ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 109
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HGVS dbSNP
NM_001256850.1(TTN):c.81898+2T>A rs397517735
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.107198_107223+4del rs1553479603
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13614dup (p.Asn4539Ter) rs876657673
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) rs752856716
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.48761-1G>C rs876657665
NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) rs727504825
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.52222_52225AAGA[1] (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) rs397517626
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.70275del (p.Ser23425fs) rs727504655
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.72832dup (p.Thr24278fs) rs876657669
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.77421dup (p.Ser25808fs) rs730880343
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8305_8306TG[1] (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90778dup (p.Tyr30260fs) rs397517750
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94340_94343AGAA[1] (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) rs876657671
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99866-1G>A rs876657672
NM_133378.4(TTN):c.73246G>T
NM_133378.4(TTN):c.74821C>T
NM_133378.4(TTN):c.97243C>T
NM_133378.4(TTN):c.[68689_68692delAACA;98315delG]
NM_133379.5(TTN):c.1800+1G>A rs397517497

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