"Baylor Genetics"[submitter] AND "GATA4"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30104	NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)	GATA4	Microsatellite (inframe_insertion +1 more)	Testicular anomalies with or without congenital heart disease +3 more	GConflicting classifications of pathogenicity
Select item 429341	NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly)	GATA4 (A131G)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot +5 more	GUncertain significance
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 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 1029405	NM_001308093.3(GATA4):c.851G>A (p.Arg284His)	GATA4 (R284H +2 more)	Single nucleotide variant (missense variant +1 more)	Testicular anomalies with or without congenital heart disease +2 more	GPathogenic/Likely pathogenic
Select item 1029406	NM_001308093.3(GATA4):c.931A>T (p.Met311Leu)	GATA4 (M104L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 849443	NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe)	GATA4 (Y204F +3 more)	Single nucleotide variant (missense variant)	Testicular anomalies with or without congenital heart disease +4 more	GUncertain significance
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625634	GRCh37/hg19 8p23.1(chr8:8403375-11805960)	BLK, C8orf74 +20 more	Copy number loss	Tetralogy of Fallot	GPathogenic