ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NM_001256850.1(TTN):c.30895+1G>A rs794727043
NM_001256850.1(TTN):c.48958+5G>T rs753527304
NM_001256850.1(TTN):c.62425+1G>A rs758279518
NM_001256850.1(TTN):c.83086+5G>A rs148231754
NM_001267550.1(TTN):c.62722C>T rs543860009
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs) rs1553501572
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931
NM_001267550.2(TTN):c.100897C>T (p.Gln33633Ter) rs1553500574
NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter) rs1553500506
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.102788del (p.Pro34263fs) rs1553493639
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.107377+5G>A rs780526209
NM_001267550.2(TTN):c.107681-4_107710del rs1553476928
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter) rs747289468
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs) rs794729311
NM_001267550.2(TTN):c.22569_22570TA[1] (p.Ile7524fs) rs1553909995
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.42946+1G>T rs1553741531
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44663del (p.Asn14888fs) rs1057518065
NM_001267550.2(TTN):c.47133_47134AG[2] (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49700C>G (p.Ser16567Ter) rs1553699802
NM_001267550.2(TTN):c.50069del (p.Lys16690fs) rs1064796139
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs) rs794729321
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50552-2A>G rs794729266
NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter) rs1553696411
NM_001267550.2(TTN):c.51436+1G>A rs761807131
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs) rs1553691187
NM_001267550.2(TTN):c.52999C>T (p.Gln17667Ter) rs794729272
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter) rs794729274
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs) rs1553679072
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.60282_60283CA[1] (p.Thr20095fs) rs1553644362
NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter) rs1064796977
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs) rs1131691981
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.63229_63230del (p.Thr21077fs) rs1553638608
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter) rs1057523344
NM_001267550.2(TTN):c.64972+1G>T rs1057518009
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter) rs1131692031
NM_001267550.2(TTN):c.66767T>G (p.Leu22256Ter) rs1064794716
NM_001267550.2(TTN):c.66769+1G>A rs1057521946
NM_001267550.2(TTN):c.66804_66807del (p.Lys22269fs) rs1064796186
NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter) rs1559490694
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68995del (p.Thr22999fs) rs1064796389
NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter) rs1553616431
NM_001267550.2(TTN):c.69645del (p.Ser23215fs) rs794729333
NM_001267550.2(TTN):c.70128del (p.Thr23377fs) rs1553614521
NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter) rs1553612999
NM_001267550.2(TTN):c.71298dup (p.Arg23767fs) rs1553611773
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter) rs1553604563
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs) rs1553604316
NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter) rs1064794930
NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter) rs780415493
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75492del (p.Phe25165fs) rs1057517937
NM_001267550.2(TTN):c.75665dup (p.Cys25222fs) rs1553602978
NM_001267550.2(TTN):c.76631G>A (p.Trp25544Ter) rs794729383
NM_001267550.2(TTN):c.77212C>T (p.Gln25738Ter) rs1057523502
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78225del (p.Ala26076fs) rs1553596392
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) rs1559364892
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter) rs267599036
NM_001267550.2(TTN):c.78977del (p.Lys26326fs) rs1553592771
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79145dup (p.Asn26382fs) rs886041453
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) rs763822931
NM_001267550.2(TTN):c.79278del (p.Asp26427fs) rs1064796574
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs) rs1553586069
NM_001267550.2(TTN):c.80452G>T (p.Glu26818Ter) rs1553583434
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) rs1559330805
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.82193del (p.Gly27398fs) rs1064795346
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243
NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter) rs1060503941
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) rs1559321340
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
NM_001267550.2(TTN):c.82893_82894CA[1] (p.Thr27632fs) rs796267411
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter) rs794729295
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.84059del (p.Leu28020fs) rs794729352
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter) rs772842119
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter) rs1057520803
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.86627del (p.Pro28876fs) rs1064794754
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001267550.2(TTN):c.87247del (p.Val29083fs) rs1553555919
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter) rs1057518275
NM_001267550.2(TTN):c.87848del (p.Leu29283fs) rs794729359
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.88696del (p.Ile29566fs) rs1064796323
NM_001267550.2(TTN):c.89084dup (p.Thr29696fs) rs1553544064
NM_001267550.2(TTN):c.89197+1G>C rs1131691873
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472
NM_001267550.2(TTN):c.89896_89899ATTA[1] (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.89916_89917GA[2] (p.Asp29974fs) rs1553540975
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs) rs794729363
NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter) rs1559200525
NM_001267550.2(TTN):c.91271-1G>A rs1057522831
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter) rs1559151333
NM_001267550.2(TTN):c.95032T>G (p.Cys31678Gly) rs2555818
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs) rs1553520581
NM_001267550.2(TTN):c.95549del (p.Lys31850fs) rs1064795399
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter) rs1064794982
NM_133379.5(TTN):c.1800+1G>A rs397517497

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