"Genetic Services Laboratory, University of Chicago"[submitter] AND "G - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1336889	NM_001308093.3(GATA4):c.158A>T (p.Tyr53Phe)	GATA4 (Y53F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 239100	NM_001308093.3(GATA4):c.348C>T (p.Ser116=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +4 more	GLikely benign
Select item 435285	NM_001308093.3(GATA4):c.491C>T (p.Ala164Val)	GATA4 (A164V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 412744	NM_001308093.3(GATA4):c.588C>T (p.Ala196=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 472779	NM_001308093.3(GATA4):c.618A>G (p.Val206=)	GATA4	Single nucleotide variant (5 prime UTR variant +2 more)	Atrioventricular septal defect 4 +1 more	GConflicting classifications of pathogenicity
Select item 44335	NM_001308093.3(GATA4):c.702G>A (p.Thr234=)	GATA4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 44336	NM_001308093.3(GATA4):c.825C>T (p.Cys275=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 472781	NM_001308093.3(GATA4):c.861G>A (p.Ala287=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 1337866	NM_001308093.3(GATA4):c.915C>A (p.Val305=)	GATA4	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 30100	NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)	GATA4 (A346V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 412737	NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)	GATA4 (P394T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 239098	NM_001308093.3(GATA4):c.1224A>C (p.Pro408=)	GATA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 849443	NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe)	GATA4 (Y204F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance