ClinVar for MedGen (Select 860891) - ClinVar

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Items: 24

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25730541.	NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu) GRCh37: Chr18:19761478 GRCh38: Chr18:22181517	GATA6	R456L	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 25000382.	NM_005257.6(GATA6):c.202G>C (p.Glu68Gln) GRCh37: Chr18:19751307 GRCh38: Chr18:22171346	GATA6	E68Q	Conotruncal heart malformations, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Tetralogy of Fallot, Atrioventricular septal defect 5, Atrial septal defect 9	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24459203.	NM_005257.6(GATA6):c.239_245del (p.Leu80fs) GRCh37: Chr18:19751343-19751349 GRCh38: Chr18:22171382-22171388	GATA6	L80fs	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Likely pathogenic (Feb 20, 2023)	criteria provided, single submitter
Select item 18058324.	NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs) GRCh37: Chr18:19752206-19752207 GRCh38: Chr18:22172245-22172246	GATA6	G375fs	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Jul 2, 2020)	criteria provided, single submitter
Select item 17111845.	NM_005257.6(GATA6):c.795del (p.Ser266fs) GRCh37: Chr18:19751900 GRCh38: Chr18:22171939	GATA6	S266fs	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Jul 31, 2020)	no assertion criteria provided
Select item 15831276.	NM_005257.6(GATA6):c.525G>T (p.Ala175=) GRCh37: Chr18:19751630 GRCh38: Chr18:22171669	GATA6		Tetralogy of Fallot, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Conotruncal heart malformations, Atrioventricular septal defect 5, Atrial septal defect 9, Atrioventricular septal defect 5	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13110367.	NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) GRCh37: Chr18:19751364 GRCh38: Chr18:22171403	GATA6	P87S	Atrioventricular septal defect 5, not provided, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Tetralogy of Fallot, Conotruncal heart malformations, Atrial septal defect 9, Atrioventricular septal defect 5	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9998158.	NM_005257.6(GATA6):c.660C>T (p.Gly220=) GRCh37: Chr18:19751765 GRCh38: Chr18:22171804	GATA6		Conotruncal heart malformations, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Tetralogy of Fallot, Atrioventricular septal defect 5, Atrial septal defect 9, Atrioventricular septal defect 5	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 8633289.	NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) GRCh37: Chr18:19751472 GRCh38: Chr18:22171511	GATA6	T123A	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Tetralogy of Fallot, Atrioventricular septal defect 5, Atrial septal defect 9, Conotruncal heart malformations, Atrioventricular septal defect 5	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70034210.	NM_005257.6(GATA6):c.735G>A (p.Gly245=) GRCh37: Chr18:19751840 GRCh38: Chr18:22171879	GATA6		Atrioventricular septal defect 5, Conotruncal heart malformations, Atrioventricular septal defect 5, Atrial septal defect 9, Tetralogy of Fallot, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54013411.	NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) GRCh37: Chr18:19751338 GRCh38: Chr18:22171377	GATA6	L78P	Atrioventricular septal defect 5, Atrioventricular septal defect 5, Atrial septal defect 9, Tetralogy of Fallot, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Conotruncal heart malformations	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54013112.	NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) GRCh37: Chr18:19751944 GRCh38: Chr18:22171983	GATA6	G280A	Atrioventricular septal defect 5, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Conotruncal heart malformations, Tetralogy of Fallot, Atrioventricular septal defect 5, Atrial septal defect 9, not provided	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41272613.	NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) GRCh37: Chr18:19780661 GRCh38: Chr18:22200698	GATA6	P555A	Inborn genetic diseases, not provided, Conotruncal heart malformations, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Tetralogy of Fallot, Atrioventricular septal defect 5, Atrial septal defect 9, Atrioventricular septal defect 5	Conflicting interpretations of pathogenicity (Sep 30, 2022)	criteria provided, conflicting interpretations
Select item 24012714.	NM_005257.6(GATA6):c.1374C>T (p.Asn458=) GRCh37: Chr18:19761485 GRCh38: Chr18:22181524	GATA6		Conotruncal heart malformations, Tetralogy of Fallot, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Atrioventricular septal defect 5, Atrial septal defect 9, not specified, Atrioventricular septal defect 5	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21106315.	NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter) GRCh37: Chr18:19752192 GRCh38: Chr18:22172231	GATA6	Q363*	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Oct 29, 2014)	criteria provided, single submitter
Select item 15601116.	NM_005257.6(GATA6):c.1072del (p.Val358fs) GRCh37: Chr18:19752176 GRCh38: Chr18:22172215	GATA6	V358fs	Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jan 24, 2014)	criteria provided, single submitter
Select item 15601017.	NM_005257.6(GATA6):c.712G>T (p.Gly238Ter) GRCh37: Chr18:19751817 GRCh38: Chr18:22171856	GATA6	G238*	Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jan 24, 2014)	criteria provided, single submitter
Select item 3984418.	NM_005257.6(GATA6):c.1504_1505del (p.Lys502fs) GRCh37: Chr18:19762792-19762793 GRCh38: Chr18:22182831-22182832	GATA6	K502fs	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Oct 1, 2012)	no assertion criteria provided
Select item 3021619.	NM_005257.6(GATA6):c.1399G>A (p.Ala467Thr) GRCh37: Chr18:19761510 GRCh38: Chr18:22181549	GATA6	A467T	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Dec 11, 2011)	no assertion criteria provided
Select item 3021520.	NM_005257.6(GATA6):c.1396A>G (p.Asn466Asp) GRCh37: Chr18:19761507 GRCh38: Chr18:22181546	GATA6	N466D	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Dec 11, 2011)	no assertion criteria provided
Select item 3021421.	NM_005257.6(GATA6):c.1367G>A (p.Arg456His) GRCh37: Chr18:19761478 GRCh38: Chr18:22181517	GATA6	R456H	not provided, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic/Likely pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3021322.	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys) GRCh37: Chr18:19761477 GRCh38: Chr18:22181516	GATA6	R456C	not provided, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormality of cardiovascular system morphology, Congenital diaphragmatic hernia	Pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3021223.	NM_005257.6(GATA6):c.1448_1455del (p.Met483fs) GRCh37: Chr18:19762736-19762743 GRCh38: Chr18:22182775-22182782	GATA6	M483fs	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Dec 11, 2011)	no assertion criteria provided
Select item 3021124.	NM_005257.6(GATA6):c.1354A>G (p.Thr452Ala) GRCh37: Chr18:19761465 GRCh38: Chr18:22181504	GATA6	T452A	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Pathogenic (Dec 11, 2011)	no assertion criteria provided

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Items: 24