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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TFAP2B
(P73R)
Single nucleotide variant
(missense variant)
Char syndrome
GPathogenic
TFAP2B
(D148E)
Single nucleotide variant
(missense variant)
Char syndrome
Gnot provided
TFAP2B
Single nucleotide variant
(intron variant)
Patent ductus arteriosus 2
+1 more
GPathogenic
TFAP2B
(R236S)
Single nucleotide variant
(missense variant)
Char syndrome
GPathogenic
TFAP2B
(R236C)
Single nucleotide variant
(missense variant)
Char syndrome
GPathogenic
TFAP2B
(S258A)
Single nucleotide variant
(missense variant)
Char syndrome
Gnot provided
TFAP2B
Single nucleotide variant
(splice acceptor variant)
Char syndrome
Gnot provided
TFAP2B
(A275D)
Single nucleotide variant
(missense variant)
Char syndrome
GPathogenic
TFAP2B
(R285Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TFAP2B
(R300C)
Single nucleotide variant
(missense variant)
Char syndrome
GPathogenic
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