ClinVar for Gene (Select 138474) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324236	NM_153809.2(TAF1L):c.3338A>G (p.Asp1113Gly)	TAF1L (D1113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324235	NM_153809.2(TAF1L):c.3725A>G (p.Glu1242Gly)	TAF1L (E1242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324234	NM_153809.2(TAF1L):c.4751G>A (p.Arg1584Gln)	TAF1L (R1584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324233	NM_153809.2(TAF1L):c.5191A>G (p.Lys1731Glu)	TAF1L (K1731E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324232	NM_153809.2(TAF1L):c.779G>A (p.Arg260His)	TAF1L (R260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324231	NM_153809.2(TAF1L):c.2669C>T (p.Pro890Leu)	TAF1L (P890L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324230	NM_153809.2(TAF1L):c.2960T>C (p.Ile987Thr)	TAF1L (I987T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324229	NM_153809.2(TAF1L):c.1501G>A (p.Asp501Asn)	TAF1L (D501N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324228	NM_153809.2(TAF1L):c.4294G>A (p.Val1432Ile)	TAF1L (V1432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324227	NM_153809.2(TAF1L):c.3488A>G (p.Asn1163Ser)	TAF1L (N1163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324226	NM_153809.2(TAF1L):c.5200C>G (p.Pro1734Ala)	TAF1L (P1734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324225	NM_153809.2(TAF1L):c.1012T>A (p.Ser338Thr)	TAF1L (S338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324224	NM_153809.2(TAF1L):c.1391T>C (p.Val464Ala)	TAF1L (V464A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3173482	NM_153809.2(TAF1L):c.826C>T (p.Arg276Trp)	TAF1L (R276W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173481	NM_153809.2(TAF1L):c.782T>C (p.Phe261Ser)	TAF1L (F261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173480	NM_153809.2(TAF1L):c.5337C>T (p.Asp1779=)	TAF1L	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3173479	NM_153809.2(TAF1L):c.5234C>G (p.Ala1745Gly)	TAF1L (A1745G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173478	NM_153809.2(TAF1L):c.5156A>T (p.Asp1719Val)	TAF1L (D1719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173477	NM_153809.2(TAF1L):c.4742A>G (p.Tyr1581Cys)	TAF1L (Y1581C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173476	NM_153809.2(TAF1L):c.467C>G (p.Pro156Arg)	TAF1L (P156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173475	NM_153809.2(TAF1L):c.459G>C (p.Lys153Asn)	TAF1L (K153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173474	NM_153809.2(TAF1L):c.4360C>T (p.Arg1454Cys)	TAF1L (R1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173473	NM_153809.2(TAF1L):c.4324C>T (p.Arg1442Trp)	TAF1L (R1442W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173472	NM_153809.2(TAF1L):c.4189C>T (p.Arg1397Cys)	TAF1L (R1397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173471	NM_153809.2(TAF1L):c.4124G>A (p.Arg1375Gln)	TAF1L (R1375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173470	NM_153809.2(TAF1L):c.40A>G (p.Thr14Ala)	TAF1L (T14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173469	NM_153809.2(TAF1L):c.3556A>G (p.Ile1186Val)	TAF1L (I1186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173468	NM_153809.2(TAF1L):c.3446G>A (p.Arg1149Gln)	TAF1L (R1149Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173467	NM_153809.2(TAF1L):c.3043C>G (p.Arg1015Gly)	TAF1L (R1015G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173465	NM_153809.2(TAF1L):c.2615A>G (p.Lys872Arg)	TAF1L (K872R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173463	NM_153809.2(TAF1L):c.2534G>A (p.Arg845Gln)	TAF1L (R845Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173462	NM_153809.2(TAF1L):c.2099C>T (p.Ala700Val)	TAF1L (A700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173461	NM_153809.2(TAF1L):c.1747C>G (p.Pro583Ala)	TAF1L (P583A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173460	NM_153809.2(TAF1L):c.1690A>G (p.Thr564Ala)	TAF1L (T564A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173459	NM_153809.2(TAF1L):c.1293T>G (p.Asp431Glu)	TAF1L (D431E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173458	NM_153809.2(TAF1L):c.1097G>A (p.Arg366Gln)	TAF1L (R366Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173457	NM_153809.2(TAF1L):c.1060A>C (p.Lys354Gln)	TAF1L (K354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659144	NM_153809.2(TAF1L):c.767G>C (p.Gly256Ala)	TAF1L (G256A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659143	NM_153809.2(TAF1L):c.2271A>G (p.Gln757=)	TAF1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659142	NM_153809.2(TAF1L):c.2718T>C (p.Ala906=)	TAF1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2622082	NM_153809.2(TAF1L):c.4679A>G (p.Tyr1560Cys)	TAF1L (Y1560C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610035	NM_153809.2(TAF1L):c.2789C>G (p.Pro930Arg)	TAF1L (P930R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603055	NM_153809.2(TAF1L):c.1352G>T (p.Ser451Ile)	TAF1L (S451I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594165	NM_153809.2(TAF1L):c.2315A>G (p.Tyr772Cys)	TAF1L (Y772C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537668	NM_153809.2(TAF1L):c.3663T>A (p.Asp1221Glu)	TAF1L (D1221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525753	NM_153809.2(TAF1L):c.4294G>T (p.Val1432Phe)	TAF1L (V1432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524150	NM_153809.2(TAF1L):c.4186C>T (p.Arg1396Cys)	TAF1L (R1396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523995	NM_153809.2(TAF1L):c.1361G>A (p.Gly454Asp)	TAF1L (G454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517409	NM_153809.2(TAF1L):c.3671T>C (p.Phe1224Ser)	TAF1L (F1224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517408	NM_153809.2(TAF1L):c.242C>T (p.Thr81Met)	TAF1L (T81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483699	NM_153809.2(TAF1L):c.68C>G (p.Ser23Trp)	TAF1L (S23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483402	NM_153809.2(TAF1L):c.3187A>G (p.Met1063Val)	TAF1L (M1063V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476302	NM_153809.2(TAF1L):c.3850G>A (p.Gly1284Arg)	TAF1L (G1284R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475738	NM_153809.2(TAF1L):c.1697T>A (p.Val566Asp)	TAF1L (V566D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474889	NM_153809.2(TAF1L):c.2683A>G (p.Ile895Val)	TAF1L (I895V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470593	NM_153809.2(TAF1L):c.1798C>T (p.Arg600Trp)	TAF1L (R600W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470523	NM_153809.2(TAF1L):c.1528A>G (p.Met510Val)	TAF1L (M510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465429	NM_153809.2(TAF1L):c.2518C>T (p.Arg840Trp)	TAF1L (R840W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459437	NM_153809.2(TAF1L):c.5455G>A (p.Glu1819Lys)	TAF1L (E1819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2410337	NM_153809.2(TAF1L):c.670G>A (p.Asp224Asn)	TAF1L (D224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409566	NM_153809.2(TAF1L):c.2626A>G (p.Met876Val)	TAF1L (M876V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392508	NM_153809.2(TAF1L):c.3202C>T (p.Arg1068Cys)	TAF1L (R1068C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383849	NM_153809.2(TAF1L):c.2508G>T (p.Lys836Asn)	TAF1L (K836N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377942	NM_153809.2(TAF1L):c.3650G>A (p.Arg1217Gln)	TAF1L (R1217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377121	NM_153809.2(TAF1L):c.1984A>G (p.Ile662Val)	TAF1L (I662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373730	NM_153809.2(TAF1L):c.5168A>T (p.Tyr1723Phe)	TAF1L (Y1723F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370681	NM_153809.2(TAF1L):c.2974A>G (p.Thr992Ala)	TAF1L (T992A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370620	NM_153809.2(TAF1L):c.992C>T (p.Thr331Met)	TAF1L (T331M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365500	NM_153809.2(TAF1L):c.3643C>T (p.Arg1215Cys)	TAF1L (R1215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364606	NM_153809.2(TAF1L):c.15C>G (p.Cys5Trp)	TAF1L (C5W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364446	NM_153809.2(TAF1L):c.3146G>A (p.Arg1049His)	TAF1L (R1049H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364205	NM_153809.2(TAF1L):c.2870T>C (p.Phe957Ser)	TAF1L (F957S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362349	NM_153809.2(TAF1L):c.5229T>G (p.Asp1743Glu)	TAF1L (D1743E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352497	NM_153809.2(TAF1L):c.4771G>A (p.Val1591Ile)	TAF1L (V1591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351423	NM_153809.2(TAF1L):c.5109G>C (p.Gln1703His)	TAF1L (Q1703H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350788	NM_153809.2(TAF1L):c.2383T>A (p.Leu795Ile)	TAF1L (L795I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346346	NM_153809.2(TAF1L):c.5030C>T (p.Thr1677Met)	TAF1L (T1677M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346345	NM_153809.2(TAF1L):c.1811G>A (p.Gly604Glu)	TAF1L (G604E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339445	NM_153809.2(TAF1L):c.4001T>C (p.Leu1334Pro)	TAF1L (L1334P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339069	NM_153809.2(TAF1L):c.793T>G (p.Phe265Val)	TAF1L (F265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335569	NM_153809.2(TAF1L):c.4621G>A (p.Val1541Ile)	TAF1L (V1541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328388	NM_153809.2(TAF1L):c.3644G>T (p.Arg1215Leu)	TAF1L (R1215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326350	NM_153809.2(TAF1L):c.4088A>G (p.Lys1363Arg)	TAF1L (K1363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325888	NM_153809.2(TAF1L):c.4852A>G (p.Ile1618Val)	TAF1L (I1618V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325260	NM_153809.2(TAF1L):c.983A>T (p.Asp328Val)	TAF1L (D328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324699	NM_153809.2(TAF1L):c.3455T>C (p.Leu1152Pro)	TAF1L (L1152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314245	NM_153809.2(TAF1L):c.2372A>G (p.Tyr791Cys)	TAF1L (Y791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312107	NM_153809.2(TAF1L):c.1385G>A (p.Arg462Lys)	TAF1L (R462K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309946	NM_153809.2(TAF1L):c.4546C>G (p.Pro1516Ala)	TAF1L (P1516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309579	NM_153809.2(TAF1L):c.2012A>G (p.Gln671Arg)	TAF1L (Q671R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306945	NM_153809.2(TAF1L):c.2638T>C (p.Trp880Arg)	TAF1L (W880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301213	NM_153809.2(TAF1L):c.4730C>G (p.Ser1577Cys)	TAF1L (S1577C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295790	NM_153809.2(TAF1L):c.2521C>T (p.Pro841Ser)	TAF1L (P841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289558	NM_153809.2(TAF1L):c.2538G>A (p.Met846Ile)	TAF1L (M846I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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