NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)Pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome|Abnormal cardiovascular system morphology;Congenital diaphragmatic hernia|not provided|Inborn genetic diseases|Atrioventricular septal defect 5
★★☆☆2025→ Residue 456
NM_005257.6(GATA6):c.1135+2T>CLikely pathogenic
Tetralogy of Fallot;Conotruncal heart malformations;Atrial septal defect 9;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome;Atrioventricular septal defect 5
★★☆☆2024
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)Pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome|not provided
★★☆☆2022→ Residue 456
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter)Pathogenic
Atrioventricular septal defect 5|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★★☆☆2022→ Residue 493
NM_005257.6(GATA6):c.1405G>A (p.Gly469Arg)Likely pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★☆☆☆2026→ Residue 469
NM_005257.6(GATA6):c.1486A>T (p.Lys496Ter)Pathogenic
Atrioventricular septal defect 5
★☆☆☆2025→ Residue 496
NM_005257.6(GATA6):c.1115_1122del (p.Val372fs)Likely pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★☆☆☆2025→ Residue 372
NM_005257.6(GATA6):c.1358C>A (p.Thr453Asn)Likely pathogenic
Neutropenia, severe congenital, 8, autosomal dominant|Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★☆☆☆2025→ Residue 453
NM_005257.6(GATA6):c.928del (p.Tyr310fs)Pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 310
NM_005257.6(GATA6):c.1481_1487del (p.Lys494fs)Pathogenic
not provided
★☆☆☆2025→ Residue 494
NM_005257.6(GATA6):c.1403G>A (p.Cys468Tyr)Likely pathogenic
not provided
★☆☆☆2025→ Residue 468
NM_005257.6(GATA6):c.1429-2A>GLikely pathogenic
Atrioventricular septal defect 5
★☆☆☆2025
NM_005257.6(GATA6):c.1151_1155del (p.Leu384fs)Pathogenic
Atrioventricular septal defect 5
★☆☆☆2025→ Residue 384
NM_005257.6(GATA6):c.1020C>G (p.Tyr340Ter)Pathogenic
Tetralogy of Fallot
★☆☆☆2024→ Residue 340
NM_005257.6(GATA6):c.1456_1468del (p.Glu486fs)Pathogenic
Atrioventricular septal defect 5
★☆☆☆2024→ Residue 486
NM_005257.6(GATA6):c.1104_1105insACGCTCCCGGTGCC (p.Pro369fs)Pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★☆☆☆2024→ Residue 369
NM_005257.6(GATA6):c.729_730del (p.Gly244fs)Pathogenic
Conotruncal heart malformations
★☆☆☆2023→ Residue 244
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)Pathogenic
Atrioventricular septal defect 5
★☆☆☆2023→ Residue 206
NM_005257.6(GATA6):c.701del (p.Pro234fs)Likely pathogenic
Primary dilated cardiomyopathy
★☆☆☆2023→ Residue 234
NM_005257.6(GATA6):c.148G>T (p.Gly50Ter)Likely pathogenic
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
★☆☆☆2023→ Residue 50