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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA6
(R456L)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(E68Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+4 more
GUncertain significance
GATA6
(L80fs)
Deletion
(frameshift variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GLikely pathogenic
GATA6
(G375fs)
Duplication
(frameshift variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(S266fs)
Deletion
(frameshift variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+4 more
GLikely benign
GATA6
(P87S)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+5 more
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+4 more
GConflicting classifications of pathogenicity
GATA6
(T123A)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+4 more
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+4 more
GLikely benign
GATA6
(L118F)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+3 more
GConflicting classifications of pathogenicity
GATA6
(S58G)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GUncertain significance
GATA6
(L78P)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+4 more
GUncertain significance
GATA6
(G280A)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+5 more
GUncertain significance
GATA6
(P555A)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+6 more
GConflicting classifications of pathogenicity
GATA6
(A575P)
Single nucleotide variant
(missense variant)
GATA6-related disorder
+4 more
GConflicting classifications of pathogenicity
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+7 more
GBenign/Likely benign
GATA6
(A459T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+5 more
GConflicting classifications of pathogenicity
GATA6
(Q363*)
Single nucleotide variant
(nonsense)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(V358fs)
Deletion
(frameshift variant)
Congenital diaphragmatic hernia
+1 more
GPathogenic
GATA6
(G238*)
Single nucleotide variant
(nonsense)
Congenital diaphragmatic hernia
+1 more
GPathogenic
GATA6
(K502fs)
Deletion
(frameshift variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(A467T)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(N466D)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(R456H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GATA6
(R456C)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
+3 more
GPathogenic
GATA6
(M483fs)
Deletion
(frameshift variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
GATA6
(T452A)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
GPathogenic
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