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Did you mean TTN as a gene symbol? Search ClinVar for TTN

See TTN titin in the Gene database

Search results

Items: 1 to 100 of 7789

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:179484949
GRCh38:
Chr2:178620222
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001156521
2.
GRCh37:
Chr2:179484963
GRCh38:
Chr2:178620236
TTNE12861*, E13788*, E15429*, E6364*, E6489*, E6556*Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Oct 29, 2018)
criteria provided, single submitterVCV000655302
3.
GRCh37:
Chr2:179484967
GRCh38:
Chr2:178620240
TTNnot providedLikely benign
(Mar 1, 2019)
criteria provided, single submitterVCV000808999
4.
GRCh37:
Chr2:179484975
GRCh38:
Chr2:178620248
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Mar 5, 2019)
criteria provided, single submitterVCV000535727
5.
GRCh37:
Chr2:179484976
GRCh38:
Chr2:178620249
TTNY12856*, Y15424*, Y13783*, Y6359*, Y6484*, Y6551*Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Dec 28, 2019)
criteria provided, single submitterVCV000842206
6.
GRCh37:
Chr2:179484983
GRCh38:
Chr2:178620256
TTNK15422R, K6357R, K6482R, K12854R, K6549R, K13781Rnot providedUncertain significance
(Apr 1, 2017)
criteria provided, single submitterVCV000809000
7.
GRCh37:
Chr2:179484996-179484997
GRCh38:
Chr2:178620269-178620270
TTNK12850fs, K13777fs, K15418fs, K6545fs, K6353fs, K6478fsnot providedUncertain significance
(Jul 1, 2014)
criteria provided, single submitterVCV000202445
8.
GRCh37:
Chr2:179485012
GRCh38:
Chr2:178620285
TTNC12844*, C15412*, C13771*, C6472*, C6539*, C6347*Cardiomyopathy, Primary dilated cardiomyopathyLikely pathogenic
(May 15, 2017)
criteria provided, multiple submitters, no conflictsVCV000223308
9.
GRCh37:
Chr2:179485026
GRCh38:
Chr2:178620299
TTNA15408T, A6468T, A13767T, A12840T, A6535T, A6343TLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
Primary familial hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 28, 2018)
criteria provided, conflicting interpretationsVCV000180568
10.
GRCh37:
Chr2:179485027
GRCh38:
Chr2:178620300
TTNnot provided, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Feb 14, 2020)
criteria provided, conflicting interpretationsVCV000592898
11.
GRCh37:
Chr2:179485033
GRCh38:
Chr2:178620306
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Sep 24, 2019)
criteria provided, single submitterVCV000697043
12.
GRCh37:
Chr2:179485037
GRCh38:
Chr2:178620310
TTNE15404G, E6531G, E6464G, E12836G, E13763G, E6339GLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Feb 10, 2016)
criteria provided, single submitterVCV000238785
13.
GRCh37:
Chr2:179485040
GRCh38:
Chr2:178620313
TTNT13762I, T12835I, T15403I, T6338I, T6463I, T6530Inot providedUncertain significance
(Aug 24, 2015)
criteria provided, single submitterVCV000282279
14.
GRCh37:
Chr2:179485043
GRCh38:
Chr2:178620316
TTNV15402A, V12834A, V6337A, V6462A, V13761A, V6529ADilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Jul 15, 2019)
criteria provided, single submitterVCV000952503
15.
GRCh37:
Chr2:179485076
GRCh38:
Chr2:178620349
TTNT12823I, T6326I, T6518I, T13750I, T15391I, T6451IDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894792
16.
GRCh37:
Chr2:179485078
GRCh38:
Chr2:178620351
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Cardiomyopathy
Likely benign
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000698642
17.
GRCh37:
Chr2:179485079
GRCh38:
Chr2:178620352
TTNP15390L, P13749L, P6325L, P6450L, P12822L, P6517LLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Mar 24, 2017)
criteria provided, single submitterVCV000467172
18.
GRCh37:
Chr2:179485081
GRCh38:
Chr2:178620354
TTNnot providedLikely benign
(Jan 23, 2018)
criteria provided, single submitterVCV000742674
19.
GRCh37:
Chr2:179485088
GRCh38:
Chr2:178620361
TTNI15387T, I12819T, I6322T, I6514T, I13746T, I6447TDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided,
not specified
Uncertain significance
(Mar 2, 2017)
criteria provided, multiple submitters, no conflictsVCV000046998
20.
GRCh37:
Chr2:179485093
GRCh38:
Chr2:178620366
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Dec 23, 2019)
criteria provided, single submitterVCV001087367
21.
GRCh37:
Chr2:179485098
GRCh38:
Chr2:178620371
TTNL12816V, L15384V, L6444V, L6319V, L6511V, L13743Vnot specifiedUncertain significance
(Aug 7, 2015)
criteria provided, single submitterVCV000179721
22.
GRCh37:
Chr2:179485101
GRCh38:
Chr2:178620374
TTNE13742Q, E15383Q, E12815Q, E6510Q, E6318Q, E6443Qnot specified, not providedConflicting interpretations of pathogenicity
(Dec 21, 2020)
criteria provided, conflicting interpretationsVCV000506575
23.
GRCh37:
Chr2:179485106
GRCh38:
Chr2:178620379
TTNV15381A, V12813A, V6316A, V13740A, V6441A, V6508ADilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided
Benign/Likely benign
(Jul 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000413058
24.
GRCh37:
Chr2:179485120
GRCh38:
Chr2:178620393
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Mar 7, 2019)
criteria provided, single submitterVCV001085502
25.
GRCh37:
Chr2:179485153
GRCh38:
Chr2:178620426
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Nov 6, 2019)
criteria provided, single submitterVCV001084268
26.
GRCh37:
Chr2:179485156
GRCh38:
Chr2:178620429
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided
Likely benign
(Aug 29, 2020)
criteria provided, multiple submitters, no conflictsVCV001100239
27.
GRCh37:
Chr2:179485156-179485170
GRCh38:
Chr2:178620429-178620443
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified
Uncertain significance
(Feb 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000179718
28.
GRCh37:
Chr2:179485158-179485159
GRCh38:
Chr2:178620431-178620432
TTNC12795fs, C13722fs, C15363fs, C6298fs, C6423fs, C6490fsCardiomyopathyLikely pathogenic
(Apr 16, 2020)
criteria provided, single submitterVCV001329157
29.
GRCh37:
Chr2:179485169
GRCh38:
Chr2:178620442
TTNI12792T, I15360T, I13719T, I6295T, I6487T, I6420Tnot provided, Primary dilated cardiomyopathyConflicting interpretations of pathogenicity
(May 14, 2019)
criteria provided, conflicting interpretationsVCV000499602
30.
GRCh37:
Chr2:179485178-179485179
GRCh38:
Chr2:178620451-178620452
TTNM6484fs, M15357fs, M6292fs, M13716fs, M12789fs, M6417fsPrimary dilated cardiomyopathyLikely pathogenic
(Feb 20, 2013)
criteria provided, single submitterVCV000046997
31.
GRCh37:
Chr2:179485183
GRCh38:
Chr2:178620456
TTNK15355N, K12787N, K13714N, K6290N, K6415N, K6482NLimb-Girdle Muscular Dystrophy, Recessive, Dilated Cardiomyopathy, Dominant, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Cardiomyopathy, Hypertrophic cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, not specified, Tibial muscular dystrophy,
not provided, Myopathy, early-onset, with fatal cardiomyopathy ...see more
Conflicting interpretations of pathogenicity
(Jan 8, 2021)
criteria provided, conflicting interpretationsVCV000046995
32.
GRCh37:
Chr2:179485187
GRCh38:
Chr2:178620460
TTNY12786C, Y15354C, Y13713C, Y6289C, Y6481C, Y6414CCardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Uncertain significance
(May 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000263615
33.
GRCh37:
Chr2:179485204
GRCh38:
Chr2:178620477
TTNMyopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy, Limb-Girdle Muscular Dystrophy, Recessive, Dilated Cardiomyopathy, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000332860
34.
GRCh37:
Chr2:179485208
GRCh38:
Chr2:178620481
TTNV12779G, V13706G, V15347G, V6282G, V6407G, V6474Gnot providedLikely benign
(May 19, 2021)
criteria provided, single submitterVCV001212719
35.
GRCh37:
Chr2:179485211
GRCh38:
Chr2:178620484
TTNR12778H, R15346H, R6406H, R6281H, R6473H, R13705HLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not provided
Uncertain significance
(Apr 29, 2016)
criteria provided, single submitterVCV000202648
36.
GRCh37:
Chr2:179485212
GRCh38:
Chr2:178620485
TTNR15346C, R12778C, R6281C, R6406C, R6473C, R13705Cnot providedUncertain significance
(Jul 26, 2018)
criteria provided, single submitterVCV000586887
37.
GRCh37:
Chr2:179485213
GRCh38:
Chr2:178620486
TTNnot providedLikely benign
(May 2, 2018)
criteria provided, single submitterVCV000668154
38.
GRCh37:
Chr2:179485227-179485229
GRCh38:
Chr2:178620500-178620502
TTNE12772del, E15340del, E13699del, E6275del, E6400del, E6467delnot providedUncertain significance
(Aug 15, 2018)
criteria provided, single submitterVCV000598337
39.
GRCh37:
Chr2:179485237
GRCh38:
Chr2:178620510
TTNN6272fs, N12769fs, N13696fs, N6464fs, N15337fs, N6397fsnot providedUncertain significance
(Mar 23, 2017)
criteria provided, single submitterVCV000500916
40.
GRCh37:
Chr2:179485254
GRCh38:
Chr2:178620527
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not specified,
not provided
Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000516819
41.
GRCh37:
Chr2:179485255
GRCh38:
Chr2:178620528
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not provided
Likely benign
(Feb 25, 2018)
criteria provided, single submitterVCV000746527
42.
GRCh37:
Chr2:179485258-179485259
GRCh38:
Chr2:178620531-178620532
TTNT12763fs, T6458fs, T15331fs, T6391fs, T13690fs, T6266fsnot provided, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1A
Conflicting interpretations of pathogenicity
(Jan 29, 2019)
criteria provided, conflicting interpretationsVCV000504181
43.
GRCh37:
Chr2:179485262
GRCh38:
Chr2:178620535
TTNN15329S, N6264S, N6456S, N12761S, N13688S, N6389SCardiovascular phenotypeUncertain significance
(Jul 31, 2016)
criteria provided, single submitterVCV000518546
44.
GRCh37:
Chr2:179485268
GRCh38:
Chr2:178620541
TTNR15327H, R6262H, R13686H, R6454H, R6387H, R12759HCardiovascular phenotype, not providedUncertain significance
(Feb 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000264134
45.
GRCh37:
Chr2:179485269
GRCh38:
Chr2:178620542
TTNR12759C, R15327C, R6262C, R6454C, R13686C, R6387CInborn genetic diseases, Cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G,
not provided
Conflicting interpretations of pathogenicity
(Jun 25, 2019)
criteria provided, conflicting interpretationsVCV000332861
46.
GRCh37:
Chr2:179485270
GRCh38:
Chr2:178620543
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000755189
47.
GRCh37:
Chr2:179485271
GRCh38:
Chr2:178620544
TTNN12758I, N13685I, N15326I, N6261I, N6386I, N6453Inot providedUncertain significance
(Aug 21, 2019)
criteria provided, single submitterVCV001304873
48.
GRCh37:
Chr2:179485273
GRCh38:
Chr2:178620546
TTNnot specifiedBenignno assertion criteria providedVCV001284376
49.
GRCh37:
Chr2:179485303
GRCh38:
Chr2:178620576
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(May 26, 2020)
criteria provided, single submitterVCV000467171
50.
GRCh37:
Chr2:179485306
GRCh38:
Chr2:178620579
TTNM6249I, M6441I, M12746I, M13673I, M15314I, M6374IMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892822
51.
GRCh37:
Chr2:179485308
GRCh38:
Chr2:178620581
TTNM12746V, M15314V, M6249V, M6374V, M13673V, M6441Vnot specifiedUncertain significance
(Apr 12, 2019)
criteria provided, single submitterVCV000618453
52.
GRCh37:
Chr2:179485308
GRCh38:
Chr2:178620581
TTNM15314L, M12746L, M6374L, M13673L, M6441L, M6249LLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 7, 2017)
criteria provided, single submitterVCV000467170
53.
GRCh37:
Chr2:179485332
GRCh38:
Chr2:178620605
TTNE15306K, E12738K, E6241K, E13665K, E6366K, E6433KLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not provided
Uncertain significance
(Oct 20, 2021)
criteria provided, multiple submitters, no conflictsVCV000535167
54.
GRCh37:
Chr2:179485351
GRCh38:
Chr2:178620624
TTNE6234D, E6426D, E6359D, E13658D, E12731D, E15299DMyopathy, myofibrillar, 9, with early respiratory failureUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV001034242
55.
GRCh37:
Chr2:179485354
GRCh38:
Chr2:178620627
TTNPrimary dilated cardiomyopathyLikely pathogenic
(Aug 3, 2015)
criteria provided, single submitterVCV000222867
56.
GRCh37:
Chr2:179485425
GRCh38:
Chr2:178620698
TTNnot specifiedUncertain significance
(Apr 15, 2021)
criteria provided, single submitterVCV001065136
57.
GRCh37:
Chr2:179485432
GRCh38:
Chr2:178620705
TTNnot specifiedLikely benign
(Feb 3, 2015)
criteria provided, single submitterVCV000228096
58.
GRCh37:
Chr2:179485433
GRCh38:
Chr2:178620706
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Nov 6, 2020)
criteria provided, single submitterVCV001141149
59.
GRCh37:
Chr2:179485437
GRCh38:
Chr2:178620710
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(May 18, 2018)
criteria provided, single submitterVCV000578251
60.
GRCh37:
Chr2:179485441
GRCh38:
Chr2:178620714
TTNPrimary dilated cardiomyopathyLikely pathogenic
(Jan 28, 2014)
criteria provided, single submitterVCV000178984
61.
GRCh37:
Chr2:179485442
GRCh38:
Chr2:178620715
TTNE15299K, E12731K, E6426K, E6359K, E13658K, E6234Knot specified, not providedUncertain significance
(Oct 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000046994
62.
GRCh37:
Chr2:179485444
GRCh38:
Chr2:178620717
TTNE12730G, E15298G, E13657G, E6358G, E6425G, E6233GLimb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000332862
63.
GRCh37:
Chr2:179485447
GRCh38:
Chr2:178620720
TTNV15297A, V12729A, V13656A, V6357A, V6424A, V6232ACardiomyopathyUncertain significance
(Jul 5, 2019)
criteria provided, single submitterVCV000915700
64.
GRCh37:
Chr2:179485467
GRCh38:
Chr2:178620740
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Oct 25, 2020)
criteria provided, single submitterVCV001138702
65.
GRCh37:
Chr2:179485482
GRCh38:
Chr2:178620755
TTNR13644S, R15285S, R6220S, R6412S, R12717S, R6345Snot specifiedUncertain significance
(Feb 6, 2014)
criteria provided, single submitterVCV000202647
66.
GRCh37:
Chr2:179485484-179485485
GRCh38:
Chr2:178620757-178620758
TTNH12716fs, H13643fs, H15284fs, H6219fs, H6344fs, H6411fsnot providedLikely pathogenic
(Jan 12, 2021)
criteria provided, single submitterVCV001202776
67.
GRCh37:
Chr2:179485498
GRCh38:
Chr2:178620771
TTNS12712F, S13639F, S15280F, S6215F, S6340F, S6407FCardiomyopathyUncertain significance
(Aug 19, 2020)
criteria provided, single submitterVCV001329156
68.
GRCh37:
Chr2:179485499-179485500
GRCh38:
Chr2:178620772-178620773
TTNS12712fs, S6340fs, S6407fs, S6215fs, S13639fs, S15280fsDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JUncertain significance
(Dec 3, 2019)
criteria provided, single submitterVCV000862464
69.
GRCh37:
Chr2:179485502
GRCh38:
Chr2:178620775
TTNV15279M, V6406M, V13638M, V6214M, V6339Mnot providedUncertain significance
(Jan 6, 2014)
criteria provided, single submitterVCV000167784
70.
GRCh37:
Chr2:179485506
GRCh38:
Chr2:178620779
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Aug 11, 2019)
criteria provided, single submitterVCV001128298
71.
GRCh37:
Chr2:179485517
GRCh38:
Chr2:178620790
TTNQ12706E, Q13633E, Q15274E, Q6209E, Q6334E, Q6401Enot providedUncertain significance
(May 14, 2019)
criteria provided, single submitterVCV001305741
72.
GRCh37:
Chr2:179485523
GRCh38:
Chr2:178620796
TTND13631fs, D6332fs, D15272fs, D6207fs, D6399fs, D12704fsLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Jul 30, 2019)
criteria provided, single submitterVCV000649938
73.
GRCh37:
Chr2:179485525
GRCh38:
Chr2:178620798
TTNL15271*, L6331*, L6398*, L6206*, L12703*, L13630*Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitterVCV000223276
74.
GRCh37:
Chr2:179485545
GRCh38:
Chr2:178620818
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Jan 8, 2019)
criteria provided, single submitterVCV000698202
75.
GRCh37:
Chr2:179485551
GRCh38:
Chr2:178620824
TTNMyopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000893629
76.
GRCh37:
Chr2:179485558
GRCh38:
Chr2:178620831
TTNL15260P, L12692P, L13619P, L6320P, L6387P, L6195PLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
not provided
Likely benign
(Aug 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000238784
77.
GRCh37:
Chr2:179485573-179485579
GRCh38:
Chr2:178620846-178620852
TTNY15253fs, Y6380fs, Y12685fs, Y6313fs, Y13612fs, Y6188fsCardiomyopathyLikely pathogenic
(Oct 30, 2017)
criteria provided, single submitterVCV000626683
78.
GRCh37:
Chr2:179485577
GRCh38:
Chr2:178620850
TTNI12686F, I15254F, I13613F, I6381F, I6314F, I6189Fnot provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Mar 15, 2021)
criteria provided, conflicting interpretationsVCV000288762
79.
GRCh37:
Chr2:179485578
GRCh38:
Chr2:178620851
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Cardiomyopathy
Likely benign
(Apr 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000626684
80.
GRCh37:
Chr2:179485580-179485581
GRCh38:
Chr2:178620853-178620854
TTNY15253fs, Y6380fs, Y12685fs, Y13612fs, Y6188fs, Y6313fsPrimary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitterVCV000224649
81.
GRCh37:
Chr2:179485589
GRCh38:
Chr2:178620862
TTNS12682C, S15250C, S13609C, S6377C, S6185C, S6310CCardiovascular phenotype, not providedConflicting interpretations of pathogenicity
(Mar 24, 2020)
criteria provided, conflicting interpretationsVCV000263564
82.
GRCh37:
Chr2:179485591
GRCh38:
Chr2:178620864
TTND13608G, D15249G, D12681G, D6309G, D6184G, D6376GDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000893914
83.
GRCh37:
Chr2:179485599
GRCh38:
Chr2:178620872
TTNMyopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G, not provided,
Cardiovascular phenotype, not specified, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000046993
84.
GRCh37:
Chr2:179485600
GRCh38:
Chr2:178620873
TTNA15246V, A12678V, A13605V, A6181V, A6306V, A6373VLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 28, 2017)
criteria provided, single submitterVCV000535080
85.
GRCh37:
Chr2:179485607
GRCh38:
Chr2:178620880
TTNE12676*, E13603*, E6304*, E15244*, E6179*, E6371*Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Sep 16, 2020)
criteria provided, single submitterVCV001039000
86.
GRCh37:
Chr2:179485612
GRCh38:
Chr2:178620885
TTNR15242I, R6177I, R6302I, R6369I, R12674I, R13601IMyopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000892846
87.
GRCh37:
Chr2:179485612
GRCh38:
Chr2:178620885
TTNR13601K, R15242K, R6369K, R12674K, R6177K, R6302KLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified
Uncertain significance
(Jun 20, 2016)
criteria provided, multiple submitters, no conflictsVCV000202646
88.
GRCh37:
Chr2:179485613
GRCh38:
Chr2:178620886
TTNR13601G, R15242G, R6302G, R6177G, R12674G, R6369Gnot specifiedUncertain significance
(May 14, 2014)
criteria provided, single submitterVCV000202645
89.
GRCh37:
Chr2:179485618
GRCh38:
Chr2:178620891
TTNW13599*, W6300*, W6367*, W12672*, W6175*, W15240*Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GUncertain significance
(Oct 3, 2019)
criteria provided, single submitterVCV000967737
90.
GRCh37:
Chr2:179485629
GRCh38:
Chr2:178620902
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Jul 15, 2019)
criteria provided, single submitterVCV001113565
91.
GRCh37:
Chr2:179485644
GRCh38:
Chr2:178620917
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Oct 3, 2019)
criteria provided, single submitterVCV001101514
92.
GRCh37:
Chr2:179485649
GRCh38:
Chr2:178620922
TTNE15230K, E6290K, E13589K, E6357K, E12662K, E6165KDiastolic dysfunctionUncertain significance
(Feb 12, 2014)
no assertion criteria providedVCV000180567
93.
GRCh37:
Chr2:179485664
GRCh38:
Chr2:178620937
TTNV12657I, V6352I, V15225I, V6285I, V13584I, V6160Inot providedLikely benign
(Apr 23, 2018)
criteria provided, single submitterVCV000682458
94.
GRCh37:
Chr2:179485680
GRCh38:
Chr2:178620953
TTNDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2JLikely benign
(Feb 5, 2020)
criteria provided, single submitterVCV000702754
95.
GRCh37:
Chr2:179485682
GRCh38:
Chr2:178620955
TTNV12651L, V13578L, V15219L, V6154L, V6279L, V6346Lnot providedUncertain significance
(Nov 12, 2019)
criteria provided, single submitterVCV001310245
96.
GRCh37:
Chr2:179485684
GRCh38:
Chr2:178620957
TTNR6345Q, R13577Q, R6153Q, R6278Q, R12650Q, R15218QMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892847
97.
GRCh37:
Chr2:179485685
GRCh38:
Chr2:178620958
TTNR15218W, R12650W, R6278W, R6345W, R13577W, R6153WLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
not provided
Conflicting interpretations of pathogenicity
(Jun 30, 2020)
criteria provided, conflicting interpretationsVCV000535417
98.
GRCh37:
Chr2:179485706
GRCh38:
Chr2:178620979
TTNV13570I, V15211I, V12643I, V6338I, V6146I, V6271Inot specifiedLikely benign
(Sep 7, 2017)
criteria provided, single submitterVCV000516968
99.
GRCh37:
Chr2:179485707
GRCh38:
Chr2:178620980
TTNnot providedLikely benign
(Apr 10, 2018)
criteria provided, single submitterVCV000682162
100.
GRCh37:
Chr2:179485730
GRCh38:
Chr2:178621003
TTNnot provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Likely benign
(Mar 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000753472
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