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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP2
(E328K)
Single nucleotide variant
(missense variant)
Ventricular septal defect 1
GPathogenic
IRX4
(T191I +1 more)
Single nucleotide variant
(missense variant)
Ventricular septal defect 1
GPathogenic
IRX4
(S24N)
Single nucleotide variant
(missense variant)
Ventricular septal defect 1
GPathogenic
CRELD1
(H371N +1 more)
Single nucleotide variant
(missense variant +2 more)
Ventricular septal defect 1
GPathogenic
CRELD1
(G196V)
Single nucleotide variant
(missense variant +1 more)
Ventricular septal defect 1
GPathogenic
BMP7
(D85V)
Single nucleotide variant
(missense variant)
Ventricular septal defect 1
GPathogenic
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
(P165A +3 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 2
+5 more
GUncertain significance
GATA4
(M104L +3 more)
Single nucleotide variant
(missense variant)
Ventricular septal defect 1
+3 more
GUncertain significance
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
BMP2
(S37A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
GATA4
(R43W)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
GATA4
(G296R +2 more)
Single nucleotide variant
(missense variant +1 more)
Ventricular septal defect 1
GPathogenic
GATA4
(P407Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
GATA4
(A442V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATA4
(E359K +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P163S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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