"GeneDx"[submitter] AND "TBK1"[gene] - ClinVar

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Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199157	NM_013254.4(TBK1):c.-31-103A>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 542557	NM_013254.4(TBK1):c.9C>T (p.Ser3=)	TBK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 475941	NM_013254.4(TBK1):c.66T>C (p.Asn22=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign
Select item 1217885	NM_013254.4(TBK1):c.87+49G>C	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226811	NM_013254.4(TBK1):c.87+131C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315825	NM_013254.4(TBK1):c.109A>G (p.Ile37Val)	TBK1 (I37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193351	NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)	TBK1 (I43R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 707118	NM_013254.4(TBK1):c.135C>T (p.Phe45=)	TBK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318921	NM_013254.4(TBK1):c.163G>A (p.Glu55Lys)	TBK1 (E55K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211749	NM_013254.4(TBK1):c.229-229G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403521	NM_013254.4(TBK1):c.229-4dup	TBK1	Duplication (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +3 more	GBenign
Select item 1318768	NM_013254.4(TBK1):c.292T>A (p.Leu98Ile)	TBK1 (L98I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1194613	NM_013254.4(TBK1):c.358+73A>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196487	NM_013254.4(TBK1):c.359-244C>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214417	NM_013254.4(TBK1):c.359-234A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258002	NM_013254.4(TBK1):c.359-162TA[7]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1181878	NM_013254.4(TBK1):c.359-44G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317880	NM_013254.4(TBK1):c.385A>G (p.Asn129Asp)	TBK1 (N129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475940	NM_013254.4(TBK1):c.519G>A (p.Leu173=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 1320434	NM_013254.4(TBK1):c.565G>A (p.Val189Met)	TBK1 (V189M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318547	NM_013254.4(TBK1):c.574A>G (p.Lys192Glu)	TBK1 (K192E)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 1193223	NM_013254.4(TBK1):c.701+211A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223724	NM_013254.4(TBK1):c.702-86C>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193643	NM_013254.4(TBK1):c.812+156G>C	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285973	NM_013254.4(TBK1):c.812+200A>C	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202726	NM_013254.4(TBK1):c.812+270T>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289907	NM_013254.4(TBK1):c.813-241G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220134	NM_013254.4(TBK1):c.813-222A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188665	NM_013254.4(TBK1):c.813-201A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247139	NM_013254.4(TBK1):c.813-73A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489075	NM_013254.4(TBK1):c.813-12A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 266069	NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	TBK1 (L277V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 1317044	NM_013254.4(TBK1):c.851T>A (p.Ile284Asn)	TBK1 (I284N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 706316	NM_013254.4(TBK1):c.916C>A (p.Leu306Ile)	TBK1 (L306I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 403522	NM_013254.4(TBK1):c.978T>A (p.Ile326=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GBenign
Select item 475942	NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)	TBK1 (T331I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 1230579	NM_013254.4(TBK1):c.992+98A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259905	NM_013254.4(TBK1):c.992+217T>C	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296721	NM_013254.4(TBK1):c.993-292AC[22]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1222695	NM_013254.4(TBK1):c.993-292AC[21]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1260369	NM_013254.4(TBK1):c.993-292AC[17]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1256991	NM_013254.4(TBK1):c.993-292AC[18]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1238794	NM_013254.4(TBK1):c.993-292AC[12]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1177855	NM_013254.4(TBK1):c.993-292AC[13]	TBK1	Microsatellite (intron variant)	not provided	GBenign
Select item 1189613	NM_013254.4(TBK1):c.993-140C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1077560	NM_013254.4(TBK1):c.996T>A (p.Ala332=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GLikely benign
Select item 620149	NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)	TBK1 (R357*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 475932	NM_013254.4(TBK1):c.1110C>T (p.Phe370=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 1211511	NM_013254.4(TBK1):c.1189+150G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277328	NM_013254.4(TBK1):c.1190-70T>C	TBK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1318751	NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr)	TBK1 (I397T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2578142	NM_013254.4(TBK1):c.1193C>T (p.Ser398Phe)	TBK1 (S398F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315664	NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)	TBK1 (H403Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506838	NM_013254.4(TBK1):c.1217A>G (p.Tyr406Cys)	TBK1 (Y406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253382	NM_013254.4(TBK1):c.1248+143G>T	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 266072	NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	TBK1 (R444*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic; other
Select item 1251130	NM_013254.4(TBK1):c.1340+106A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277624	NM_013254.4(TBK1):c.1341-300G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196248	NM_013254.4(TBK1):c.1341-54G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475934	NM_013254.4(TBK1):c.1341-3del	TBK1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 475935	NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)	TBK1 (V464A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GBenign/Likely benign
Select item 1211407	NM_013254.4(TBK1):c.1442+220A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245610	NM_013254.4(TBK1):c.1442+272C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218959	NM_013254.4(TBK1):c.1442+273G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188693	NM_013254.4(TBK1):c.1443-216C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241530	NM_013254.4(TBK1):c.1443-60C>A	TBK1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1232464	NM_013254.4(TBK1):c.1521+265G>C	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208442	NM_013254.4(TBK1):c.1522-166A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213558	NM_013254.4(TBK1):c.1522-110A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282891	NM_013254.4(TBK1):c.1720+168del	TBK1	Deletion (intron variant)	not provided	GBenign
Select item 1219731	NM_013254.4(TBK1):c.1721-232A>C	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206865	NM_013254.4(TBK1):c.1760+134C>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193145	NM_013254.4(TBK1):c.1760+205G>C	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203750	NM_013254.4(TBK1):c.1760+261C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285679	NM_013254.4(TBK1):c.1761-253A>C	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225034	NM_013254.4(TBK1):c.1761-220C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193435	NM_013254.4(TBK1):c.1761-11C>T	TBK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 516884	NM_013254.4(TBK1):c.1792A>G (p.Met598Val)	TBK1 (M598V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 702184	NM_013254.4(TBK1):c.1954_1956del (p.Asn652del)	TBK1 (N652del)	Deletion (inframe_deletion)	not provided +1 more	GBenign
Select item 1216589	NM_013254.4(TBK1):c.1960-170_1960-169del	TBK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1274985	NM_013254.4(TBK1):c.1960-157A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240627	NM_013254.4(TBK1):c.1960-150G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263026	NM_013254.4(TBK1):c.1960-35_1960-33dup	TBK1	Duplication (intron variant)	not provided	GBenign
Select item 1234607	NM_013254.4(TBK1):c.1960-11dup	TBK1	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1224609	NM_013254.4(TBK1):c.1960-27C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204209	NM_013254.4(TBK1):c.1960-12_1960-11dup	TBK1	Duplication (intron variant)	not provided	GLikely benign
Select item 1282064	NM_013254.4(TBK1):c.1960-11del	TBK1	Deletion (intron variant)	not provided	GBenign
Select item 542556	NM_013254.4(TBK1):c.1960-7G>T	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GLikely benign
Select item 677286	NM_013254.4(TBK1):c.1960-3C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1345129	NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)	TBK1 (L683S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 1196598	NM_013254.4(TBK1):c.2138+276C>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221087	NM_013254.4(TBK1):c.2139-313C>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204684	NM_013254.4(TBK1):c.2139-279G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403523	NM_013254.4(TBK1):c.2139-11G>A	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GBenign/Likely benign
Select item 1318847	NM_013254.4(TBK1):c.2150_2153delinsGGA (p.Leu717fs)	TBK1 (L717fs)	Indel (frameshift variant)	not provided	GUncertain significance

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Items: 95