ClinVar for Gene (Select 8148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3452555	NM_139215.3(TAF15):c.1616G>T (p.Ser539Ile)	TAF15 (S536I +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 3452550	NM_139215.3(TAF15):c.1363T>A (p.Tyr455Asn)	TAF15 (Y452N +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 3452547	NM_139215.3(TAF15):c.1731G>T (p.Met577Ile)	TAF15 (M577I +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 3388269	NM_139215.3(TAF15):c.1563C>T (p.Gly521=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3388149	NM_139215.3(TAF15):c.1545T>C (p.Tyr515=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3370524	NM_139215.3(TAF15):c.1651G>A (p.Gly551Arg)	TAF15 (G548R +1 more)	Single nucleotide variant (missense variant)	not provided	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 3356832	NM_139215.3(TAF15):c.1428A>T (p.Gly476=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3356759	NM_139215.3(TAF15):c.1431T>G (p.Gly477=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3356722	NM_139215.3(TAF15):c.1457A>G (p.Tyr486Cys)	TAF15 (Y483C +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 3355804	NM_139215.3(TAF15):c.1473T>A (p.Gly491=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3354598	NM_139215.3(TAF15):c.1368_1415del (p.454GYGGDRGG[2])	TAF15	Deletion (inframe_deletion)	TAF15-related disorder	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 3352319	NM_139215.3(TAF15):c.1380_1403dup (p.Gly485_Tyr486insGlyTyrGlyGlyAspArgGlyGly)	TAF15	Duplication (inframe_insertion)	TAF15-related disorder	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 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 3351357	NM_139215.3(TAF15):c.1095C>T (p.Cys365=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
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 3350971	NM_139215.3(TAF15):c.1739G>A (p.Arg580Lys)	TAF15 (R577K +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 3350928	NM_139215.3(TAF15):c.1357G>A (p.Gly453Ser)	TAF15 (G450S +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
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 3341525	NM_139215.3(TAF15):c.1467C>T (p.Asp489=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340792	NM_139215.3(TAF15):c.1338_1341delinsCAGC (p.Gly447Ser)	TAF15 (G444S +1 more)	Indel (missense variant)	not provided	GUncertain significance
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 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 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 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 3059779	NM_139215.3(TAF15):c.1368T>A (p.Gly456=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	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 3054318	NM_139215.3(TAF15):c.1428_1472del (p.478GYGGDRGGYGGDRGG[1])	TAF15	Deletion	not provided	GUncertain significance
Select item 3053589	NM_139215.3(TAF15):c.1351_1377dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication	TAF15-related disorder	GLikely benign
Select item 3051662	NM_139215.3(TAF15):c.1384G>A (p.Gly462Ser)	TAF15 (G459S +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 3050891	NM_139215.3(TAF15):c.1383C>T (p.Gly461=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3049643	NM_139215.3(TAF15):c.1428_1472dup (p.Gly507_Tyr508insGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArgGlyGly)	TAF15	Duplication	TAF15-related disorder	GLikely benign
Select item 3048383	NM_139215.3(TAF15):c.1692_1715del (p.557GYGGDRGG[1])	TAF15	Deletion	TAF15-related disorder	GLikely benign
Select item 3048182	NM_139215.3(TAF15):c.673+6G>C	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 3048059	NM_139215.3(TAF15):c.1446_1466del (p.479YGGDRGG[1])	TAF15	Deletion	TAF15-related disorder	GLikely benign
Select item 3047913	NM_139215.3(TAF15):c.1344_1370del (p.442SGGGYGGDR[1])	TAF15	Deletion	TAF15-related disorder	GBenign
Select item 3046835	NM_139215.3(TAF15):c.1006+3A>G	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	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 3046086	NM_139215.3(TAF15):c.1380C>A (p.Gly460=)	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 3045054	NM_139215.3(TAF15):c.1542_1562dup (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication (inframe insertion)	TAF15-related disorder	GLikely benign
Select item 3044606	NM_139215.3(TAF15):c.1371G>A (p.Gly457=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder	GLikely benign
Select item 3040041	NM_139215.3(TAF15):c.1269_1295del (p.Gly424_Ser432del)	TAF15	Deletion	TAF15-related disorder	GLikely benign
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 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 3032920	NM_139215.3(TAF15):c.913+10A>T	TAF15	Single nucleotide variant (intron variant)	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 3031380	NM_139215.3(TAF15):c.1674_1697del (p.557GYGGDRGG[1])	TAF15	Deletion	TAF15-related disorder	GUncertain significance
Select item 2647679	NM_139215.3(TAF15):c.1407C>T (p.Gly469=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647678	NM_139215.3(TAF15):c.1399A>C (p.Arg467=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647677	NM_139215.3(TAF15):c.1395G>A (p.Gly465=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647676	NM_139215.3(TAF15):c.1392T>A (p.Gly464=)	TAF15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636015	NM_139215.3(TAF15):c.1588G>A (p.Gly530Ser)	TAF15 (G527S +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 2635993	NM_139215.3(TAF15):c.1605_1685del (p.Ser539_Gly565del)	TAF15	Deletion (inframe_deletion)	TAF15-related disorder +1 more	GUncertain significance
Select item 2635990	NM_139215.3(TAF15):c.1535G>A (p.Arg512Gln)	TAF15 (R509Q +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 2635776	NM_139215.3(TAF15):c.1634G>A (p.Arg545Gln)	TAF15 (R542Q +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 2634576	NM_139215.3(TAF15):c.1407_1430del (p.454GYGGDRGG[3])	TAF15	Deletion (inframe_deletion)	TAF15-related disorder	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 2631034	NM_139215.3(TAF15):c.1667G>A (p.Gly556Asp)	TAF15 (G553D +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GUncertain significance
Select item 2629371	NM_139215.3(TAF15):c.1542TTATGGAGGAGATCGAGGAGG[3] (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArg)	TAF15	Microsatellite (inframe_insertion)	TAF15-related disorder	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 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 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 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
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 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 2494898	NM_139215.3(TAF15):c.1564T>C (p.Tyr522His)	TAF15 (Y522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492622	NM_139215.3(TAF15):c.1412A>G (p.Tyr471Cys)	TAF15 (Y471C +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 2476038	NM_139215.3(TAF15):c.1666G>A (p.Gly556Ser)	TAF15 (G556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469394	NM_139215.3(TAF15):c.1447C>G (p.Arg483Gly)	TAF15 (R480G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400442	NM_139215.3(TAF15):c.1583G>A (p.Arg528Gln)	TAF15 (R525Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2355113	NM_139215.3(TAF15):c.1604G>A (p.Arg535His)	TAF15 (R535H +1 more)	Single nucleotide variant (missense variant)	not specified	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 2333203	NM_139215.3(TAF15):c.1766A>G (p.Asn589Ser)	TAF15 (N586S +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 2253338	NM_139215.3(TAF15):c.122C>T (p.Thr41Met)	TAF15 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237924	NM_139215.3(TAF15):c.1603C>G (p.Arg535Gly)	TAF15 (R532G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218151	NM_139215.3(TAF15):c.1424G>A (p.Arg475Gln)	TAF15 (R472Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206901	NM_139215.3(TAF15):c.1448G>A (p.Arg483Gln)	TAF15 (R480Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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
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 1683939	NM_139215.3(TAF15):c.1172G>A (p.Gly391Glu)	TAF15 (G388E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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