C	GATA4	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance