TFAP2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	ADGRF1, ADGRF2 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	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 1344682	NM_003221.4(TFAP2B):c.3G>A (p.Met1Ile)	TFAP2B (M1I)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome	GLikely pathogenic
Select item 357272	NM_003221.4(TFAP2B):c.48T>G (p.Leu16=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065996	NM_003221.4(TFAP2B):c.66C>G (p.Tyr22Ter)	TFAP2B (Y22*)	Single nucleotide variant (nonsense)	Patent ductus arteriosus 2	GLikely pathogenic
Select item 748066	NM_003221.4(TFAP2B):c.82-10C>G	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 746541	NM_003221.4(TFAP2B):c.82-4C>A	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902961	NM_003221.4(TFAP2B):c.90C>T (p.His30=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360116	NM_003221.4(TFAP2B):c.92A>G (p.Asp31Gly)	TFAP2B (D31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706228	NM_003221.4(TFAP2B):c.97G>A (p.Val33Ile)	TFAP2B (V33I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935893	NM_003221.4(TFAP2B):c.116G>C (p.Arg39Pro)	TFAP2B (R39P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037790	NM_003221.4(TFAP2B):c.117G>A (p.Arg39=)	TFAP2B	Single nucleotide variant (synonymous variant)	TFAP2B-related condition	GLikely benign
Select item 2973559	NM_003221.4(TFAP2B):c.120C>G (p.Leu40=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418292	NM_003221.4(TFAP2B):c.161C>G (p.Ala54Gly)	TFAP2B (A54G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2814355	NM_003221.4(TFAP2B):c.167C>A (p.Pro56Gln)	TFAP2B (P56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312414	NM_003221.4(TFAP2B):c.179C>A (p.Thr60Asn)	TFAP2B (T60N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304203	NM_003221.4(TFAP2B):c.199C>T (p.Pro67Ser)	TFAP2B (P67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480273	NM_003221.4(TFAP2B):c.203C>T (p.Pro68Leu)	TFAP2B (P68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8044	NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)	TFAP2B (P73R)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
Select item 357273	NM_003221.4(TFAP2B):c.252C>T (p.Asp84=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2506686	NM_003221.4(TFAP2B):c.256T>A (p.Tyr86Asn)	TFAP2B (Y86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176512	NM_003221.4(TFAP2B):c.276dup (p.Tyr93fs)	TFAP2B (Y93fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2889017	NM_003221.4(TFAP2B):c.393G>C (p.Gln131His)	TFAP2B (Q131H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442627	NM_003221.4(TFAP2B):c.408C>A (p.Asp136Glu)	TFAP2B (D136E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108591	NM_003221.4(TFAP2B):c.408C>G (p.Asp136Glu)	TFAP2B (D136E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977011	NM_003221.4(TFAP2B):c.418G>C (p.Asp140His)	TFAP2B (D140H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898280	NM_003221.4(TFAP2B):c.429G>T (p.Ser143=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 243019	NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs)	TFAP2B (P147fs)	Microsatellite (frameshift variant)	Patent ductus arteriosus 2	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 2556042	NM_003221.4(TFAP2B):c.445G>T (p.Val149Leu)	TFAP2B (V149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981598	NM_003221.4(TFAP2B):c.477C>T (p.Asp159=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 357276	NM_003221.4(TFAP2B):c.522C>G (p.Pro174=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898532	NM_003221.4(TFAP2B):c.537C>T (p.Val179=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314941	NM_003221.4(TFAP2B):c.540G>A (p.Gln180=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 3065368	NM_003221.4(TFAP2B):c.540+7ACAA[3]	TFAP2B	Microsatellite (intron variant)	Char syndrome	GUncertain significance
Select item 1608032	NM_003221.4(TFAP2B):c.540+7ACAA[4]	TFAP2B	Microsatellite (intron variant)	not provided	GBenign
Select item 258985	NM_003221.4(TFAP2B):c.540+7ACAA[5]	TFAP2B	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 258984	NM_003221.4(TFAP2B):c.540+10A>G	TFAP2B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1269905	NM_003221.4(TFAP2B):c.540+14A>G	TFAP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235099	NM_003221.4(TFAP2B):c.540+62G>C	TFAP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580212	NM_003221.4(TFAP2B):c.541-3_541-2del	TFAP2B	Microsatellite (splice acceptor variant)	Char syndrome	GUncertain significance
Select item 545952	NM_003221.3(TFAP2B):c.542_545delCAGT	TFAP2B	Microsatellite	not provided	GUncertain significance
Select item 243018	NM_003221.4(TFAP2B):c.541-2A>T	TFAP2B	Single nucleotide variant (splice acceptor variant)	Patent ductus arteriosus 2	GPathogenic
Select item 2581660	NM_003221.4(TFAP2B):c.545T>C (p.Val182Ala)	TFAP2B (V182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081007	NM_003221.4(TFAP2B):c.562A>G (p.Ser188Gly)	TFAP2B (S188G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2579464	NM_003221.4(TFAP2B):c.563G>A (p.Ser188Asn)	TFAP2B (S188N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576106	NM_003221.4(TFAP2B):c.595A>T (p.Lys199Ter)	TFAP2B (K199*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2284052	NM_003221.4(TFAP2B):c.601+1G>A	TFAP2B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1344683	NM_003221.4(TFAP2B):c.601+2T>A	TFAP2B	Single nucleotide variant (splice donor variant)	Craniosynostosis syndrome	GLikely pathogenic
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 1937411	NM_003221.4(TFAP2B):c.601+15C>T	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244657	NM_003221.4(TFAP2B):c.601+242A>G	TFAP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683496	NM_003221.4(TFAP2B):c.602-5_606del	TFAP2B	Deletion (splice acceptor variant)	Chronic intestinal pseudoobstruction	GPathogenic
Select item 1303583	NM_003221.4(TFAP2B):c.613C>T (p.Pro205Ser)	TFAP2B (P205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791697	NM_003221.4(TFAP2B):c.640A>G (p.Asn214Asp)	TFAP2B (N214D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599040	NM_003221.4(TFAP2B):c.650del (p.Gly217fs)	TFAP2B (G217fs)	Deletion (frameshift variant)	Char syndrome	GPathogenic
Select item 2136297	NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile)	TFAP2B (V224I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307411	NM_003221.4(TFAP2B):c.691T>C (p.Cys231Arg)	TFAP2B (C231R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1326927	NM_003221.4(TFAP2B):c.707G>A (p.Arg236His)	TFAP2B (R236H)	Single nucleotide variant (missense variant)	Char syndrome	GLikely pathogenic
Select item 1549642	NM_003221.4(TFAP2B):c.720C>G (p.Leu240=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580390	NM_003221.4(TFAP2B):c.757G>T (p.Val253Phe)	TFAP2B (V253F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2082520	NM_003221.4(TFAP2B):c.801C>T (p.Leu267=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2969032	NM_003221.4(TFAP2B):c.821+13C>T	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904955	NM_003221.4(TFAP2B):c.821+15AAAAAC[2]	TFAP2B	Microsatellite (intron variant)	not provided	GLikely benign
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 1344684	NM_003221.4(TFAP2B):c.827A>G (p.Lys276Arg)	TFAP2B (K276R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GLikely pathogenic
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 3003446	NM_003221.4(TFAP2B):c.853C>T (p.Arg285Ter)	TFAP2B (R285*)	Single nucleotide variant (nonsense)	not provided	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 1696223	NM_003221.4(TFAP2B):c.861G>C (p.Arg287Ser)	TFAP2B (R287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2988167	NM_003221.4(TFAP2B):c.864A>G (p.Leu288=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446085	NM_003221.4(TFAP2B):c.872T>C (p.Ile291Thr)	TFAP2B (I291T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8040	NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)	TFAP2B (R300C)	Single nucleotide variant (missense variant)	Char syndrome	GPathogenic
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 2993149	NM_003221.4(TFAP2B):c.918G>C (p.Thr306=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962521	NM_003221.4(TFAP2B):c.940+12G>A	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274986	NM_003221.4(TFAP2B):c.940+136T>G	TFAP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2225011	NM_003221.4(TFAP2B):c.969T>G (p.Phe323Leu)	TFAP2B (F323L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305755	NM_003221.4(TFAP2B):c.971G>C (p.Gly324Ala)	TFAP2B (G324A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906251	NM_003221.4(TFAP2B):c.976A>C (p.Ile326Leu)	TFAP2B (I326L)	Single nucleotide variant (missense variant)	not provided	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 2286613	NM_003221.4(TFAP2B):c.982G>C (p.Glu328Gln)	TFAP2B (E328Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1648705	NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser)	TFAP2B (A333S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724425	NM_003221.4(TFAP2B):c.1005C>T (p.Ala335=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 357281	NM_003221.4(TFAP2B):c.1006G>A (p.Val336Ile)	TFAP2B (V336I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3011004	NM_003221.4(TFAP2B):c.1027C>G (p.Gln343Glu)	TFAP2B (Q343E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905347	NM_003221.4(TFAP2B):c.1038C>A (p.Asp346Glu)	TFAP2B (D346E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575029	NM_003221.4(TFAP2B):c.1057C>G (p.Arg353Gly)	TFAP2B (R353G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798960	NM_003221.4(TFAP2B):c.1082+16T>C	TFAP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221895	NM_003221.4(TFAP2B):c.1083-308T>C	TFAP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 755778	NM_003221.4(TFAP2B):c.1104G>C (p.Thr368=)	TFAP2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1028094	NM_003221.4(TFAP2B):c.1105G>C (p.Asp369His)	TFAP2B (D369H)	Single nucleotide variant (missense variant)	Char syndrome	GUncertain significance

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