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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFAP2B
(Y22*)
Single nucleotide variant
(nonsense)
Patent ductus arteriosus 2
GLikely pathogenic
TFAP2B
(V271L)
Single nucleotide variant
(missense variant)
Patent ductus arteriosus 2
+1 more
GUncertain significance
TFAP2B
(N434K)
Single nucleotide variant
(missense variant)
Char syndrome
+1 more
GUncertain significance
TFAP2B
(P147fs)
Microsatellite
(frameshift variant)
Patent ductus arteriosus 2
GPathogenic
TFAP2B
Single nucleotide variant
(splice acceptor variant)
Patent ductus arteriosus 2
GPathogenic
TFAP2B
Single nucleotide variant
(intron variant)
Patent ductus arteriosus 2
+1 more
GPathogenic
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