"GeneDx"[submitter] AND "GATA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 1249989	NM_001308094.2(GATA4):c.-6+2939A>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189580	NC_000008.11:g.11703892G>C	GATA4	Single nucleotide variant (intron variant)	not provided	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 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 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 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 2083586	NM_001308093.3(GATA4):c.32A>C (p.His11Pro)	GATA4 (H11P)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	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 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 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 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 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 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 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 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 1387786	NM_001308093.3(GATA4):c.143T>G (p.Val48Gly)	GATA4 (V48G)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +2 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 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 2503259	NM_001308093.3(GATA4):c.190G>C (p.Gly64Arg)	GATA4 (G64R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 664941	NM_001308093.3(GATA4):c.206G>T (p.Gly69Val)	GATA4 (G69V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1721099	NM_001308093.3(GATA4):c.218G>T (p.Gly73Val)	GATA4 (G73V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 2574991	NM_001308093.3(GATA4):c.220G>A (p.Ala74Thr)	GATA4 (A74T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 412738	NM_001308093.3(GATA4):c.246C>A (p.Thr82=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1312762	NM_001308093.3(GATA4):c.251_252delinsCC (p.Gln84Pro)	GATA4 (Q84P)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 937723	NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln)	GATA4 (P87Q)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 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 1311726	NM_001308093.3(GATA4):c.269G>C (p.Ser90Thr)	GATA4 (S90T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 859946	NM_001308093.3(GATA4):c.280G>A (p.Ala94Thr)	GATA4 (A94T)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1217867	NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala)	GATA4 (T100A)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +2 more	GUncertain significance
Select item 2430397	NM_001308093.3(GATA4):c.335G>C (p.Gly112Ala)	GATA4 (G112A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3369428	NM_001308093.3(GATA4):c.347C>G (p.Ser116Cys)	GATA4 (S116C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 239100	NM_001308093.3(GATA4):c.348C>T (p.Ser116=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
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 1314298	NM_001308093.3(GATA4):c.386C>T (p.Ala129Val)	GATA4 (A129V)	Single nucleotide variant (missense variant +1 more)	not provided	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 1200120	NM_001308093.3(GATA4):c.400A>T (p.Ser134Cys)	GATA4 (S134C)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +2 more	GUncertain significance
Select item 1473485	NM_001308093.3(GATA4):c.425G>T (p.Gly142Val)	GATA4 (G142V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2899161	NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)	GATA4 (R151S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 412733	NM_001308093.3(GATA4):c.462C>T (p.Phe154=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1304941	NM_001308093.3(GATA4):c.467G>T (p.Gly156Val)	GATA4 (G156V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2582078	NM_001308093.3(GATA4):c.476C>G (p.Ser159Cys)	GATA4 (S159C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 30099	NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	GATA4 (P163S)	Single nucleotide variant (missense variant +1 more)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more	GConflicting classifications of pathogenicity
Select item 639476	NM_001308093.3(GATA4):c.488C>G (p.Pro163Arg)	GATA4 (P163R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1025037	NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup)	GATA4	Duplication (inframe_insertion +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 412742	NM_001308093.3(GATA4):c.531C>A (p.Ala177=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 412729	NM_001308093.3(GATA4):c.543C>T (p.Ala181=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3369773	NM_001308093.3(GATA4):c.571_579dup (p.Pro193_Gly194insSerLeuPro)	GATA4	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 696086	NM_001308093.3(GATA4):c.585G>C (p.Arg195=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Atrioventricular septal defect 4 +2 more	GLikely benign
Select item 3372025	NM_001308093.3(GATA4):c.586G>T (p.Ala196Ser)	GATA4 (A196S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367568	NM_001308093.3(GATA4):c.590A>T (p.Asn197Ile)	GATA4 (N197I)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 956585	NM_001308093.3(GATA4):c.599C>T (p.Ala200Val)	GATA4 (A200V)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1212467	NM_001308093.3(GATA4):c.616+49C>G	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152005	GRCh38/hg38 8p23.1(chr8:11739235-11803434)x1	FDFT1, GATA4 +8 more	Copy number loss	See cases	GPathogenic
Select item 1244830	NM_001308093.3(GATA4):c.617-347G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214671	NM_001308093.3(GATA4):c.617-290T>G	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180219	NM_001308093.3(GATA4):c.617-284T>A	GATA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221150	NM_001308093.3(GATA4):c.617-273C>G	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 433016	NM_001308093.3(GATA4):c.617-113T>C	GATA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 433017	NM_001308093.3(GATA4):c.617-61G>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1311822	NM_001308093.3(GATA4):c.626T>C (p.Phe209Ser)	GATA4 (F208S +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 239101	NM_001308093.3(GATA4):c.630C>T (p.Asp210=)	GATA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1307486	NM_001308093.3(GATA4):c.640G>C (p.Glu214Gln)	GATA4 (E213Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3343265	NM_001308093.3(GATA4):c.658A>T (p.Asn220Tyr)	GATA4 (N13Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309640	NM_001308093.3(GATA4):c.659A>G (p.Asn220Ser)	GATA4 (N13S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363535	NM_001308093.3(GATA4):c.662G>A (p.Cys221Tyr)	GATA4 (C14Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370608	NM_001308093.3(GATA4):c.670A>T (p.Met224Leu)	GATA4 (M17L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305195	NM_001308093.3(GATA4):c.683T>C (p.Leu228Pro)	GATA4 (L21P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312163	NM_001308093.3(GATA4):c.701C>T (p.Thr234Met)	GATA4 (T233M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2446230	NM_001308093.3(GATA4):c.721G>A (p.Ala241Thr)	GATA4 (A240T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 264047	NM_001308093.3(GATA4):c.726C>T (p.Cys242=)	GATA4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3377909	NM_001308093.3(GATA4):c.734A>G (p.Tyr245Cys)	GATA4 (Y244C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178691	NM_001308093.3(GATA4):c.735C>T (p.Tyr245=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +3 more	GBenign/Likely benign
Select item 1309233	NM_001308093.3(GATA4):c.742A>G (p.Met248Val)	GATA4 (M247V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429335	NM_001308093.3(GATA4):c.743T>C (p.Met248Thr)	GATA4 (M247T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253021	NM_001308093.3(GATA4):c.763C>G (p.Leu255Val)	GATA4 (L254V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017884	NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln)	GATA4 (R260Q +2 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +1 more	GUncertain significance
Select item 1053517	NM_001308093.3(GATA4):c.784C>G (p.Leu262Val)	GATA4 (L261V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1276869	NM_001308093.3(GATA4):c.787-290C>T	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238893	NM_001308093.3(GATA4):c.787-268C>T	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268175	NM_001308093.3(GATA4):c.787-248T>C	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292365	NM_001308093.3(GATA4):c.787-243A>G	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298187	NM_001308093.3(GATA4):c.787-224G>A	GATA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1138267	NM_001308093.3(GATA4):c.789C>T (p.Ser263=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1057533	NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser)	GATA4 (A263S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3364142	NM_001308093.3(GATA4):c.802G>T (p.Val268Leu)	GATA4 (V267L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321571	NM_001308093.3(GATA4):c.802G>C (p.Val268Leu)	GATA4 (V267L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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