TAF15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1331195	NC_000017.11:g.35809264del	TAF15	Deletion	not provided	GBenign
Select item 3324208	NM_139215.3(TAF15):c.5C>T (p.Ser2Leu)	TAF15 (S2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1218302	NM_139215.3(TAF15):c.7+288G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282925	NM_139215.3(TAF15):c.8-260A>G	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190208	NM_139215.3(TAF15):c.8-202A>G	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187670	NM_139215.3(TAF15):c.8-17C>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259825	NM_139215.3(TAF15):c.48-210C>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343736	NM_139215.3(TAF15):c.59A>G (p.Tyr20Cys)	TAF15 (Y20C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253338	NM_139215.3(TAF15):c.122C>T (p.Thr41Met)	TAF15 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036893	NM_139215.3(TAF15):c.123G>A (p.Thr41=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 1698173	NM_139215.3(TAF15):c.143A>G (p.Gln48Arg)	TAF15 (Q48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681581	NM_139215.3(TAF15):c.154G>A (p.Gly52Ser)	TAF15 (G52S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1300617	NM_139215.3(TAF15):c.185-16C>T	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3046815	NM_139215.3(TAF15):c.205G>T (p.Gly69Cys)	TAF15 (G66C +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GLikely benign
Select item 1311632	NM_139215.3(TAF15):c.223C>G (p.Gln75Glu)	TAF15 (Q72E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577559	NM_139215.3(TAF15):c.227G>T (p.Ser76Ile)	TAF15 (S73I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481628	NM_139215.3(TAF15):c.248A>G (p.Tyr83Cys)	TAF15 (Y83C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358449	NM_139215.3(TAF15):c.269A>G (p.Gln90Arg)	TAF15 (Q87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265877	NM_139215.3(TAF15):c.290+105del	TAF15	Deletion (intron variant)	not provided	GBenign
Select item 1199978	NM_139215.3(TAF15):c.290+106A>T	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181146	NM_139215.3(TAF15):c.290+157G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183315	NM_139215.3(TAF15):c.291-278dup	TAF15	Duplication (intron variant)	not provided	GBenign
Select item 1216247	NM_139215.3(TAF15):c.291-278del	TAF15	Deletion (intron variant)	not provided	GLikely benign
Select item 1234576	NM_139215.3(TAF15):c.291-142A>G	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220985	NM_139215.3(TAF15):c.291-84G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3581859	NM_139215.3(TAF15):c.305C>T (p.Ala102Val)	TAF15 (A102V +1 more)	Single nucleotide variant (missense variant)	Extraskeletal myxoid chondrosarcoma	GUncertain significance
Select item 2307748	NM_139215.3(TAF15):c.314A>G (p.Tyr105Cys)	TAF15 (Y102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036243	NM_139215.3(TAF15):c.329A>G (p.Tyr110Cys)	TAF15 (Y107C +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 730618	NM_139215.3(TAF15):c.365A>G (p.Tyr122Cys)	TAF15 (Y119C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2522229	NM_139215.3(TAF15):c.389A>C (p.Asp130Ala)	TAF15 (D127A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173403	NM_139215.3(TAF15):c.416A>G (p.His139Arg)	TAF15 (H136R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1311551	NM_139215.3(TAF15):c.436C>A (p.Gln146Lys)	TAF15 (Q143K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312178	NM_139215.3(TAF15):c.446A>G (p.Tyr149Cys)	TAF15 (Y146C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3452554	NM_139215.3(TAF15):c.478A>C (p.Thr160Pro)	TAF15 (T160P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352680	NM_139215.3(TAF15):c.484+6A>G	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 1270329	NM_139215.3(TAF15):c.485-178G>C	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279134	NM_139215.3(TAF15):c.485-107G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731467	NM_139215.3(TAF15):c.485-4G>C	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2380686	NM_139215.3(TAF15):c.530A>G (p.Tyr177Cys)	TAF15 (Y174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476524	NM_139215.3(TAF15):c.598G>A (p.Gly200Arg)	TAF15 (G200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266660	NM_139215.3(TAF15):c.605+57dup	TAF15	Duplication (intron variant)	not provided	GBenign
Select item 1214851	NM_139215.3(TAF15):c.606-321_606-317del	TAF15	Deletion (intron variant)	not provided	GLikely benign
Select item 1181692	NM_139215.3(TAF15):c.606-147C>T	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271393	NM_139215.3(TAF15):c.641-289G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223792	NM_139215.3(TAF15):c.641-50T>C	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189405	NM_139215.3(TAF15):c.641-29T>C	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054340	NM_139215.3(TAF15):c.645C>G (p.His215Gln)	TAF15 (H212Q +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GLikely benign
Select item 1221174	NM_139215.3(TAF15):c.660C>T (p.Pro220=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3452548	NM_139215.3(TAF15):c.670G>T (p.Ala224Ser)	TAF15 (A221S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048182	NM_139215.3(TAF15):c.673+6G>C	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 1230421	NM_139215.3(TAF15):c.673+56dup	TAF15	Duplication (intron variant)	not provided	GBenign
Select item 1233077	NM_139215.3(TAF15):c.673+56del	TAF15	Deletion (intron variant)	not provided	GBenign
Select item 1212450	NM_139215.3(TAF15):c.673+257C>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211229	NM_139215.3(TAF15):c.674-294C>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724070	NM_139215.3(TAF15):c.726G>A (p.Gly242=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3173404	NM_139215.3(TAF15):c.782A>T (p.Lys261Met)	TAF15 (K258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1281253	NM_139215.3(TAF15):c.783+142G>C	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222086	NM_139215.3(TAF15):c.783+152T>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242916	NM_139215.3(TAF15):c.783+320G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790721	NM_139215.3(TAF15):c.876C>T (p.Asp292=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3032920	NM_139215.3(TAF15):c.913+10A>T	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 1194531	NM_139215.3(TAF15):c.913+37G>T	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222019	NM_139215.3(TAF15):c.913+48dup	TAF15	Duplication (intron variant)	not provided	GBenign
Select item 1221589	NM_139215.3(TAF15):c.914-216G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308875	NM_139215.3(TAF15):c.927T>A (p.His309Gln)	TAF15 (H306Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631956	NM_139215.3(TAF15):c.934A>G (p.Ile312Val)	TAF15 (I309V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3452553	NM_139215.3(TAF15):c.986G>C (p.Gly329Ala)	TAF15 (G329A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046835	NM_139215.3(TAF15):c.1006+3A>G	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 3351482	NM_139215.3(TAF15):c.1009C>T (p.Arg337Cys)	TAF15 (R334C +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 2309222	NM_139215.3(TAF15):c.1012G>A (p.Gly338Arg)	TAF15 (G335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452552	NM_139215.3(TAF15):c.1016G>T (p.Gly339Val)	TAF15 (G339V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265278	NM_139215.3(TAF15):c.1088+60A>G	TAF15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198120	NM_139215.3(TAF15):c.1089-25G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3351357	NM_139215.3(TAF15):c.1095C>T (p.Cys365=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 2519627	NM_139215.3(TAF15):c.1096G>A (p.Gly366Arg)	TAF15 (G363R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296552	NM_139215.3(TAF15):c.1138A>T (p.Asn380Tyr)	TAF15 (N377Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3393737	NM_139215.3(TAF15):c.1151C>G (p.Pro384Arg)	TAF15 (P381R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231980	NM_139215.3(TAF15):c.1163G>A (p.Arg388His)	TAF15 (R385H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1683939	NM_139215.3(TAF15):c.1172G>A (p.Gly391Glu)	TAF15 (G388E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216464	NM_139215.3(TAF15):c.1178-29G>A	TAF15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2629078	NM_139215.3(TAF15):c.1184G>A (p.Arg395Gln)	TAF15 (R392Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629197	NM_139215.3(TAF15):c.1222C>T (p.Arg408Cys)	TAF15 (R405C +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 3452549	NM_139215.3(TAF15):c.1246G>A (p.Gly416Ser)	TAF15 (G413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1215916	NM_139215.3(TAF15):c.1287_1370del (p.Ser432_Arg459del)	TAF15	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3351887	NM_139215.3(TAF15):c.1248C>T (p.Gly416=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 1306057	NM_139215.3(TAF15):c.1269_1295dup (p.Gly424_Ser432dup)	TAF15	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 756136	NM_139215.3(TAF15):c.1248C>A (p.Gly416=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040041	NM_139215.3(TAF15):c.1269_1295del (p.Gly424_Ser432del)	TAF15	Deletion	TAF15-related disorder	GLikely benign
Select item 3032147	NM_139215.3(TAF15):c.1278_1304del (p.Tyr427_Gly435del)	TAF15	Deletion	TAF15-related disorder	GLikely benign
Select item 1272689	NM_139215.3(TAF15):c.1287A>G (p.Gly429=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3324207	NM_139215.3(TAF15):c.1312A>G (p.Ser438Gly)	TAF15 (S438G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 758683	NM_139215.3(TAF15):c.1314C>T (p.Ser438=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3380481	NM_139215.3(TAF15):c.1315G>A (p.Gly439Arg)	TAF15 (G436R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305799	NM_139215.3(TAF15):c.1320_1346del (p.442SGGGYGGDR[1])	TAF15	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3380482	NM_139215.3(TAF15):c.1318G>A (p.Asp440Asn)	TAF15 (D437N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351257	NM_139215.3(TAF15):c.1320T>C (p.Asp440=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3045921	NM_139215.3(TAF15):c.1332_1358dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication	not provided	GUncertain significance
Select item 3045560	NM_139215.3(TAF15):c.1332_1358del (p.442SGGGYGGDR[1])	TAF15	Deletion	not provided	GUncertain significance
Select item 2334040	NM_139215.3(TAF15):c.1324A>T (p.Ser442Cys)	TAF15 (S439C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1806689	NM_139215.3(TAF15):c.1331G>A (p.Gly444Asp)	TAF15 (G441D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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