TAF1L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	DMRT2, DMRT3 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC129929032, LOC130001435 +538 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001651, LOC130001652 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001669, LOC130001670 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC130001706, LOC130001707 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +503 more	Copy number gain	See cases	GPathogenic
Select item 2459437	NM_153809.2(TAF1L):c.5455G>A (p.Glu1819Lys)	TAF1L (E1819K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362349	NM_153809.2(TAF1L):c.5229T>G (p.Asp1743Glu)	TAF1L (D1743E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373730	NM_153809.2(TAF1L):c.5168A>T (p.Tyr1723Phe)	TAF1L (Y1723F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351423	NM_153809.2(TAF1L):c.5109G>C (p.Gln1703His)	TAF1L (Q1703H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346346	NM_153809.2(TAF1L):c.5030C>T (p.Thr1677Met)	TAF1L (T1677M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233882	NM_153809.2(TAF1L):c.5016C>G (p.Asn1672Lys)	TAF1L (N1672K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217841	NM_153809.2(TAF1L):c.4975G>C (p.Gly1659Arg)	TAF1L (G1659R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259775	NM_153809.2(TAF1L):c.4907A>T (p.Asp1636Val)	TAF1L (D1636V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325888	NM_153809.2(TAF1L):c.4852A>G (p.Ile1618Val)	TAF1L (I1618V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352497	NM_153809.2(TAF1L):c.4771G>A (p.Val1591Ile)	TAF1L (V1591I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301213	NM_153809.2(TAF1L):c.4730C>G (p.Ser1577Cys)	TAF1L (S1577C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622082	NM_153809.2(TAF1L):c.4679A>G (p.Tyr1560Cys)	TAF1L (Y1560C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335569	NM_153809.2(TAF1L):c.4621G>A (p.Val1541Ile)	TAF1L (V1541I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260263	NM_153809.2(TAF1L):c.4585A>C (p.Ile1529Leu)	TAF1L (I1529L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309946	NM_153809.2(TAF1L):c.4546C>G (p.Pro1516Ala)	TAF1L (P1516A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525753	NM_153809.2(TAF1L):c.4294G>T (p.Val1432Phe)	TAF1L (V1432F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524150	NM_153809.2(TAF1L):c.4186C>T (p.Arg1396Cys)	TAF1L (R1396C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326350	NM_153809.2(TAF1L):c.4088A>G (p.Lys1363Arg)	TAF1L (K1363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265002	NM_153809.2(TAF1L):c.4019C>T (p.Thr1340Ile)	TAF1L (T1340I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339445	NM_153809.2(TAF1L):c.4001T>C (p.Leu1334Pro)	TAF1L (L1334P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476302	NM_153809.2(TAF1L):c.3850G>A (p.Gly1284Arg)	TAF1L (G1284R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659141	NM_153809.2(TAF1L):c.3797C>G (p.Pro1266Arg)	TAF1L (P1266R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2260162	NM_153809.2(TAF1L):c.3673A>T (p.Ile1225Phe)	TAF1L (I1225F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517409	NM_153809.2(TAF1L):c.3671T>C (p.Phe1224Ser)	TAF1L (F1224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537668	NM_153809.2(TAF1L):c.3663T>A (p.Asp1221Glu)	TAF1L (D1221E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377942	NM_153809.2(TAF1L):c.3650G>A (p.Arg1217Gln)	TAF1L (R1217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328388	NM_153809.2(TAF1L):c.3644G>T (p.Arg1215Leu)	TAF1L (R1215L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365500	NM_153809.2(TAF1L):c.3643C>T (p.Arg1215Cys)	TAF1L (R1215C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225105	NM_153809.2(TAF1L):c.3634G>A (p.Ala1212Thr)	TAF1L (A1212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324699	NM_153809.2(TAF1L):c.3455T>C (p.Leu1152Pro)	TAF1L (L1152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208235	NM_153809.2(TAF1L):c.3449G>A (p.Arg1150Gln)	TAF1L (R1150Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392508	NM_153809.2(TAF1L):c.3202C>T (p.Arg1068Cys)	TAF1L (R1068C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483402	NM_153809.2(TAF1L):c.3187A>G (p.Met1063Val)	TAF1L (M1063V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364446	NM_153809.2(TAF1L):c.3146G>A (p.Arg1049His)	TAF1L (R1049H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221063	NM_153809.2(TAF1L):c.3062A>G (p.Asn1021Ser)	TAF1L (N1021S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370681	NM_153809.2(TAF1L):c.2974A>G (p.Thr992Ala)	TAF1L (T992A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364205	NM_153809.2(TAF1L):c.2870T>C (p.Phe957Ser)	TAF1L (F957S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610035	NM_153809.2(TAF1L):c.2789C>G (p.Pro930Arg)	TAF1L (P930R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659142	NM_153809.2(TAF1L):c.2718T>C (p.Ala906=)	TAF1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474889	NM_153809.2(TAF1L):c.2683A>G (p.Ile895Val)	TAF1L (I895V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218575	NM_153809.2(TAF1L):c.2663G>A (p.Arg888His)	TAF1L (R888H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306945	NM_153809.2(TAF1L):c.2638T>C (p.Trp880Arg)	TAF1L (W880R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409566	NM_153809.2(TAF1L):c.2626A>G (p.Met876Val)	TAF1L (M876V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281351	NM_153809.2(TAF1L):c.2626A>T (p.Met876Leu)	TAF1L (M876L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289558	NM_153809.2(TAF1L):c.2538G>A (p.Met846Ile)	TAF1L (M846I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295790	NM_153809.2(TAF1L):c.2521C>T (p.Pro841Ser)	TAF1L (P841S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465429	NM_153809.2(TAF1L):c.2518C>T (p.Arg840Trp)	TAF1L (R840W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383849	NM_153809.2(TAF1L):c.2508G>T (p.Lys836Asn)	TAF1L (K836N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350788	NM_153809.2(TAF1L):c.2383T>A (p.Leu795Ile)	TAF1L (L795I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314245	NM_153809.2(TAF1L):c.2372A>G (p.Tyr791Cys)	TAF1L (Y791C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594165	NM_153809.2(TAF1L):c.2315A>G (p.Tyr772Cys)	TAF1L (Y772C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228881	NM_153809.2(TAF1L):c.2296C>A (p.Leu766Ile)	TAF1L (L766I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659143	NM_153809.2(TAF1L):c.2271A>G (p.Gln757=)	TAF1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274706	NM_153809.2(TAF1L):c.2164T>C (p.Tyr722His)	TAF1L (Y722H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309579	NM_153809.2(TAF1L):c.2012A>G (p.Gln671Arg)	TAF1L (Q671R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377121	NM_153809.2(TAF1L):c.1984A>G (p.Ile662Val)	TAF1L (I662V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206624	NM_153809.2(TAF1L):c.1895G>A (p.Arg632Gln)	TAF1L (R632Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346345	NM_153809.2(TAF1L):c.1811G>A (p.Gly604Glu)	TAF1L (G604E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278542	NM_153809.2(TAF1L):c.1808T>A (p.Phe603Tyr)	TAF1L (F603Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470593	NM_153809.2(TAF1L):c.1798C>T (p.Arg600Trp)	TAF1L (R600W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475738	NM_153809.2(TAF1L):c.1697T>A (p.Val566Asp)	TAF1L (V566D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470523	NM_153809.2(TAF1L):c.1528A>G (p.Met510Val)	TAF1L (M510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210724	NM_153809.2(TAF1L):c.1465A>C (p.Ile489Leu)	TAF1L (I489L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312107	NM_153809.2(TAF1L):c.1385G>A (p.Arg462Lys)	TAF1L (R462K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523995	NM_153809.2(TAF1L):c.1361G>A (p.Gly454Asp)	TAF1L (G454D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603055	NM_153809.2(TAF1L):c.1352G>T (p.Ser451Ile)	TAF1L (S451I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250848	NM_153809.2(TAF1L):c.1334C>A (p.Thr445Lys)	TAF1L (T445K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370620	NM_153809.2(TAF1L):c.992C>T (p.Thr331Met)	TAF1L (T331M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325260	NM_153809.2(TAF1L):c.983A>T (p.Asp328Val)	TAF1L (D328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339069	NM_153809.2(TAF1L):c.793T>G (p.Phe265Val)	TAF1L (F265V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659144	NM_153809.2(TAF1L):c.767G>C (p.Gly256Ala)	TAF1L (G256A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410337	NM_153809.2(TAF1L):c.670G>A (p.Asp224Asn)	TAF1L (D224N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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