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Items: 1 to 100 of 5611

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:156105053
GRCh38:
Chr1:156135262
LMNAR184C, R215C, R296CCharcot-Marie-Tooth disease, type 2, CardiomyopathyUncertain significance
(Jun 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000652575
2.
GRCh37:
Chr1:156106973
GRCh38:
Chr1:156137182
LMNAW520R, W408R, W439RCharcot-Marie-Tooth disease, type 2Pathogenic
(Jul 15, 2019)
criteria provided, single submitterVCV000476824
3.
GRCh37:
Chr1:207958446
GRCh38:
Chr1:207785101
CD46A353V, A323V, A338V, A309V, A324Vnot specified, Atypical hemolytic-uremic syndrome 2, not provided,
Myofibrillar myopathy, BAG3-related
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000294975
4.
GRCh37:
Chr1:229568338
GRCh38:
Chr1:229432591
ACTA1A140GNemaline myopathy 3Pathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000565462
5.
GRCh37:
Chr1:229568534
Chr1:229568535
GRCh38:
Chr1:229432787
Chr1:229432788
ACTA1, ACTA1H75YNemaline myopathy 3Pathogenic
(Jul 1, 2009)
no assertion criteria providedVCV000018293
6.
GRCh37:
Chr1:236920811
GRCh38:
Chr1:236757511
ACTN2L727R, L519RMyopathy, congenital, with structured cores and z-line abnormalitiesLikely pathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV000694345
7.
GRCh37:
Chr2:179390724
GRCh38:
Chr2:178525997
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332662
8.
GRCh37:
Chr2:179390771
GRCh38:
Chr2:178526044
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332663
9.
GRCh37:
Chr2:179390820
GRCh38:
Chr2:178526093
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332664
10.
GRCh37:
Chr2:179390826
GRCh38:
Chr2:178526099
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332665
11.
GRCh37:
Chr2:179390841
GRCh38:
Chr2:178526114
TTN-AS1, TTNLimb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894547
12.
GRCh37:
Chr2:179391075
GRCh38:
Chr2:178526348
TTN, TTN-AS1Dilated cardiomyopathy 1G, not provided, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Benign/Likely benign
(May 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000332666
13.
GRCh37:
Chr2:179391103
GRCh38:
Chr2:178526376
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332667
14.
GRCh37:
Chr2:179391106
GRCh38:
Chr2:178526379
TTN, TTN-AS1Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Mar 16, 2018)
criteria provided, single submitterVCV000893121
15.
GRCh37:
Chr2:179391116
GRCh38:
Chr2:178526389
TTN-AS1, TTNDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000332668
16.
GRCh37:
Chr2:179391152
GRCh38:
Chr2:178526425
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332669
17.
GRCh37:
Chr2:179391235
GRCh38:
Chr2:178526508
TTN, TTN-AS1Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000894175
18.
GRCh37:
Chr2:179391459
GRCh38:
Chr2:178526732
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332670
19.
GRCh37:
Chr2:179391465
GRCh38:
Chr2:178526738
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332671
20.
GRCh37:
Chr2:179391542
GRCh38:
Chr2:178526815
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332672
21.
GRCh37:
Chr2:179391556
GRCh38:
Chr2:178526829
TTN-AS1, TTNMyopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893373
22.
GRCh37:
Chr2:179391598
GRCh38:
Chr2:178526871
TTN-AS1, TTNDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000893374
23.
GRCh37:
Chr2:179391609
GRCh38:
Chr2:178526882
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000332673
24.
GRCh37:
Chr2:179391639-179391640
GRCh38:
Chr2:178526912-178526913
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, not provided, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy
Benign/Likely benign
(Aug 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000332674
25.
GRCh37:
Chr2:179391680
GRCh38:
Chr2:178526953
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000332675
26.
GRCh37:
Chr2:179391714
GRCh38:
Chr2:178526987
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332676
27.
GRCh37:
Chr2:179391733
GRCh38:
Chr2:178527006
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, not provided,
not specified, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Mar 17, 2020)
criteria provided, conflicting interpretationsVCV000332677
28.
GRCh37:
Chr2:179391754
GRCh38:
Chr2:178527027
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, not specified,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Cardiomyopathy, Cardiovascular phenotype ...see more
Conflicting interpretations of pathogenicity
(Dec 3, 2020)
criteria provided, conflicting interpretationsVCV000178150
29.
GRCh37:
Chr2:179391826
GRCh38:
Chr2:178527099
TTN, TTN-AS1K27023fs, K27090fs, K26898fs, K35963fs, K33395fs, K34322fsTibial muscular dystrophy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Pathogenic
(Nov 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000038439
30.
GRCh37:
Chr2:179391949
GRCh38:
Chr2:178527222
TTN, TTN-AS1Cardiovascular phenotype, not provided, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, not specified, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Jul 18, 2021)
criteria provided, conflicting interpretationsVCV000046574
31.
GRCh37:
Chr2:179392015
GRCh38:
Chr2:178527288
TTN, TTN-AS1Cardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
not provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Cardiomyopathy, not specified, none provided,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failureDilated cardiomyopathy 1G,
...see more
Benign/Likely benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000047723
32.
GRCh37:
Chr2:179392248
GRCh38:
Chr2:178527521
TTN, TTN-AS1S35869G, S33301G, S34228G, S26804G, S26996G, S26929GCardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000047722
33.
GRCh37:
Chr2:179392277
GRCh38:
Chr2:178527550
TTN, TTN-AS1M35859T, M33291T, M34218T, M26986T, M26794T, M26919Tnot provided, Cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, not specified,
Cardiovascular phenotype, Myopathy, early-onset, with fatal cardiomyopathyMyopathy, myofibrillar, 9, with early respiratory failure,
...see more
Conflicting interpretations of pathogenicity
(Apr 20, 2021)
criteria provided, conflicting interpretationsVCV000047720
34.
GRCh37:
Chr2:179392456
GRCh38:
Chr2:178527729
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Cardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, none provided, Cardiomyopathy,
not specified, not providedDilated cardiomyopathy 1G,
...see more
Conflicting interpretations of pathogenicity
(Jun 1, 2021)
criteria provided, conflicting interpretationsVCV000137821
35.
GRCh37:
Chr2:179392987
GRCh38:
Chr2:178528260
TTN, TTN-AS1Myopathy, early-onset, with fatal cardiomyopathy, none provided, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, not specified, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(Dec 20, 2019)
criteria provided, conflicting interpretationsVCV000178151
36.
GRCh37:
Chr2:179393030
GRCh38:
Chr2:178528303
TTN, TTN-AS1C26718F, C26843F, C26910F, C33215F, C34142F, C35783FLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Aug 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000952359
37.
GRCh37:
Chr2:179393111
GRCh38:
Chr2:178528384
TTN, TTN-AS1V35756A, V33188A, V34115A, V26883A, V26816A, V26691ALimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Cardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, not specified, Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(Jan 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000047718
38.
GRCh37:
Chr2:179393297
GRCh38:
Chr2:178528570
TTN, TTN-AS1Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, not provided
Conflicting interpretations of pathogenicity
(Jun 1, 2021)
criteria provided, conflicting interpretationsVCV000894272
39.
GRCh37:
Chr2:179393373
GRCh38:
Chr2:178528646
TTN, TTN-AS1P34061L, P35702L, P33134L, P26637L, P26829L, P26762LDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Familial hypertrophic cardiomyopathy 9,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 31, 2018)
criteria provided, conflicting interpretationsVCV000203112
40.
GRCh37:
Chr2:179393389
GRCh38:
Chr2:178528662
TTN, TTN-AS1E33129Q, E35697Q, E34056Q, E26632Q, E26757Q, E26824Qnot specified, not provided, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Apr 23, 2021)
criteria provided, conflicting interpretationsVCV000191806
41.
GRCh37:
Chr2:179393398
GRCh38:
Chr2:178528671
TTN, TTN-AS1L35694V, L26821V, L33126V, L26754V, L26629V, L34053Vnot provided, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(May 3, 2021)
criteria provided, conflicting interpretationsVCV000238701
42.
GRCh37:
Chr2:179393482
GRCh38:
Chr2:178528755
TTN, TTN-AS1Q33098E, Q35666E, Q26726E, Q26793E, Q34025E, Q26601EMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332678
43.
GRCh37:
Chr2:179393521
GRCh38:
Chr2:178528794
TTN, TTN-AS1Y35653D, Y33085D, Y26780D, Y34012D, Y26713D, Y26588DLimb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Uncertain significance
(Dec 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000282856
44.
GRCh37:
Chr2:179393523
GRCh38:
Chr2:178528796
TTN, TTN-AS1R35652Q, R33084Q, R34011Q, R26587Q, R26779Q, R26712QCardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Cardiomyopathy,
none provided, not specified, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophyDilated cardiomyopathy 1G,
...see more
Conflicting interpretations of pathogenicity
(Jul 21, 2020)
criteria provided, conflicting interpretationsVCV000047717
45.
GRCh37:
Chr2:179393552
GRCh38:
Chr2:178528825
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 9, 2020)
criteria provided, conflicting interpretationsVCV000332679
46.
GRCh37:
Chr2:179393558
GRCh38:
Chr2:178528831
TTN-AS1, TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Cardiovascular phenotype, Tibial muscular dystrophy,
not specified, Dilated cardiomyopathy 1G, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(Mar 10, 2021)
criteria provided, conflicting interpretationsVCV000047716
47.
GRCh37:
Chr2:179393602
GRCh38:
Chr2:178528875
TTN, TTN-AS1L33058V, L35626V, L26561V, L26686V, L26753V, L33985VDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, not specified, Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000178152
48.
GRCh37:
Chr2:179393641
GRCh38:
Chr2:178528914
TTN-AS1, TTNS35613A, S33045A, S33972A, S26673A, S26548A, S26740ALimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Familial hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G,
not specified, Tibial muscular dystrophyMyopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, not provided, Myopathy, early-onset, with fatal cardiomyopathy,
...see more
Conflicting interpretations of pathogenicity
(Oct 16, 2020)
criteria provided, conflicting interpretationsVCV000047714
49.
GRCh37:
Chr2:179393658
GRCh38:
Chr2:178528931
TTN, TTN-AS1A33039V, A35607V, A33966V, A26542V, A26667V, A26734Vnot provided, not specified, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 14, 2020)
criteria provided, conflicting interpretationsVCV000179036
50.
GRCh37:
Chr2:179393677
GRCh38:
Chr2:178528950
TTN, TTN-AS1E35601K, E33960K, E26661K, E33033K, E26536K, E26728KMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Mar 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000567990
51.
GRCh37:
Chr2:179393691
GRCh38:
Chr2:178528964
TTN, TTN-AS1T35596I, T33028I, T33955I, T26656I, T26531I, T26723IMyopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy,
none provided, Cardiomyopathy, Cardiovascular phenotype,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, not specifiednot provided,
...see more
Conflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000047712
52.
GRCh37:
Chr2:179393755
GRCh38:
Chr2:178529028
TTN, TTN-AS1E33007K, E35575K, E33934K, E26635K, E26510K, E26702KMyopathy, myofibrillar, 9, with early respiratory failure, TTN-related myopathy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Uncertain significance
(Feb 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000332680
53.
GRCh37:
Chr2:179393803
GRCh38:
Chr2:178529076
TTN-AS1, TTNE32991Q, E35559Q, E33918Q, E26494Q, E26619Q, E26686QCardiovascular phenotype, not provided, Myopathy, early-onset, with fatal cardiomyopathy,
TTN-related myopathy, Inborn genetic diseases, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Cardiomyopathy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLimb-girdle muscular dystrophy, type 2J,
not specified, ...see more
Conflicting interpretations of pathogenicity
(Sep 22, 2021)
criteria provided, conflicting interpretationsVCV000192135
54.
GRCh37:
Chr2:179393840
GRCh38:
Chr2:178529113
TTN-AS1, TTNCardiomyopathy, Limb-girdle muscular dystrophy, type 2J, none provided,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, not specified,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
not provided, Myopathy, myofibrillar, 9, with early respiratory failureMyopathy, early-onset, with fatal cardiomyopathy,
...see more
Benign/Likely benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000047711
55.
GRCh37:
Chr2:179393859
GRCh38:
Chr2:178529132
TTN, TTN-AS1I35540T, I32972T, I33899T, I26475T, I26667T, I26600TMyopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Cardiomyopathy, Tibial muscular dystrophy,
Cardiovascular phenotype, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
not specified, not providednone provided,
...see more
Benign/Likely benign
(Apr 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000047710
56.
GRCh37:
Chr2:179393898
GRCh38:
Chr2:178529171
TTN, TTN-AS1E35527V, E32959V, E33886V, E26462V, E26587V, E26654VTibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
not provided, Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure,
not specified
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000047709
57.
GRCh37:
Chr2:179393900
GRCh38:
Chr2:178529173
TTN, TTN-AS1not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
not specified, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 26, 2020)
criteria provided, conflicting interpretationsVCV000047708
58.
GRCh37:
Chr2:179394742
GRCh38:
Chr2:178530015
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Cardiomyopathy, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure, not specified,
Myopathy, early-onset, with fatal cardiomyopathy, none providednot provided,
...see more
Benign/Likely benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000047706
59.
GRCh37:
Chr2:179394776
GRCh38:
Chr2:178530049
TTN, TTN-AS1K32913R, K35481R, K26416R, K26608R, K26541R, K33840RMyopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy, Cardiomyopathy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, not provided
Conflicting interpretations of pathogenicity
(May 3, 2021)
criteria provided, conflicting interpretationsVCV000284002
60.
GRCh37:
Chr2:179394999
GRCh38:
Chr2:178530272
TTN, TTN-AS1R32880Q, R35448Q, R33807Q, R26508Q, R26383Q, R26575QLimb-girdle muscular dystrophy, type 2J, not provided, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 30, 2020)
criteria provided, conflicting interpretationsVCV000191809
61.
GRCh37:
Chr2:179395049
GRCh38:
Chr2:178530322
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, not provided,
Limb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Oct 21, 2020)
criteria provided, conflicting interpretationsVCV000332681
62.
GRCh37:
Chr2:179395067
GRCh38:
Chr2:178530340
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Cardiovascular phenotype, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy, not specified, Dilated cardiomyopathy 1G,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000047704
63.
GRCh37:
Chr2:179395075
GRCh38:
Chr2:178530348
TTN, TTN-AS1V33782F, V35423F, V26358F, V32855F, V26483F, V26550FMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, not specified, Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000203105
64.
GRCh37:
Chr2:179395276
GRCh38:
Chr2:178530549
TTN, TTN-AS1E35356K, E32788K, E26291K, E26416K, E26483K, E33715KMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy,
Tibial muscular dystrophy
Uncertain significance
(Sep 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000332682
65.
GRCh37:
Chr2:179395322
GRCh38:
Chr2:178530595
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, not provided,
Limb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Mar 11, 2021)
criteria provided, conflicting interpretationsVCV000332683
66.
GRCh37:
Chr2:179395445
GRCh38:
Chr2:178530718
TTN-AS1, TTNE35299D, E32731D, E26359D, E26426D, E26234D, E33658DMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332684
67.
GRCh37:
Chr2:179395554
GRCh38:
Chr2:178530827
TTN, TTN-AS1A35263V, A32695V, A33622V, A26390V, A26323V, A26198VMyopathy, early-onset, with fatal cardiomyopathy, not specified, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, not provided,
none provided, Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(Mar 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000047702
68.
GRCh37:
Chr2:179395555
GRCh38:
Chr2:178530828
TTN-AS1, TTNA35263S, A32695S, A33622S, A26323S, A26198S, A26390Snot provided, Myopathy, early-onset, with fatal cardiomyopathy, none provided,
Dilated cardiomyopathy 1G, not specified, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(Mar 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000047701
69.
GRCh37:
Chr2:179395560
GRCh38:
Chr2:178530833
TTN, TTN-AS1P35261L, P32693L, P33620L, P26196L, P26388L, P26321LMyopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, not specified
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000047700
70.
GRCh37:
Chr2:179395570
GRCh38:
Chr2:178530843
TTN, TTN-AS1P35258T, P32690T, P26318T, P33617T, P26385T, P26193TDilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332685
71.
GRCh37:
Chr2:179395573
GRCh38:
Chr2:178530846
TTN-AS1, TTNE35257K, E32689K, E33616K, E26192K, E26317K, E26384KLimb-girdle muscular dystrophy, type 2J, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
none provided, not specified, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Cardiovascular phenotype, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy ...see more
Benign/Likely benign
(Mar 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000047699
72.
GRCh37:
Chr2:179395585
GRCh38:
Chr2:178530858
TTN, TTN-AS1V35253M, V32685M, V33612M, V26188M, V26380M, V26313MLimb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, not provided, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Aug 1, 2020)
criteria provided, conflicting interpretationsVCV000286984
73.
GRCh37:
Chr2:179395587
GRCh38:
Chr2:178530860
TTN, TTN-AS1R33611Q, R35252Q, R32684Q, R26187Q, R26312Q, R26379QDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, not specified, Tibial muscular dystrophy,
not provided
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000203100
74.
GRCh37:
Chr2:179395605
GRCh38:
Chr2:178530878
TTN, TTN-AS1A32678V, A35246V, A26181V, A26306V, A26373V, A33605VDilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy
Uncertain significance
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000894789
75.
GRCh37:
Chr2:179395689
GRCh38:
Chr2:178530962
TTN, TTN-AS1I35218T, I32650T, I33577T, I26153T, I26345T, I26278TTibial muscular dystrophy, Dilated cardiomyopathy 1G, not provided,
Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Jul 16, 2020)
criteria provided, conflicting interpretationsVCV000238696
76.
GRCh37:
Chr2:179395760
GRCh38:
Chr2:178531033
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
Cardiovascular phenotype, Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000047694
77.
GRCh37:
Chr2:179395772
GRCh38:
Chr2:178531045
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Oct 9, 2021)
criteria provided, conflicting interpretationsVCV000137820
78.
GRCh37:
Chr2:179395797
GRCh38:
Chr2:178531070
TTN-AS1, TTNY26242C, Y32614C, Y26117C, Y26309C, Y33541C, Y35182CMyopathy, myofibrillar, 9, with early respiratory failure, Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy,
Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J
Uncertain significance
(Mar 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000893625
79.
GRCh37:
Chr2:179395813
GRCh38:
Chr2:178531086
TTN, TTN-AS1V35177M, V32609M, V33536M, V26237M, V26304M, V26112MMyopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J, Cardiomyopathy,
Cardiovascular phenotype, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
not specified, not provided ...see more
Benign/Likely benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000047693
80.
GRCh37:
Chr2:179395822
GRCh38:
Chr2:178531095
TTN-AS1, TTNR26109C, R26301C, R35174C, R26234C, R32606C, R33533CTibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Limb-girdle muscular dystrophy, type 2J, not provided
Conflicting interpretations of pathogenicity
(Jul 8, 2020)
criteria provided, conflicting interpretationsVCV000894306
81.
GRCh37:
Chr2:179395826-179395828
GRCh38:
Chr2:178531099-178531101
TTN, TTN-AS1S35172del, S26299del, S32604del, S33531del, S26107del, S26232delCardiomyopathy, left ventricular noncompaction, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, not provided, See cases,
Cardiomyopathy, Familial hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Jun 9, 2021)
criteria provided, conflicting interpretationsVCV000180582
82.
GRCh37:
Chr2:179395830
GRCh38:
Chr2:178531103
TTN-AS1, TTNT33530I, T35171I, T32603I, T26231I, T26298I, T26106Inot provided, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(Nov 24, 2020)
criteria provided, conflicting interpretationsVCV000203099
83.
GRCh37:
Chr2:179395852
GRCh38:
Chr2:178531125
TTN, TTN-AS1R32596C, R35164C, R33523C, R26224C, R26099C, R26291CLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, not specified,
not provided, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 8, 2018)
criteria provided, conflicting interpretationsVCV000191811
84.
GRCh37:
Chr2:179395874
GRCh38:
Chr2:178531147
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1G,
Cardiomyopathy, not specified, not provided,
none provided, Limb-girdle muscular dystrophy, type 2JDilated cardiomyopathy 1G,
...see more
Benign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000047691
85.
GRCh37:
Chr2:179395926
GRCh38:
Chr2:178531199
TTN, TTN-AS1T35139I, T32571I, T26074I, T33498I, T26199I, T26266ILimb-girdle muscular dystrophy, type 2J, not specified, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, not provided,
Myopathy, early-onset, with fatal cardiomyopathy
Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000047690
86.
GRCh37:
Chr2:179395936
GRCh38:
Chr2:178531209
TTN, TTN-AS1R32568W, R35136W, R33495W, R26071W, R26263W, R26196WMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
not specified, Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000332686
87.
GRCh37:
Chr2:179395958
GRCh38:
Chr2:178531231
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
Myopathy, early-onset, with fatal cardiomyopathy, not specified, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000047689
88.
GRCh37:
Chr2:179395959
GRCh38:
Chr2:178531232
TTN, TTN-AS1A32560V, A35128V, A33487V, A26063V, A26188V, A26255VMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, not specified, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000332687
89.
GRCh37:
Chr2:179395968
GRCh38:
Chr2:178531241
TTN, TTN-AS1T33484M, T35125M, T32557M, T26185M, T26060M, T26252MLimb-girdle muscular dystrophy, type 2J, not provided, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Conflicting interpretations of pathogenicity
(Oct 16, 2020)
criteria provided, conflicting interpretationsVCV000282416
90.
GRCh37:
Chr2:179396016
GRCh38:
Chr2:178531289
TTN-AS1, TTNL26044S, L35109S, L33468S, L26169S, L26236S, L32541SMyopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000892885
91.
GRCh37:
Chr2:179396085
GRCh38:
Chr2:178531358
TTN, TTN-AS1M35086K, M32518K, M26021K, M26213K, M26146K, M33445KMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000332688
92.
GRCh37:
Chr2:179396114
GRCh38:
Chr2:178531387
TTN-AS1, TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, not specified, Cardiovascular phenotype,
not provided, Myopathy, early-onset, with fatal cardiomyopathy ...see more
Conflicting interpretations of pathogenicity
(Dec 7, 2020)
criteria provided, conflicting interpretationsVCV000047687
93.
GRCh37:
Chr2:179396130
GRCh38:
Chr2:178531403
TTN, TTN-AS1S32503C, S35071C, S33430C, S26198C, S26131C, S26006CMyopathy, myofibrillar, 9, with early respiratory failure, not provided, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
not specified, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J
Conflicting interpretations of pathogenicity
(Oct 13, 2020)
criteria provided, conflicting interpretationsVCV000177968
94.
GRCh37:
Chr2:179396159
GRCh38:
Chr2:178531432
TTN, TTN-AS1Cardiovascular phenotype, not provided, Limb-girdle muscular dystrophy, type 2J,
Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy,
Cardiomyopathy, not specified, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G ...see more
Conflicting interpretations of pathogenicity
(Dec 1, 2020)
criteria provided, conflicting interpretationsVCV000047685
95.
GRCh37:
Chr2:179396162
GRCh38:
Chr2:178531435
TTN, TTN-AS1E35060D, E32492D, E33419D, E26120D, E25995D, E26187DLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Tibial muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1G,
not specified, Myopathy, early-onset, with fatal cardiomyopathy, not provided,
Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000047684
96.
GRCh37:
Chr2:179396215
GRCh38:
Chr2:178531488
TTN, TTN-AS1R35043C, R32475C, R33402C, R25978C, R26103C, R26170CCardiovascular phenotype, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Limb-girdle muscular dystrophy, type 2J, Cardiomyopathy, Tibial muscular dystrophy,
not specified, not provided, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Myopathy, early-onset, with fatal cardiomyopathy ...see more
Conflicting interpretations of pathogenicity
(Mar 15, 2021)
criteria provided, conflicting interpretationsVCV000047683
97.
GRCh37:
Chr2:179396354
GRCh38:
Chr2:178531627
TTN, TTN-AS1Limb-girdle muscular dystrophy, type 2J, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Dilated cardiomyopathy 1G, Cardiovascular phenotype, Dilated cardiomyopathy 1G,
Myopathy, early-onset, with fatal cardiomyopathy, not specified, Myopathy, myofibrillar, 9, with early respiratory failure
Benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000047681
98.
GRCh37:
Chr2:179396363
GRCh38:
Chr2:178531636
TTN, TTN-AS1Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 20, 2020)
criteria provided, conflicting interpretationsVCV000698345
99.
GRCh37:
Chr2:179396406
GRCh38:
Chr2:178531679
TTN, TTN-AS1G32411D, G34979D, G25914D, G26039D, G33338D, G26106DMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Myopathy, early-onset, with fatal cardiomyopathy, Tibial muscular dystrophy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000332689
100.
GRCh37:
Chr2:179396449
GRCh38:
Chr2:178531722
TTN, TTN-AS1V32397L, V34965L, V33324L, V26092L, V26025L, V25900Lnot provided, Limb-girdle muscular dystrophy, type 2J, Myopathy, early-onset, with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Familial hypertrophic cardiomyopathy 9,
Tibial muscular dystrophy, Limb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1G
Uncertain significance
(Mar 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000284089
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