List of variants reported as uncertain significance for frontotemporal dementia and/or amyotrophic lateral sclerosis 4 by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)	rs144370662	0.00015
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)	rs34774243	0.00011
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met)	rs755520364	0.00007
NM_013254.4(TBK1):c.1718G>A (p.Arg573His)	rs186475789	0.00005
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val)	rs755655622	0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)	rs748061846	0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	rs779715292	0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr)	rs199905735	0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)	rs899858451	0.00004
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys)	rs780192375	0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr)	rs755069538	0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala)	rs765585935	0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val)	rs781325780	0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu)	rs202011771	0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)	rs200758840	0.00003
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu)	rs748571947	0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile)	rs1433610854	0.00002
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys)	rs772820487	0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg)	rs375610142	0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys)	rs1366668789	0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)	rs746971642	0.00002
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr)	rs763874949	0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp)	rs753595352	0.00001
NM_013254.4(TBK1):c.1443A>T (p.Val481=)	rs1396706988	0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg)	rs1206925876	0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val)	rs768023625	0.00001
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala)	rs371955059	0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln)	rs1337698475	0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala)	rs41292021	0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=)	rs769584803	0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His)	rs748622208	0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val)	rs751890932	0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	rs905184241	0.00001
NM_013254.4(TBK1):c.962C>T (p.Ala321Val)	rs762705031	0.00001
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser)	rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile)	rs1592369002
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp)	rs1267274595
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile)	rs201332131
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln)	rs2136079527
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1341-10_1341-9del
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu)	rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser)	rs369875862
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala)	rs2136056652
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser)	rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala)	rs1010930015
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met)	rs375618295
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys)	rs922333386
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)	rs1192216525
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp)	rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys)	rs776059942
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+2dup	rs2136087264
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly)	rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met)	rs1042991833
NM_013254.4(TBK1):c.1760+4_1760+7del	rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu)	rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile)	rs2136088188
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile)	rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His)	rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del)	rs2136088359
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn)	rs1592376939
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly)	rs2136089009
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser)	rs1306279522
NM_013254.4(TBK1):c.2067-7T>A	rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser)	rs2136089194
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del)	rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser)	rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val)	rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser)	rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+4A>C	rs2136056750
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)	rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile)	rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+5G>A	rs2136061124
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr)	rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)	rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys)	rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	rs55824172
NM_013254.4(TBK1):c.511G>A (p.Val171Ile)	rs2136063606
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile)	rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His)	rs2136063631
NM_013254.4(TBK1):c.541-3T>G	rs747738866
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu)	rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile)	rs2136069875
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp)	rs576726084
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr)	rs1555203984
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.813-3T>C	rs2040770701
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe)	rs2136052800
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.935A>G (p.His312Arg)

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