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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA4
(Y298C +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 2
GLikely pathogenic
GATA4
Deletion
(inframe_indel +1 more)
Atrial septal defect 2
GUncertain significance
GATA4
(M1T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
GATA4
(R230* +2 more)
Single nucleotide variant
(nonsense)
Ventricular septal defect 1
+1 more
GPathogenic
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
+5 more
GUncertain significance
GATA4
(T280S +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
GATA4
(P165A +3 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 2
+5 more
GUncertain significance
GATA4
(R284H +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
+3 more
GPathogenic/Likely pathogenic
GATA4
Single nucleotide variant
(intron variant)
Atrial septal defect 2
GUncertain significance
GATA4
(G189R +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
+1 more
GConflicting classifications of pathogenicity
GATA4
(R320W +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
+1 more
GConflicting classifications of pathogenicity
GATA4
(E313D +3 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 2
+6 more
GUncertain significance
GATA4
(G88V)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 2
+5 more
GUncertain significance
GATA4
(A131G)
Single nucleotide variant
(missense variant +1 more)
Tetralogy of Fallot
+5 more
GUncertain significance
GATA4
(D438N +3 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 2
+5 more
GUncertain significance
GATA4
(A411V +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
+7 more
GBenign/Likely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
GATA4
(M310V +3 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 2
GPathogenic
GATA4
(T280M +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P407Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GATA4
(G296C +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 2
GPathogenic
GATA4
(D425N +3 more)
Single nucleotide variant
(missense variant)
Pulmonary valve atresia
+8 more
GConflicting classifications of pathogenicity
GATA4
(Q316E +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(S52F)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 2
GPathogenic
GATA4
(E359fs +3 more)
Deletion
(frameshift variant)
Atrial septal defect 2
GPathogenic
GATA4
(G296S +2 more)
Single nucleotide variant
(missense variant +1 more)
Transposition of the great arteries
GPathogenic
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