ClinVar for MedGen (Select 334249) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066303	NM_001308093.3(GATA4):c.896A>G (p.Tyr299Cys)	GATA4 (Y298C +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2	GLikely pathogenic
Select item 1805431	NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)	GATA4	Deletion (inframe_indel +1 more)	Atrial septal defect 2	GLikely pathogenic
Select item 1372032	NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)	GATA4 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1338850	NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter)	GATA4 (R230* +2 more)	Single nucleotide variant (nonsense)	Atrial septal defect 2 +1 more	GPathogenic
Select item 1314160	NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
Select item 1253738	NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser)	GATA4 (T280S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1197085	NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)	GATA4 (P165A +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
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 930881	NM_001308093.3(GATA4):c.786+16G>T	GATA4	Single nucleotide variant (intron variant)	Atrial septal defect 2	GUncertain significance
Select item 870470	NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)	GATA4 (G189R +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +1 more	GConflicting classifications of pathogenicity
Select item 545667	NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp)	GATA4 (R320W +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +1 more	GConflicting classifications of pathogenicity
Select item 472784	NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp)	GATA4 (E313D +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +6 more	GUncertain significance
Select item 472776	NM_001308093.3(GATA4):c.263G>T (p.Gly88Val)	GATA4 (G88V)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2 +6 more	GUncertain significance
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 424039	NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn)	GATA4 (D438N +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 239099	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	GATA4 (A411V +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 44336	NM_001308093.3(GATA4):c.825C>T (p.Cys275=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Tetralogy of Fallot +7 more	GConflicting classifications of pathogenicity
Select item 30109	NM_001308093.3(GATA4):c.931A>G (p.Met311Val)	GATA4 (M310V +3 more)	Single nucleotide variant (missense variant)	GATA4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 30108	NM_001308093.3(GATA4):c.842C>T (p.Thr281Met)	GATA4 (T280M +2 more)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 30103	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	GATA4 (P407Q +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +5 more	GConflicting classifications of pathogenicity
Select item 30098	NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys)	GATA4 (G296C +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2	GPathogenic
Select item 9034	NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	GATA4 (D425N +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +7 more	GConflicting classifications of pathogenicity
Select item 9033	NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu)	GATA4 (Q316E +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4	GUncertain significance
Select item 9032	NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe)	GATA4 (S52F)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2	GPathogenic
Select item 9031	NM_001308093.3(GATA4):c.1078del (p.Glu360fs)	GATA4 (E359fs +3 more)	Deletion (frameshift variant)	Atrial septal defect 2	GPathogenic
Select item 9030	NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser)	GATA4 (G296S +2 more)	Single nucleotide variant (missense variant +1 more)	Transposition of the great arteries	GPathogenic

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Items: 26