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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA6
(E68Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+4 more
GUncertain significance
GATA6
(H448Y)
Single nucleotide variant
(missense variant)
Atrial septal defect 9
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+4 more
GLikely benign
GATA6
(P87S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+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
(G236C)
Single nucleotide variant
(missense variant)
Tetralogy of Fallot
+2 more
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
+4 more
GLikely benign
GATA6
(L78P)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+4 more
GUncertain significance
GATA6
(G280A)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
+5 more
GUncertain significance
GATA6
(Q363H)
Single nucleotide variant
(missense variant)
Atrial septal defect 9
+1 more
GUncertain significance
GATA6
(P555A)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
+6 more
GConflicting classifications of pathogenicity
GATA6
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign/Likely benign
GATA6
(S184N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
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