"GeneReviews"[submitter] AND "TFAP2B"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8044	NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)	TFAP2B (P73R)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 21358	NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)	TFAP2B (D148E)	Single nucleotide variant (missense variant)	Char syndrome	Gnot provided
Select item 21359	NM_003221.4(TFAP2B):c.601+5G>A	TFAP2B	Single nucleotide variant (intron variant)	Char syndrome +1 more	GPathogenic
Select item 8042	NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser)	TFAP2B (R236S)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 8041	NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys)	TFAP2B (R236C)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 21360	NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala)	TFAP2B (S258A)	Single nucleotide variant (missense variant)	Char syndrome	Gnot provided
Select item 21361	NM_003221.4(TFAP2B):c.822-1G>C	TFAP2B	Single nucleotide variant (splice acceptor variant)	Char syndrome	Gnot provided
Select item 8039	NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)	TFAP2B (A275D)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 8043	NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)	TFAP2B (R285Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8040	NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)	TFAP2B (R300C)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic