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Links from MedGen

Items: 1 to 100 of 578

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA4
(R59H +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(V151L +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A178T)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(T278A +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G64E)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GLikely pathogenic
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(S67L)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(G150R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G69C)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Microsatellite
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A59T)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P23S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(S134G)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(P106R)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(G135V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(R151S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(R261W +2 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G60A)
Single nucleotide variant
(intron variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A139V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(P183L)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(V151F +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P307L +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(C296S +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GPathogenic
GATA4
(P42L)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(H186L +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(V12fs +2 more)
Microsatellite
(frameshift variant)
Atrioventricular septal defect 4
GPathogenic
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(G22V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A92E)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(F5del +2 more)
Deletion
(inframe_deletion)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(S379N +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G79A)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A123G)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(H392P +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(Q176E +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G185A +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A97V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(L122R +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A123P)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P101R +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GPathogenic
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A138V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P103A)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Duplication
(inframe_insertion +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(S61F)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(S212L +2 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(R230Q +2 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Deletion
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(D3V +2 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P87A)
Single nucleotide variant
(intron variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(G24S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(P136S +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(A167V)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
(G137*)
Single nucleotide variant
(nonsense +1 more)
Atrioventricular septal defect 4
GPathogenic
GATA4
(R284C +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(A74D)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
(S4N)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 4
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
GLikely benign
GATA4
(L155M +3 more)
Single nucleotide variant
(missense variant)
GATA4-related disorder
+1 more
GUncertain significance
GATA4
(P203S)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
GATA4
(P36S)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
+1 more
GUncertain significance
GATA4
(T277S +2 more)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 4
+1 more
GUncertain significance
GATA4
(G85C)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 4
+1 more
GLikely benign
GATA4
(V166L +3 more)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 4
+1 more
GUncertain significance
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
+1 more
GLikely benign
GATA4
Single nucleotide variant
(synonymous variant +1 more)
Atrioventricular septal defect 4
+1 more
GLikely benign
GATA4
(G112A)
Single nucleotide variant
(intron variant +1 more)
Atrioventricular septal defect 4
+1 more
GUncertain significance
GATA4
Duplication
Atrioventricular septal defect 4
GUncertain significance
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