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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR2F2
(N229fs +2 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 4
GLikely pathogenic
NR2F2
(T193fs +2 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(I206L +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
CRELD1
(R260L +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GPathogenic
CRELD1
(W75R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
(L212H +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(K187fs +2 more)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 4
GLikely pathogenic
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(S68N)
Single nucleotide variant
(intron variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(A259S +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(P32R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
+1 more
GUncertain significance
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(R187fs +2 more)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 4
GLikely pathogenic
NR2F2
(L140F)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
BMP7
(R175W)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(intron variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Duplication
(intron variant)
Congenital heart defects, multiple types, 4
GBenign
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(intron variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(intron variant)
Congenital heart defects, multiple types, 4
GBenign
NR2F2
(G27R +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(Q69* +2 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
Duplication
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(P231T +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
XIRP2
(F1029I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(intron variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(H90R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
+1 more
GUncertain significance
NR2F2
(R75W +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(T7A)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(F103L)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(V91D +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(A2S)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(V181L +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(P33fs)
Deletion
(frameshift variant +1 more)
Congenital heart defects, multiple types, 4
+1 more
GPathogenic
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(K163N +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(Q73*)
Single nucleotide variant
(nonsense +1 more)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
(L363I +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
(S68R)
Single nucleotide variant
(missense variant +1 more)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
(W249* +2 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
Copy number loss
Congenital heart defects, multiple types, 4
GLikely pathogenic
NR2F2
(V29fs)
Duplication
(frameshift variant +1 more)
Congenital heart defects, multiple types, 4
GLikely pathogenic
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
+1 more
GBenign/Likely benign
NR2F2
(G83*)
Single nucleotide variant
(nonsense +1 more)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
Single nucleotide variant
(synonymous variant)
Congenital heart defects, multiple types, 4
+1 more
GBenign
NR2F2
(V133fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
NR2F2
(Q104* +2 more)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 4
GUncertain significance
NR2F2
Single nucleotide variant
(synonymous variant +1 more)
Congenital heart defects, multiple types, 4
GLikely benign
NR2F2
Single nucleotide variant
(splice donor variant)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
Microsatellite
(inframe_insertion +1 more)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
(N205I +2 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 4
GPathogenic
NR2F2
(S341Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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