GATA4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1249989	NM_001308094.2(GATA4):c.-6+2939A>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629206	NM_001308094.2(GATA4):c.-6+3072C>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GUncertain significance
Select item 3051625	NM_001308094.2(GATA4):c.-6+3114G>T	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 1189580	NM_001308094.2(GATA4):c.-6+3114G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054605	NM_001308094.2(GATA4):c.-6+3128G>A	GATA4	Single nucleotide variant (intron variant)	GATA4-related disorder	GLikely benign
Select item 1191705	NM_001308094.2(GATA4):c.-6+3189G>A	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238785	NM_001308094.2(GATA4):c.-6+3194G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169270	NM_001308093.3(GATA4):c.-543C>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	Atrioventricular septal defect 4 +1 more	GBenign
Select item 1301633	NM_001308093.3(GATA4):c.-458+5G>A	GATA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1236492	NM_001308093.3(GATA4):c.-457-278C>A	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207411	NM_001308093.3(GATA4):c.-306C>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201386	NM_001308093.3(GATA4):c.-294G>T	GATA4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2132283	NM_001308093.3(GATA4):c.-2_5del (p.Met1fs)	GATA4 (M1fs)	Deletion (frameshift variant +2 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2658409	NM_001308093.3(GATA4):c.7C>G (p.Gln3Glu)	GATA4 (Q3E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 472782	NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro)	GATA4 (Q3P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2697204	NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)	GATA4 (S4N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2139939	NM_001308093.3(GATA4):c.12C>T (p.Ser4=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 2007353	NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg)	GATA4 (S4R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 412734	NM_001308093.3(GATA4):c.13T>C (p.Leu5=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 1194176	NM_001308093.3(GATA4):c.15G>A (p.Leu5=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 846765	NM_001308093.3(GATA4):c.19A>G (p.Met7Val)	GATA4 (M7V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 851716	NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser)	GATA4 (A8S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 219226	NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp)	GATA4 (A8D)	Single nucleotide variant (missense variant +1 more)	Congenital heart disease	GPathogenic
Select item 2704530	NM_001308093.3(GATA4):c.24C>T (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 2452500	NM_001308093.3(GATA4):c.24C>A (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2081328	NM_001308093.3(GATA4):c.24C>G (p.Ala8=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 219227	NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)	GATA4 (A9T)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot	GUncertain significance
Select item 219231	NM_001308093.3(GATA4):c.27C>A (p.Ala9=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Congenital heart disease	GPathogenic
Select item 3280847	NM_001308093.3(GATA4):c.30C>T (p.Asn10=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1369253	NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys)	GATA4 (N10K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 934654	NM_001308093.3(GATA4):c.31C>A (p.His11Asn)	GATA4 (H11N)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2083586	NM_001308093.3(GATA4):c.32A>C (p.His11Pro)	GATA4 (H11P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2140097	NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp)	GATA4 (G12W)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 644697	NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg)	GATA4 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2162076	NM_001308093.3(GATA4):c.36G>A (p.Gly12=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 1691747	NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg)	GATA4 (P14R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 946748	NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)	GATA4	Deletion (inframe_deletion +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 1013870	NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser)	GATA4 (P15S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2505979	NM_001308093.3(GATA4):c.44C>A (p.Pro15His)	GATA4 (P15H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3221994	NM_001308093.3(GATA4):c.45C>T (p.Pro15=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2566795	NM_001308093.3(GATA4):c.51C>T (p.Ala17=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1452170	NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter)	GATA4 (Y18*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 1361119	NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter)	GATA4 (Y18*)	Single nucleotide variant (nonsense +1 more)	Atrioventricular septal defect 4	GPathogenic
Select item 1481834	NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys)	GATA4 (E19K)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 518873	NM_001308093.3(GATA4):c.62G>T (p.Gly21Val)	GATA4 (G21V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2784138	NM_001308093.3(GATA4):c.63C>G (p.Gly21=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 3098756	NM_001308093.3(GATA4):c.64G>A (p.Gly22Ser)	GATA4 (G22S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2174187	NM_001308093.3(GATA4):c.64G>T (p.Gly22Cys)	GATA4 (G22C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2807445	NM_001308093.3(GATA4):c.65G>T (p.Gly22Val)	GATA4 (G22V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2909470	NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)	GATA4 (P23S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1674845	NM_001308093.3(GATA4):c.69C>T (p.Pro23=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 3221998	NM_001308093.3(GATA4):c.70G>T (p.Gly24Cys)	GATA4 (G24C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2718117	NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser)	GATA4 (G24S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1912751	NM_001308093.3(GATA4):c.72C>T (p.Gly24=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 412728	NM_001308093.3(GATA4):c.72C>G (p.Gly24=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518676	NM_001308093.3(GATA4):c.76T>G (p.Phe26Val)	GATA4 (F26V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2136639	NM_001308093.3(GATA4):c.82C>T (p.His28Tyr)	GATA4 (H28Y)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1063646	NM_001308093.3(GATA4):c.83A>G (p.His28Arg)	GATA4 (H28R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2139760	NM_001308093.3(GATA4):c.84C>T (p.His28=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 3098757	NM_001308093.3(GATA4):c.85G>T (p.Gly29Cys)	GATA4 (G29C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1764007	NM_001308093.3(GATA4):c.85G>A (p.Gly29Ser)	GATA4 (G29S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2071518	NM_001308093.3(GATA4):c.89C>T (p.Ala30Val)	GATA4 (A30V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1630182	NM_001308093.3(GATA4):c.90G>A (p.Ala30=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1986774	NM_001308093.3(GATA4):c.93C>A (p.Gly31=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 599008	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	GATA4 (A32P)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect +11 more	GUncertain significance
Select item 518796	NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr)	GATA4 (A32T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1491303	NM_001308093.3(GATA4):c.98C>T (p.Ala33Val)	GATA4 (A33V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 220979	NM_001308093.3(GATA4):c.99G>T (p.Ala33=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GBenign/Likely benign
Select item 1304058	NM_001308093.3(GATA4):c.100T>A (p.Ser34Thr)	GATA4 (S34T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2452505	NM_001308093.3(GATA4):c.105G>T (p.Ser35=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2579496	NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser)	GATA4 (P36S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1095284	NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala)	GATA4 (P36A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 761387	NM_001308093.3(GATA4):c.111C>A (p.Val37=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 1197120	NM_001308093.3(GATA4):c.116T>G (p.Val39Gly)	GATA4 (V39G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632210	NM_001308093.3(GATA4):c.118C>T (p.Pro40Ser)	GATA4 (P40S)	Single nucleotide variant (missense variant +1 more)	GATA4-related disorder	GUncertain significance
Select item 1402632	NM_001308093.3(GATA4):c.124C>A (p.Pro42Thr)	GATA4 (P42T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 2818464	NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu)	GATA4 (P42L)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1026397	NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg)	GATA4 (P42R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1023172	NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln)	GATA4 (P42Q)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 699081	NM_001308093.3(GATA4):c.127C>A (p.Arg43=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 30107	NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp)	GATA4 (R43W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1668074	NM_001308093.3(GATA4):c.129G>A (p.Arg43=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 1106521	NM_001308093.3(GATA4):c.129G>T (p.Arg43=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
Select item 1313349	NM_001308093.3(GATA4):c.134C>T (p.Pro45Leu)	GATA4 (P45L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 472773	NM_001308093.3(GATA4):c.135C>G (p.Pro45=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
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 1474946	NM_001308093.3(GATA4):c.143T>C (p.Val48Ala)	GATA4 (V48A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1387786	NM_001308093.3(GATA4):c.143T>G (p.Val48Gly)	GATA4 (V48G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2172385	NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)	GATA4 (G50R)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 3253309	NM_001308093.3(GATA4):c.149G>A (p.Gly50Asp)	GATA4 (G50D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 950878	NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala)	GATA4 (G50A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4	GUncertain significance
Select item 1774155	NM_001308093.3(GATA4):c.150C>A (p.Gly50=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1990777	NM_001308093.3(GATA4):c.151C>T (p.Leu51=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign
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 3280849	NM_001308093.3(GATA4):c.156C>T (p.Ser52=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 1644970	NM_001308093.3(GATA4):c.159C>T (p.Tyr53=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +1 more	GLikely benign
Select item 3221985	NM_001308093.3(GATA4):c.168C>A (p.Gly56=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1306852	NM_001308093.3(GATA4):c.172G>A (p.Gly58Ser)	GATA4 (G58S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171686	NM_001308093.3(GATA4):c.174C>A (p.Gly58=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4	GLikely benign

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