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Links from MedGen

Items: 1 to 100 of 458

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA6
(D525E)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(P334S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(R438Q)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(Q309R)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(S563W)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(M546I)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(G250V)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(Y310S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(I498V)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G7S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(V341L)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Deletion
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(A316P)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G164S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Duplication
(inframe_insertion)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(A152S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(G224S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(A213T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(S47C)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G540R)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(S43C)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(Q206*)
Single nucleotide variant
(nonsense)
Atrioventricular septal defect 5
GPathogenic
GATA6
(S45F)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(I39T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(S260L)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(S208T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(A575S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(A216T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(A228T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(G367R)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(P54A)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(A261V)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G297R)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(M1K)
Single nucleotide variant
(missense variant +1 more)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Insertion
(inframe_indel)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(S43Y)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G296C)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(T406S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(V545E)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(V545G)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(P308H)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(K496N)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(G461V)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(P357L)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Microsatellite
(inframe_insertion)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(E68Q)
Single nucleotide variant
(missense variant)
Conotruncal heart malformations
+4 more
GUncertain significance
GATA6, MIB1
+2 more
Duplication
Atrioventricular septal defect 5
GUncertain significance
GATA6
Duplication
Atrioventricular septal defect 5
GUncertain significance
GATA6
(P144R)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(A182G)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(N510S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(intron variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(E51*)
Single nucleotide variant
(nonsense)
Atrioventricular septal defect 5
+1 more
GConflicting classifications of pathogenicity
GATA6
Microsatellite
(inframe_deletion)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(G289D)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(N554H)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Deletion
(inframe_deletion)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(P159S)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
(T356P)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
GATA6
(A134T)
Single nucleotide variant
(missense variant)
Atrioventricular septal defect 5
GUncertain significance
GATA6
Single nucleotide variant
(synonymous variant)
Atrioventricular septal defect 5
GLikely benign
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