TBK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 1199157	NM_013254.4(TBK1):c.-31-103A>T	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875078	NM_013254.4(TBK1):c.2T>C (p.Met1Thr)	TBK1 (M1T)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2137385	NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)	TBK1 (Q2*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2880744	NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)	TBK1 (Q2R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 542557	NM_013254.4(TBK1):c.9C>T (p.Ser3=)	TBK1	Single nucleotide variant (synonymous variant)	TBK1-related disorder +2 more	GBenign
Select item 2627491	NM_013254.4(TBK1):c.14C>A (p.Ser5Tyr)	TBK1 (S5Y)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 475939	NM_013254.4(TBK1):c.40A>G (p.Ile14Val)	TBK1 (I14V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1442024	NM_013254.4(TBK1):c.41T>C (p.Ile14Thr)	TBK1 (I14T)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1418168	NM_013254.4(TBK1):c.51A>G (p.Gln17=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1439961	NM_013254.4(TBK1):c.64A>G (p.Asn22Asp)	TBK1 (N22D)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 475941	NM_013254.4(TBK1):c.66T>C (p.Asn22=)	TBK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3034103	NM_013254.4(TBK1):c.67G>A (p.Val23Ile)	TBK1 (V23I)	Single nucleotide variant (missense variant)	TBK1-related disorder	GUncertain significance
Select item 3068559	NM_013254.4(TBK1):c.68_70delinsCC (p.Val23fs)	TBK1 (V23fs)	Indel (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely pathogenic
Select item 1383659	NM_013254.4(TBK1):c.72dup (p.Arg25fs)	TBK1 (R25fs)	Duplication (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 3058425	NM_013254.4(TBK1):c.73C>T (p.Arg25Cys)	TBK1 (R25C)	Single nucleotide variant (missense variant)	TBK1-related disorder	GUncertain significance
Select item 2005223	NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)	TBK1 (R27G)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1469947	NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)	TBK1 (H28F)	Indel (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 807704	NM_013254.4(TBK1):c.86dup (p.Lys30fs)	TBK1 (K30fs)	Duplication (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 807705	NM_013254.4(TBK1):c.87G>A (p.Lys29=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 704660	NM_013254.4(TBK1):c.87+8C>T	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 1983262	NM_013254.4(TBK1):c.87+17C>T	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
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 2498563	NM_013254.4(TBK1):c.87+1831A>G	TBK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630427	NM_013254.4(TBK1):c.88-9T>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2725754	NM_013254.4(TBK1):c.88-4A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 1333966	NM_013254.4(TBK1):c.94G>A (p.Gly32Ser)	TBK1 (G32S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2919092	NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)	TBK1 (L34*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 706307	NM_013254.4(TBK1):c.108T>C (p.Ala36=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GBenign
Select item 2302506	NM_013254.4(TBK1):c.109A>T (p.Ile37Phe)	TBK1 (I37F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1500145	NM_013254.4(TBK1):c.110T>G (p.Ile37Ser)	TBK1 (I37S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1416866	NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)	TBK1 (N42S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2193351	NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)	TBK1 (I43R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 707118	NM_013254.4(TBK1):c.135C>T (p.Phe45=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 1394835	NM_013254.4(TBK1):c.142C>G (p.Pro48Ala)	TBK1 (P48A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1012825	NM_013254.4(TBK1):c.146T>G (p.Val49Gly)	TBK1 (V49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495316	NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)	TBK1 (D50A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2093648	NM_013254.4(TBK1):c.153T>C (p.Val51=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely 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 1360037	NM_013254.4(TBK1):c.172G>A (p.Val58Met)	TBK1 (V58M)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1619985	NM_013254.4(TBK1):c.175T>C (p.Leu59=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2972116	NM_013254.4(TBK1):c.198T>C (p.Asn66=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GLikely benign
Select item 1928717	NM_013254.4(TBK1):c.201T>C (p.Ile67=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GBenign/Likely benign
Select item 2118746	NM_013254.4(TBK1):c.204C>G (p.Val68=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2055622	NM_013254.4(TBK1):c.217A>G (p.Ile73Val)	TBK1 (I73V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GUncertain significance
Select item 1471951	NM_013254.4(TBK1):c.228+4A>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2855333	NM_013254.4(TBK1):c.228+19A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 1211749	NM_013254.4(TBK1):c.229-229G>A	TBK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157116	NM_013254.4(TBK1):c.229-14_229-13insC	TBK1	Insertion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 1981388	NM_013254.4(TBK1):c.229-5_229-4dup	TBK1	Duplication (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GBenign
Select item 403521	NM_013254.4(TBK1):c.229-4dup	TBK1	Duplication (intron variant)	not provided +3 more	GBenign
Select item 1657294	NM_013254.4(TBK1):c.229-9_229-8insG	TBK1	Insertion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 565435	NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)	TBK1 (T79del)	Microsatellite (inframe_deletion)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GConflicting classifications of pathogenicity
Select item 1981613	NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)	TBK1 (T77I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 727950	NM_013254.4(TBK1):c.231A>G (p.Thr77=)	TBK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3174802	NM_013254.4(TBK1):c.235A>G (p.Thr79Ala)	TBK1 (T79A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2820255	NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)	TBK1 (T79I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2724779	NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)	TBK1 (T79R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2178698	NM_013254.4(TBK1):c.253A>G (p.Ile85Val)	TBK1 (I85V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1921415	NM_013254.4(TBK1):c.270A>C (p.Pro90=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2096411	NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)	TBK1 (T96A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2007385	NM_013254.4(TBK1):c.289G>A (p.Val97Ile)	TBK1 (V97I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 634601	NM_013254.4(TBK1):c.290T>A (p.Val97Asp)	TBK1 (V97D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 8	GUncertain significance
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 2059613	NM_013254.4(TBK1):c.300_309del (p.Ser102fs)	TBK1 (S102fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 1511112	NM_013254.4(TBK1):c.301C>G (p.Pro101Ala)	TBK1 (P101A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2890879	NM_013254.4(TBK1):c.312C>T (p.Ala104=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 916301	NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys)	TBK1 (Y105C)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 763655	NM_013254.4(TBK1):c.330T>C (p.Ser110=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 1339689	NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)	TBK1 (R117*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic/Likely pathogenic
Select item 2197993	NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)	TBK1 (R117Q)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 1705557	NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)	TBK1 (D118N)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely pathogenic
Select item 2849247	NM_013254.4(TBK1):c.353A>T (p.Asp118Val)	TBK1 (D118V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2076132	NM_013254.4(TBK1):c.358+4T>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GLikely benign
Select item 475938	NM_013254.4(TBK1):c.358+9_358+12del	TBK1	Microsatellite (intron variant)	TBK1-related disorder +1 more	GLikely benign
Select item 1052740	NM_013254.4(TBK1):c.358+5G>A	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1335112	NM_013254.4(TBK1):c.358+7T>C	TBK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2037590	NM_013254.4(TBK1):c.358+13A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GBenign
Select item 3007649	NM_013254.4(TBK1):c.358+17A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
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 705384	NM_013254.4(TBK1):c.378A>G (p.Leu126=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 425011	NM_013254.4(TBK1):c.379C>T (p.Arg127Ter)	TBK1 (R127*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1421516	NM_013254.4(TBK1):c.380G>A (p.Arg127Gln)	TBK1 (R127Q)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 779795	NM_013254.4(TBK1):c.381A>C (p.Arg127=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2144951	NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)	TBK1 (N129Y)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
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 828157	NM_013254.4(TBK1):c.400C>T (p.Arg134Cys)	TBK1 (R134C)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	GUncertain significance
Select item 2735904	NM_013254.4(TBK1):c.401G>A (p.Arg134His)	TBK1 (R134H)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 1918072	NM_013254.4(TBK1):c.402T>C (p.Arg134=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2631790	NM_013254.4(TBK1):c.404A>G (p.Asp135Gly)	TBK1 (D135G)	Single nucleotide variant (missense variant)	TBK1-related disorder	GUncertain significance
Select item 580261	NM_013254.4(TBK1):c.421dup (p.Ile141fs)	TBK1 (I141fs)	Duplication (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2734582	NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)	TBK1 (I141T)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance

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