ClinVar for MedGen (Select 358356) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065368	NM_003221.4(TFAP2B):c.540+7ACAA[3]	TFAP2B	Microsatellite (intron variant)	Char syndrome	GUncertain significance
Select item 2627564	NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)	TFAP2B (C327*)	Single nucleotide variant (nonsense)	Char syndrome	GLikely pathogenic
Select item 2580212	NM_003221.4(TFAP2B):c.541-3_541-2del	TFAP2B	Microsatellite (splice acceptor variant)	Char syndrome	GUncertain significance
Select item 2572520	NM_003221.4(TFAP2B):c.805G>A (p.Gly269Ser)	TFAP2B (G269S)	Single nucleotide variant (missense variant)	Char syndrome	GUncertain significance
Select item 2502263	NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)	TFAP2B (V271L)	Single nucleotide variant (missense variant)	Patent ductus arteriosus 2 +1 more	GUncertain significance
Select item 1803831	NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys)	TFAP2B (N434K)	Single nucleotide variant (missense variant)	Char syndrome +1 more	GUncertain significance
Select item 1326927	NM_003221.4(TFAP2B):c.707G>A (p.Arg236His)	TFAP2B (R236H)	Single nucleotide variant (missense variant)	Char syndrome	GLikely pathogenic
Select item 1273651	NM_003221.3(TFAP2B):c.-34G>A	TFAP2B	Single nucleotide variant (genic upstream transcript variant)	Char syndrome +1 more	GBenign
Select item 1028094	NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His)	TFAP2B (D369H)	Single nucleotide variant (missense variant)	Char syndrome	GUncertain significance
Select item 599234	NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)	TFAP2B (T306M)	Single nucleotide variant (missense variant)	Char syndrome	GUncertain significance
Select item 599040	NM_003221.4(TFAP2B):c.650del (p.Gly217fs)	TFAP2B (G217fs)	Deletion (frameshift variant)	Char syndrome	GPathogenic
Select item 374174	NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)	TFAP2B (S277W)	Single nucleotide variant (missense variant)	Char syndrome +5 more	GUncertain significance
Select item 369566	NM_003221.3(TFAP2B):c.*4228G>T	TFAP2B	Single nucleotide variant	Char syndrome	GBenign
Select item 357354	NM_003221.4(TFAP2B):c.*4213GT[1]	TFAP2B	Microsatellite (3 prime UTR variant)	Char syndrome	GLikely benign
Select item 357322	NM_003221.4(TFAP2B):c.*1938dup	TFAP2B	Duplication (3 prime UTR variant)	Char syndrome	GLikely benign
Select item 357314	NM_003221.4(TFAP2B):c.*1644del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357313	NM_003221.4(TFAP2B):c.*1427del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357305	NM_003221.4(TFAP2B):c.912_916del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357304	NM_003221.4(TFAP2B):c.*912CA[5]	TFAP2B	Microsatellite (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357303	NM_003221.4(TFAP2B):c.*912CA[6]	TFAP2B	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357302	NM_003221.4(TFAP2B):c.910_911insC	TFAP2B	Insertion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357301	NM_003221.4(TFAP2B):c.*912CA[8]	TFAP2B	Microsatellite (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357300	NM_003221.4(TFAP2B):c.911_915del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357299	NM_003221.4(TFAP2B):c.910_911del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome	GUncertain significance
Select item 357298	NM_003221.4(TFAP2B):c.*911del	TFAP2B	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 357289	NM_003221.4(TFAP2B):c.135_136del	TFAP2B	Deletion (3 prime UTR variant)	Char syndrome +1 more	GUncertain significance
Select item 357287	NM_003221.4(TFAP2B):c.*15AAG[1]	TFAP2B	Microsatellite (3 prime UTR variant)	Char syndrome	GLikely benign
Select item 357277	NM_003221.4(TFAP2B):c.540+7ACAA[7]	TFAP2B	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258985	NM_003221.4(TFAP2B):c.540+7ACAA[5]	TFAP2B	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 21361	NM_003221.4(TFAP2B):c.822-1G>C	TFAP2B	Single nucleotide variant (splice acceptor variant)	Char syndrome	Gnot provided
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 21359	NM_003221.4(TFAP2B):c.601+5G>A	TFAP2B	Single nucleotide variant (intron variant)	Patent ductus arteriosus 2 +1 more	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 8044	NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)	TFAP2B (P73R)	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 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 8040	NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)	TFAP2B (R300C)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 8039	NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)	TFAP2B (A275D)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic

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Items: 39