ClinVar for MedGen (Select 902979) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068737	NM_013254.4(TBK1):c.456_457del (p.Tyr153fs)	TBK1 (Y153fs)	Microsatellite (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
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 3064504	NM_013254.4(TBK1):c.1852G>A (p.Glu618Lys)	TBK1 (E618K)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 3018107	NM_013254.4(TBK1):c.1959+13G>A	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
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 3005178	NM_013254.4(TBK1):c.1917T>C (p.Asp639=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 3000753	NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)	TBK1 (G699R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2998982	NM_013254.4(TBK1):c.563C>T (p.Ala188Val)	TBK1 (A188V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2979274	NM_013254.4(TBK1):c.1443-15T>C	TBK1	Single nucleotide variant (intron 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 2956885	NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)	TBK1 (E147G)	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 2912741	NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)	TBK1 (N455S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2910892	NM_013254.4(TBK1):c.794T>C (p.Val265Ala)	TBK1 (V265A)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2910318	NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)	TBK1 (V726I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2910316	NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)	TBK1 (G217R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2908498	NM_013254.4(TBK1):c.1260G>C (p.Gly420=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2908308	NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)	TBK1 (R384Q)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2901231	NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)	TBK1 (G722D)	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 2890780	NM_013254.4(TBK1):c.1959+17A>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2881915	NM_013254.4(TBK1):c.812+18A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GBenign
Select item 2881685	NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)	TBK1 (P544L)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
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 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 2872281	NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)	TBK1 (D546fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2869114	NM_013254.4(TBK1):c.1675A>G (p.Met559Val)	TBK1 (M559V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2864297	NM_013254.4(TBK1):c.722del (p.Lys241fs)	TBK1 (K241fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
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 2852005	NM_013254.4(TBK1):c.780T>C (p.Ser260=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2849736	NM_013254.4(TBK1):c.1956del (p.Asn652fs)	TBK1 (N652fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2849519	NM_013254.4(TBK1):c.1863-1G>A	TBK1	Single nucleotide variant (splice acceptor 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 2848823	NM_013254.4(TBK1):c.1960-2A>T	TBK1	Single nucleotide variant (splice acceptor variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely pathogenic
Select item 2845115	NM_013254.4(TBK1):c.1442+18T>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2842528	NM_013254.4(TBK1):c.1442+17C>T	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2839318	NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)	TBK1 (R573S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2822117	NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)	TBK1 (E178G)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	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 2819566	NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)	TBK1 (S511F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2805075	NM_013254.4(TBK1):c.805C>G (p.Leu269Val)	TBK1 (L269V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2799494	NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)	TBK1 (A429G)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2778183	NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)	TBK1 (Q436R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2772456	NM_013254.4(TBK1):c.816T>G (p.Gly272=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2769688	NM_013254.4(TBK1):c.2139-5_2139-3dup	TBK1	Duplication (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2765502	NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)	TBK1 (Q250*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2764763	NM_013254.4(TBK1):c.1249-5A>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2760716	NM_013254.4(TBK1):c.935A>G (p.His312Arg)	TBK1 (H312R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2760183	NM_013254.4(TBK1):c.519del (p.Tyr174fs)	TBK1 (Y174fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2752051	NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)	TBK1 (T462fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2750594	NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)	TBK1 (L399F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2746045	NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)	TBK1 (R440Q)	Single nucleotide variant (missense variant)	TBK1-related disorder +1 more	GUncertain significance
Select item 2743734	NM_013254.4(TBK1):c.1323G>A (p.Lys441=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2735907	NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)	TBK1 (I710N)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2735905	NM_013254.4(TBK1):c.731G>T (p.Gly244Val)	TBK1 (G244V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	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 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
Select item 2729485	NM_013254.4(TBK1):c.430G>A (p.Val144Ile)	TBK1 (V144I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
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 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 2720577	NM_013254.4(TBK1):c.1338G>T (p.Leu446=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2719690	NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)	TBK1 (N455I)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2718607	NM_013254.4(TBK1):c.639T>C (p.His213=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2707383	NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)	TBK1 (R627G)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2705439	NM_013254.4(TBK1):c.1761-3C>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2703300	NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)	TBK1 (G294S)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2700582	NM_013254.4(TBK1):c.744A>C (p.Gly248=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2696430	NM_013254.4(TBK1):c.2138+12A>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2693803	NM_013254.4(TBK1):c.2171G>A (p.Arg724His)	TBK1 (R724H)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2693106	NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)	TBK1 (A214E)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2690222	NM_013254.4(TBK1):c.1895C>T (p.Ser632Leu)	TBK1 (S632L)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2628090	NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)	TBK1 (V458fs)	Deletion (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
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 2584886	NM_013254.4(TBK1):c.1051G>A (p.Glu351Lys)	TBK1 (E351K)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2425832	NC_000012.11:g.(?_64849651)_(64854129_?)del	TBK1	Deletion	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2304937	NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)	TBK1 (R405C)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
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 2196924	NM_013254.4(TBK1):c.1340+3A>G	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2195991	NM_013254.4(TBK1):c.1248+18T>A	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2195297	NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)	TBK1 (H538Y)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2193886	NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)	TBK1 (I353T)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GUncertain significance
Select item 2193848	NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)	TBK1	Deletion (inframe_deletion)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
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 2184614	NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)	TBK1 (G410R)	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 2178127	NM_013254.4(TBK1):c.729T>G (p.Ser243=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2163558	NM_013254.4(TBK1):c.2155A>G (p.Met719Val)	TBK1 (M719V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2162176	NM_013254.4(TBK1):c.1089T>C (p.Pro363=)	TBK1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	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 2156034	NM_013254.4(TBK1):c.1960-20_1960-19insC	TBK1	Insertion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign
Select item 2150177	NM_013254.4(TBK1):c.2139-9G>A	TBK1	Single nucleotide variant (intron 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 2137386	NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)	TBK1 (S499*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
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 2134037	NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)	TBK1 (K197N)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2120161	NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)	TBK1 (G255R)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
Select item 2119798	NM_013254.4(TBK1):c.550A>G (p.Met184Val)	TBK1 (M184V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GUncertain significance
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 2109276	NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)	TBK1 (Y435*)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GPathogenic
Select item 2102210	NM_013254.4(TBK1):c.541-18T>C	TBK1	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	GLikely benign

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