"TAF15-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 681581	NM_139215.3(TAF15):c.154G>A (p.Gly52Ser)	TAF15 (G52S)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 +1 more	GLikely benign
Select item 731467	NM_139215.3(TAF15):c.485-4G>C	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder +1 more	GBenign/Likely 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 +1 more	GBenign/Likely 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 724070	NM_139215.3(TAF15):c.726G>A (p.Gly242=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GBenign/Likely benign
Select item 3032920	NM_139215.3(TAF15):c.913+10A>T	TAF15	Single nucleotide variant (intron variant)	TAF15-related disorder	GLikely benign
Select item 2631956	NM_139215.3(TAF15):c.934A>G (p.Ile312Val)	TAF15 (I309V +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	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 1231980	NM_139215.3(TAF15):c.1163G>A (p.Arg388His)	TAF15 (R385H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2629078	NM_139215.3(TAF15):c.1184G>A (p.Arg395Gln)	TAF15 (R392Q +1 more)	Single nucleotide variant (missense variant)	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 1306057	NM_139215.3(TAF15):c.1269_1295dup (p.Gly424_Ser432dup)	TAF15	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3040041	NM_139215.3(TAF15):c.1269_1295del (p.Gly424_Ser432del)	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GLikely benign
Select item 3032147	NM_139215.3(TAF15):c.1278_1304del (p.Tyr427_Gly435del)	TAF15	Deletion (inframe 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 +1 more	GBenign
Select item 758683	NM_139215.3(TAF15):c.1314C>T (p.Ser438=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GLikely benign
Select item 3045921	NM_139215.3(TAF15):c.1332_1358dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication (inframe insertion)	TAF15-related disorder	GLikely benign
Select item 3045560	NM_139215.3(TAF15):c.1332_1358del (p.442SGGGYGGDR[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GLikely benign
Select item 1284017	NM_139215.3(TAF15):c.1332C>T (p.Gly444=)	TAF15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1194773	NM_139215.3(TAF15):c.1344_1370dup (p.442SGGGYGGDR[3])	TAF15	Duplication (inframe_insertion)	TAF15-related disorder +1 more	GLikely benign
Select item 3047913	NM_139215.3(TAF15):c.1344_1370del (p.442SGGGYGGDR[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GBenign
Select item 3053589	NM_139215.3(TAF15):c.1351_1377dup (p.Arg459_Gly460insSerGlyGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication (inframe insertion)	TAF15-related disorder	GLikely benign
Select item 1235282	NM_139215.3(TAF15):c.1344A>G (p.Gly448=)	TAF15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1241893	NM_139215.3(TAF15):c.1351_1377del (p.442SGGGYGGDR[1])	TAF15	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 786314	NM_139215.3(TAF15):c.1347C>T (p.Asp449=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GBenign/Likely benign
Select item 786315	NM_139215.3(TAF15):c.1359T>C (p.Gly453=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GBenign/Likely benign
Select item 1302887	NM_139215.3(TAF15):c.1380_1403del (p.454GYGGDRGG[3])	TAF15	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
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 3044606	NM_139215.3(TAF15):c.1371G>A (p.Gly457=)	TAF15	Single nucleotide variant (synonymous 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 1199112	NM_139215.3(TAF15):c.1392_1415dup (p.454GYGGDRGG[5])	TAF15	Duplication (inframe_insertion)	TAF15-related disorder +1 more	GLikely benign
Select item 789091	NM_139215.3(TAF15):c.1392_1415del (p.454_461GYGGDRGG[3])	TAF15	Deletion (inframe_deletion)	TAF15-related disorder +1 more	GBenign
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 3051662	NM_139215.3(TAF15):c.1384G>A (p.Gly462Ser)	TAF15 (G459S +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder	GLikely benign
Select item 2634576	NM_139215.3(TAF15):c.1407_1430del (p.454GYGGDRGG[3])	TAF15	Deletion (inframe_deletion)	TAF15-related disorder	GUncertain significance
Select item 750955	NM_139215.3(TAF15):c.1404A>C (p.Gly468=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GLikely benign
Select item 3049643	NM_139215.3(TAF15):c.1428_1472dup (p.Gly507_Tyr508insGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArgGlyGly)	TAF15	Duplication (inframe insertion)	TAF15-related disorder	GLikely benign
Select item 2647679	NM_139215.3(TAF15):c.1407C>T (p.Gly469=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GLikely benign
Select item 3054318	NM_139215.3(TAF15):c.1428_1472del (p.478GYGGDRGGYGGDRGG[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GLikely benign
Select item 717960	NM_139215.3(TAF15):c.1422_1445del (p.454_461GYGGDRGG[3])	TAF15	Deletion (inframe_deletion)	TAF15-related disorder +1 more	GBenign/Likely benign
Select item 1303193	NM_139215.3(TAF15):c.1418G>A (p.Gly473Glu)	TAF15 (G470E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3048059	NM_139215.3(TAF15):c.1446_1466del (p.479YGGDRGG[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GLikely benign
Select item 791200	NM_139215.3(TAF15):c.1446T>C (p.Asp482=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GBenign
Select item 2206901	NM_139215.3(TAF15):c.1448G>A (p.Arg483Gln)	TAF15 (R480Q +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder +1 more	GUncertain significance
Select item 1238181	NM_139215.3(TAF15):c.1524_1544dup (p.492GGYGGDR[6])	TAF15	Duplication (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 1198237	NM_139215.3(TAF15):c.1524_1544del (p.492GGYGGDR[4])	TAF15	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 3045054	NM_139215.3(TAF15):c.1542_1562dup (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArg)	TAF15	Duplication (inframe insertion)	TAF15-related disorder	GLikely benign
Select item 2629371	NM_139215.3(TAF15):c.1542TTATGGAGGAGATCGAGGAGG[3] (p.Arg526_Ser527insGlyGlyTyrGlyGlyAspArgGlyGlyTyrGlyGlyAspArg)	TAF15	Microsatellite (inframe_insertion)	TAF15-related disorder	GUncertain significance
Select item 1249602	NM_139215.3(TAF15):c.1524C>T (p.Tyr508=)	TAF15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1211733	NM_139215.3(TAF15):c.1542_1562del (p.492GGYGGDR[4])	TAF15	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
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 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 2355113	NM_139215.3(TAF15):c.1604G>A (p.Arg535His)	TAF15 (R535H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 720756	NM_139215.3(TAF15):c.1624G>A (p.Gly542Ser)	TAF15 (G542S +1 more)	Single nucleotide variant (missense variant)	TAF15-related disorder +1 more	GBenign
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 729819	NM_139215.3(TAF15):c.1665T>A (p.Gly555=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GLikely benign
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 737401	NM_139215.3(TAF15):c.1668C>T (p.Gly556=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GLikely benign
Select item 3031380	NM_139215.3(TAF15):c.1674_1697del (p.557GYGGDRGG[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GUncertain significance
Select item 3048383	NM_139215.3(TAF15):c.1692_1715del (p.557GYGGDRGG[1])	TAF15	Deletion (inframe deletion)	TAF15-related disorder	GLikely benign
Select item 786316	NM_139215.3(TAF15):c.1686A>C (p.Arg562=)	TAF15	Single nucleotide variant (synonymous variant)	TAF15-related disorder +1 more	GBenign/Likely benign

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Items: 67