ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_001256850.1(TTN):c.102182C>T (p.Pro34061Leu) rs772957495
NM_001256850.1(TTN):c.15205A>G (p.Met5069Val) rs567457007
NM_001256850.1(TTN):c.15566C>T (p.Ser5189Phe) rs201125295
NM_001256850.1(TTN):c.19106G>A (p.Arg6369Gln) rs202022304
NM_001256850.1(TTN):c.22114G>A (p.Asp7372Asn) rs727505052
NM_001256850.1(TTN):c.2734C>T (p.Arg912Cys) rs371156190
NM_001256850.1(TTN):c.29438G>A (p.Arg9813His) rs373355159
NM_001256850.1(TTN):c.31816A>C (p.Lys10606Gln) rs367720439
NM_001256850.1(TTN):c.34477G>T (p.Val11493Leu) rs398124448
NM_001256850.1(TTN):c.44490G>T (p.Trp14830Cys) rs202094100
NM_001256850.1(TTN):c.46324G>T (p.Val15442Phe) rs746817480
NM_001256850.1(TTN):c.48236T>C (p.Ile16079Thr) rs201358641
NM_001256850.1(TTN):c.50216T>C (p.Ile16739Thr) rs72646819
NM_001256850.1(TTN):c.52733A>T (p.Tyr17578Phe) rs201541213
NM_001256850.1(TTN):c.53474G>C (p.Gly17825Ala) rs201922910
NM_001256850.1(TTN):c.55003C>T (p.His18335Tyr) rs727503588
NM_001256850.1(TTN):c.61468A>G (p.Thr20490Ala) rs140842479
NM_001256850.1(TTN):c.62869A>C (p.Ser20957Arg) rs775579156
NM_001256850.1(TTN):c.63868A>C (p.Ser21290Arg) rs794729484
NM_001256850.1(TTN):c.65647A>G (p.Thr21883Ala) rs369526268
NM_001256850.1(TTN):c.66800G>A (p.Gly22267Asp) rs540161344
NM_001256850.1(TTN):c.79462G>T (p.Val26488Phe) rs752974639
NM_001256850.1(TTN):c.89359C>A (p.Arg29787Ser) rs190282707
NM_001256850.1(TTN):c.90160G>A (p.Gly30054Arg) rs376403373
NM_001256850.1(TTN):c.90950G>A (p.Arg30317Gln) rs763270971
NM_001256850.1(TTN):c.91217C>T (p.Thr30406Met) rs375640847
NM_001256850.1(TTN):c.91714G>A (p.Asp30572Asn) rs764561909
NM_001256850.1(TTN):c.94037C>T (p.Ser31346Phe) rs746380940
NM_001256850.1(TTN):c.95477T>G (p.Val31826Gly) rs200166942
NM_001256850.1(TTN):c.95509T>G (p.Trp31837Gly) rs372304158
NM_001256850.1(TTN):c.95524G>C (p.Glu31842Gln) rs368321767
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) rs753769495
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) rs886042785
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val)
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser) rs774425875
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val) rs763125654
NM_001267550.2(TTN):c.22384_22385delGAinsCG (p.Asp7462Arg) rs1060500493
NM_001267550.2(TTN):c.2371-1G>A
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln) rs778565859
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr) rs769915175
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu) rs371317962
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe) rs774402932
NM_001267550.2(TTN):c.40558+1G>A rs368219776
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu) rs745311218
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val)
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) rs746319976
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys) rs767887086
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr) rs772411127
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu) rs1002726225
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile) rs886042786
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile) rs757768218
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys) rs756679529
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu) rs368323634
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538
NM_001267550.2(TTN):c.98959_98960delTCinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261
NM_003319.4(TTN):c.19178G>A (p.Cys6393Tyr) rs377564388
NM_003319.4(TTN):c.28657T>C (p.Cys9553Arg) rs369260968
NM_003319.4(TTN):c.35986C>T (p.Pro11996Ser) rs375401971
NM_003319.4(TTN):c.54542T>C (p.Ile18181Thr) rs367603381
NM_003319.4(TTN):c.57781C>T (p.Arg19261Trp) rs749633038
NM_003319.4(TTN):c.62357C>A (p.Ala20786Asp) rs774885355
NM_133378.4(TTN):c.17C>T (p.Pro6Leu) rs201490999
NM_133378.4(TTN):c.21159G>T (p.Trp7053Cys) rs727504205
NM_133378.4(TTN):c.21173C>A (p.Thr7058Lys) rs549604128
NM_133378.4(TTN):c.21721A>G (p.Ile7241Val)
NM_133378.4(TTN):c.22145A>G (p.Asn7382Ser) rs200355367
NM_133378.4(TTN):c.28294A>G (p.Lys9432Glu) rs200952728
NM_133378.4(TTN):c.28921A>T (p.Met9641Leu) rs200732179
NM_133378.4(TTN):c.31982C>A (p.Pro10661His) rs770419196
NM_133378.4(TTN):c.36096A>C (p.Lys12032Asn)
NM_133378.4(TTN):c.46877G>A (p.Gly15626Asp) rs201802447
NM_133378.4(TTN):c.48551C>T (p.Pro16184Leu) rs200132226
NM_133378.4(TTN):c.49738A>G (p.Met16580Val) rs188185141
NM_133378.4(TTN):c.58712G>A (p.Gly19571Asp)
NM_133378.4(TTN):c.61120G>A (p.Glu20374Lys) rs199506676
NM_133378.4(TTN):c.6668A>T (p.His2223Leu) rs372979075
NM_133378.4(TTN):c.75914T>C (p.Val25305Ala) rs200775919
NM_133378.4(TTN):c.81314G>A (p.Arg27105Gln) rs200639218
NM_133378.4(TTN):c.81610G>A (p.Glu27204Lys) rs200503016
NM_133378.4(TTN):c.83130T>A (p.Ser27710Arg) rs397517751
NM_133378.4(TTN):c.84857T>C (p.Ile28286Thr) rs368427408
NM_133378.4(TTN):c.9683C>G (p.Ser3228Cys) rs371249764
NM_133378.4(TTN):c.99133T>G (p.Ser33045Ala) rs374405802

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