"GeneDx"[submitter] AND "GATA6"[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 1186949	NM_005257.6(GATA6):c.-37-259C>T	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181955	NM_005257.6(GATA6):c.-37-38G>C	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3369125	NM_005257.6(GATA6):c.-1G>A	GATA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 129134	NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)	GATA6 (G15R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2060220	NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)	GATA6 (A19E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 696465	NM_005257.6(GATA6):c.62C>G (p.Ala21Gly)	GATA6 (A21G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2662506	NM_005257.6(GATA6):c.66C>A (p.Ser22Arg)	GATA6 (S22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311071	NM_005257.6(GATA6):c.155G>A (p.Arg52Gln)	GATA6 (R52Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240130	NM_005257.6(GATA6):c.222G>A (p.Pro74=)	GATA6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 412721	NM_005257.6(GATA6):c.237G>C (p.Leu79=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +1 more	GLikely benign
Select item 1311036	NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)	GATA6 (P87S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +5 more	GUncertain significance
Select item 404061	NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)	GATA6 (P91S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3252319	NM_005257.6(GATA6):c.287C>T (p.Ala96Val)	GATA6 (A96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683904	NM_005257.6(GATA6):c.319T>C (p.Ser107Pro)	GATA6 (S107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 572520	NM_005257.6(GATA6):c.352C>T (p.Leu118Phe)	GATA6 (L118F)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +3 more	GConflicting classifications of pathogenicity
Select item 1411980	NM_005257.6(GATA6):c.364G>T (p.Ala122Ser)	GATA6 (A122S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 3364128	NM_005257.6(GATA6):c.433GAG[1] (p.Glu146del)	GATA6 (E146del)	Microsatellite	not provided	GUncertain significance
Select item 3372681	NM_005257.6(GATA6):c.442T>C (p.Tyr148His)	GATA6 (Y148H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252727	NM_005257.6(GATA6):c.446A>C (p.Gln149Pro)	GATA6 (Q149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024771	NM_005257.6(GATA6):c.503G>A (p.Gly168Asp)	GATA6 (G168D)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 1445025	NM_005257.6(GATA6):c.508G>A (p.Val170Met)	GATA6 (V170M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1416988	NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del)	GATA6	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 30209	NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	GATA6 (A178V)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign
Select item 3364946	NM_005257.6(GATA6):c.536C>G (p.Ala179Gly)	GATA6 (A179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30210	NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	GATA6 (S184N)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GBenign/Likely benign
Select item 30208	NM_005257.6(GATA6):c.592C>G (p.Leu198Val)	GATA6 (L198V)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +2 more	GConflicting classifications of pathogenicity
Select item 2775458	NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)	GATA6 (S208T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 2574817	NM_005257.6(GATA6):c.655G>T (p.Ala219Ser)	GATA6 (A219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371568	NM_005257.6(GATA6):c.667C>T (p.Pro223Ser)	GATA6 (P223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500432	NM_005257.6(GATA6):c.675G>T (p.Trp225Cys)	GATA6 (W225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343129	NM_005257.6(GATA6):c.685T>A (p.Ser229Thr)	GATA6 (S229T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407653	NM_005257.6(GATA6):c.686C>G (p.Ser229Trp)	GATA6 (S229W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311091	NM_005257.6(GATA6):c.689C>T (p.Ala230Val)	GATA6 (A230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503143	NM_005257.6(GATA6):c.696C>G (p.Ser232Arg)	GATA6 (S232R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857098	NM_005257.6(GATA6):c.706G>T (p.Gly236Cys)	GATA6 (G236C)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +3 more	GUncertain significance
Select item 1315292	NM_005257.6(GATA6):c.723_755del (p.Ala242_Ala252del)	GATA6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3369718	NM_005257.6(GATA6):c.733G>T (p.Gly245Trp)	GATA6 (G245W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540140	NM_005257.6(GATA6):c.750C>A (p.Gly250=)	GATA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3371120	NM_005257.6(GATA6):c.770C>A (p.Ala257Glu)	GATA6 (A257E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428836	NM_005257.6(GATA6):c.782C>A (p.Ala261Glu)	GATA6 (A261E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 540131	NM_005257.6(GATA6):c.839G>C (p.Gly280Ala)	GATA6 (G280A)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +5 more	GUncertain significance
Select item 1314118	NM_005257.6(GATA6):c.851C>A (p.Ala284Glu)	GATA6 (A284E)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 129135	NM_005257.6(GATA6):c.851C>G (p.Ala284Gly)	GATA6 (A284G)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GBenign/Likely benign
Select item 472918	NM_005257.6(GATA6):c.855G>T (p.Ala285=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +1 more	GLikely benign
Select item 3368514	NM_005257.6(GATA6):c.875G>C (p.Gly292Ala)	GATA6 (G292A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343651	NM_005257.6(GATA6):c.895_918dup (p.Arg306_Glu307insSerLeuAlaAlaMetGlyGlyArg)	GATA6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 452132	NM_005257.6(GATA6):c.898C>G (p.Leu300Val)	GATA6 (L300V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373636	NM_005257.6(GATA6):c.919G>C (p.Glu307Gln)	GATA6 (E307Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524082	NM_005257.6(GATA6):c.925del (p.Gln309fs)	GATA6 (Q309fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1313904	NM_005257.6(GATA6):c.941C>G (p.Ser314Trp)	GATA6 (S314W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253533	NM_005257.6(GATA6):c.950G>T (p.Arg317Leu)	GATA6 (R317L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722850	NM_005257.6(GATA6):c.953C>A (p.Pro318Gln)	GATA6 (P318Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 404060	NM_005257.6(GATA6):c.969CCA[11] (p.His333dup)	GATA6	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 835877	NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del)	GATA6	Microsatellite (inframe_deletion)	Atrioventricular septal defect 5 +1 more	GConflicting classifications of pathogenicity
Select item 129132	NM_005257.6(GATA6):c.969CCA[9] (p.His333del)	GATA6 (H333del)	Microsatellite (inframe_deletion)	Atrioventricular septal defect 5 +2 more	GBenign/Likely benign
Select item 1217081	NM_005257.6(GATA6):c.1009T>C (p.Tyr337His)	GATA6 (Y337H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366035	NM_005257.6(GATA6):c.1013C>G (p.Ser338Trp)	GATA6 (S338W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904137	NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)	GATA6 (V341L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 648863	NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr)	GATA6 (A343T)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +2 more	GUncertain significance
Select item 546565	NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser)	GATA6 (P344S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 818043	NM_005257.6(GATA6):c.1070del (p.Pro357fs)	GATA6 (P357fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2766251	NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)	GATA6 (G367R)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 412725	NM_005257.6(GATA6):c.1135+9C>G	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5 +1 more	GBenign/Likely benign
Select item 1193280	NM_005257.6(GATA6):c.1136-296G>T	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190234	NM_005257.6(GATA6):c.1136-26G>A	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635908	NM_005257.6(GATA6):c.1136-3C>A	GATA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1704973	NM_005257.6(GATA6):c.1242C>A (p.Cys414Ter)	GATA6 (C414*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1168529	NM_005257.6(GATA6):c.1302+20C>T	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5 +2 more	GBenign
Select item 1198415	NM_005257.6(GATA6):c.1302+149G>C	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 472911	NM_005257.6(GATA6):c.1350A>G (p.Thr450=)	GATA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 30213	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)	GATA6 (R456C)	Single nucleotide variant (missense variant)	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +3 more	GPathogenic
Select item 211064	NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)	GATA6 (A459T)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 2579548	NM_005257.6(GATA6):c.1378G>T (p.Glu460Ter)	GATA6 (E460*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 30216	NM_005257.6(GATA6):c.1399G>A (p.Ala467Thr)	GATA6 (A467T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390252	NM_005257.6(GATA6):c.1428+5G>A	GATA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1208459	NM_005257.6(GATA6):c.1428+217C>A	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281234	NM_005257.6(GATA6):c.1428+307GT[2]	GATA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1288776	NM_005257.6(GATA6):c.1429-210G>A	GATA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197107	NM_005257.6(GATA6):c.1429-111C>T	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574532	NM_005257.6(GATA6):c.1435A>G (p.Arg479Gly)	GATA6 (R479G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1390371	NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro)	GATA6 (S505P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1303683	NM_005257.6(GATA6):c.1579A>T (p.Ser527Cys)	GATA6 (S527C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371395	NM_005257.6(GATA6):c.1586A>T (p.Asn529Ile)	GATA6 (N529I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 240128	NM_005257.6(GATA6):c.1602A>G (p.Thr534=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +1 more	GBenign
Select item 240129	NM_005257.6(GATA6):c.1605A>G (p.Gln535=)	GATA6	Single nucleotide variant (synonymous variant)	Neonatal insulin-dependent diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 697311	NM_005257.6(GATA6):c.1620+6T>C	GATA6	Single nucleotide variant (intron variant)	Atrioventricular septal defect 5 +1 more	GBenign/Likely benign
Select item 1191987	NM_005257.6(GATA6):c.1620+283T>C	GATA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298077	NM_005257.6(GATA6):c.1621-90=	GATA6	Deletion (intron variant)	not provided	GBenign
Select item 3253041	NM_005257.6(GATA6):c.1646_1666del (p.Ala549_Pro555del)	GATA6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 412726	NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)	GATA6 (P555A)	Single nucleotide variant (missense variant)	Atrial septal defect 9 +6 more	GConflicting classifications of pathogenicity
Select item 582510	NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu)	GATA6 (R585L)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +1 more	GUncertain significance
Select item 1186597	NM_005257.6(GATA6):c.*41C>T	GATA6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1296330	NM_005257.6(GATA6):c.*72G>A	GATA6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227720	NM_005257.6(GATA6):c.*77A>G	GATA6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 3359945	NM_005257.6(GATA6):c.1700G>A (p.Gly567Glu)	GATA6 (G567E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 98