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Items: 1 to 100 of 1397

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:179592896
GRCh38:
Chr2:178728169
TTNT5308I, T6235I, T6552IDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr2:179536701
GRCh38:
Chr2:178671974
TTNK10441E, K11368E, K11742EDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr2:179545869
GRCh38:
Chr2:178681142
TTNE10776K, E11093K, E9849KDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:179430565
GRCh38:
Chr2:178565838
TTN, TTN-AS1V17700A, V17825A, V17892A, V24197A, V25124A, V26765ADilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 6, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:179518601
GRCh38:
Chr2:178653874
TTNA12830TDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 1, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:179571316
GRCh38:
Chr2:178706589
TTNT8518I, T9445I, T9762IDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:179495632
GRCh38:
Chr2:178630905
TTNE12117K, E13044K, E14685K, E5620K, E5745K, E5812KDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:179418702
GRCh38:
Chr2:178553975
TTN, TTN-AS1N20647K, N20772K, N20839K, N27144K, N28071K, N29712KDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Aug 8, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:179470281
GRCh38:
Chr2:178605554
TTN, TTN-AS1K15346T, K16273T, K17914T, K8849T, K8974T, K9041TDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Aug 10, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:179592306
GRCh38:
Chr2:178727579
LOC126806429, TTNDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:179578732
GRCh38:
Chr2:178714005
TTNS7641A, S8568A, S8885ADilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:179664593
GRCh38:
Chr2:178799866
TTNT210ADilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:179473329
GRCh38:
Chr2:178608602
TTN, TTN-AS1Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Apr 22, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:179451375-179451376
GRCh38:
Chr2:178586648-178586649
TTN, TTN-AS1Y12353*, Y12478*, Y12545*, Y18850*, Y19777*, Y21418*Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure
Pathogenic
(Mar 30, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr2:179485022
GRCh38:
Chr2:178620295
TTNV12841A, V13768A, V15409A, V6344A, V6469A, V6536AMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(May 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:179439315
GRCh38:
Chr2:178574588
TTN, TTN-AS1H14783Q, H14908Q, H14975Q, H21280Q, H22207Q, H23848QHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy
Uncertain significance
(Feb 5, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr2:179413310
GRCh38:
Chr2:178548583
TTN, TTN-AS1D21950H, D22075H, D22142H, D28447H, D29374H, D31015HTibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
Uncertain significance
(Feb 5, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr2:179413282
GRCh38:
Chr2:178548555
TTN-AS1, TTNT21959I, T22084I, T22151I, T28456I, T29383I, T31024IMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Nov 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:179547517
GRCh38:
Chr2:178682790
TTNE10684K, E11001K, E9757KAutosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy
Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:179463358
GRCh38:
Chr2:178598631
TTN, TTN-AS1K10056Q, K10123Q, K16428Q, K17355Q, K18996Q, K9931QHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy
Uncertain significance
(Nov 9, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:179543138
GRCh38:
Chr2:178678411
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy
Uncertain significance
(Nov 8, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:179635229
GRCh38:
Chr2:178770502
TTNL2718V, L2764VTibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
Uncertain significance
(Oct 16, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:179472915-179472916
GRCh38:
Chr2:178608188-178608189
LOC126806425, TTN, TTN-AS1H14997fs, H15924fs, H17565fs, H8500fs, H8625fs, H8692fsMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely pathogenic
(Sep 12, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:179615979
GRCh38:
Chr2:178751252
TTNK3716NAutosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy
Uncertain significance
(Nov 8, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:179402563
GRCh38:
Chr2:178537836
TTN, TTN-AS1I24059T, I24184T, I24251T, I30556T, I31483T, I33124TMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Nov 7, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:179423372
GRCh38:
Chr2:178558645
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Mar 5, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr2:179418791
GRCh38:
Chr2:178554064
TTN, TTN-AS1V20618I, V20743I, V20810I, V27115I, V28042I, V29683Inot provided, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
Uncertain significance
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:179449462
GRCh38:
Chr2:178584735
TTN, TTN-AS1A12571P, A12696P, A12763P, A19068P, A19995P, A21636PDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Dec 8, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr2:179437871
GRCh38:
Chr2:178573144
TTN, TTN-AS1P15265S, P15390S, P15457S, P21762S, P22689S, P24330SDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Oct 5, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr2:179585160
GRCh38:
Chr2:178720433
TTNT6533A, T7460A, T7777ADilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr2:179393906
GRCh38:
Chr2:178529179
TTN, TTN-AS1K26459N, K26584N, K26651N, K32956N, K33883N, K35524NDilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr2:179596617
GRCh38:
Chr2:178731890
LOC126806431, TTNG4418D, G5345D, G5662DHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1GUncertain significance
(Jul 30, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr2:179449171-179449172
GRCh38:
Chr2:178584444-178584445
TTN, TTN-AS1N12637fs, N12762fs, N12829fs, N19134fs, N20061fs, N21702fsHypertrophic cardiomyopathy 9Uncertain significance
(Dec 15, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr2:179537139
GRCh38:
Chr2:178672412
TTNA10341V, A11268V, A11642VMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
not specified
Uncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:179463253-179463255
GRCh38:
Chr2:178598526-178598528
TTN, TTN-AS1E10090del, E10157del, E16462del, E17389del, E19030del, E9965delnot provided, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Cardiovascular phenotype
Uncertain significance
(Jan 11, 2023)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr2:179586618
GRCh38:
Chr2:178721891
TTNN6347S, N7274S, N7591SHypertrophic cardiomyopathy 9, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not provided
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:179457902
GRCh38:
Chr2:178593175
TTN, TTN-AS1I10613T, I10738T, I10805T, I17110T, I18037T, I19678Tnot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 9,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:179407647
GRCh38:
Chr2:178542920
LOC126806421, TTN, TTN-AS1P23247S, P23372S, P23439S, P29744S, P30671S, P32312Snot provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 9,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:179530473
GRCh38:
Chr2:178665746
TTNM11974TSee cases, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Oct 13, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:179393798
GRCh38:
Chr2:178529071
TTN, TTN-AS1K26495N, K26620N, K26687N, K32992N, K33919N, K35560NHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Jul 17, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr2:179433674
GRCh38:
Chr2:178568947
TTN, TTN-AS1K16664*, K16789*, K16856*, K23161*, K24088*, K25729*not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Likely pathogenic
(Nov 20, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:179526697-179526698
GRCh38:
Chr2:178661970-178661971
TTNP12394fsAutosomal recessive limb-girdle muscular dystrophy type 2J, not provided, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
Uncertain significance
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:179611475
GRCh38:
Chr2:178746748
TTNR5218*not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Mar 1, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:179412826
GRCh38:
Chr2:178548099
TTN-AS1, TTNL22111P, L22236P, L22303P, L28608P, L29535P, L31176Pnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Feb 17, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:179529607-179529610
GRCh38:
Chr2:178664880-178664883
TTNS12030fsnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Conflicting interpretations of pathogenicity
(May 20, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr2:179613376-179613379
GRCh38:
Chr2:178748649-178748652
TTNI4583fsnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Nov 18, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:179457606
GRCh38:
Chr2:178592879
TTN, TTN-AS1L10682R, L10807R, L10874R, L17179R, L18106R, L19747Rnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr2:179422738
GRCh38:
Chr2:178558011
TTN-AS1, TTNY20050H, Y20175H, Y20242H, Y26547H, Y27474H, Y29115Hnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Oct 21, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:179659159-179659164
GRCh38:
Chr2:178794432-178794437
TTNnot provided, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9
Uncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:179528341
GRCh38:
Chr2:178663614
TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9
Likely benign
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:179444129
GRCh38:
Chr2:178579402
LOC126806423, TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9
Benign/Likely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:179416007
GRCh38:
Chr2:178551280
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:179407064
GRCh38:
Chr2:178542337
TTN-AS1, TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9
Likely benign
(Mar 21, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:179448344
GRCh38:
Chr2:178583617
TTN-AS1, TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:179456250
GRCh38:
Chr2:178591523
TTN, TTN-AS1Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(May 21, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:179426226
GRCh38:
Chr2:178561499
TTN-AS1, TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:179513965
GRCh38:
Chr2:178649238
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:179641867
GRCh38:
Chr2:178777140
LOC101927055, TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr2:179518250
GRCh38:
Chr2:178653523
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:179446371
GRCh38:
Chr2:178581644
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Likely benign
(Nov 29, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr2:179537449
GRCh38:
Chr2:178672722
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign/Likely benign
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:179400587
GRCh38:
Chr2:178535860
TTN-AS1, TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign/Likely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr2:179567200
GRCh38:
Chr2:178702473
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:179537446
GRCh38:
Chr2:178672719
TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Likely benign
(Aug 23, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:179528838
GRCh38:
Chr2:178664111
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:179582497
GRCh38:
Chr2:178717770
TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Mar 12, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr2:179392051-179392052
GRCh38:
Chr2:178527324-178527325
TTN, TTN-AS1Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign/Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:179642597
GRCh38:
Chr2:178777870
LOC101927055, TTNHypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:179529424
GRCh38:
Chr2:178664697
TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Likely benign
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr2:179401648-179401649
GRCh38:
Chr2:178536921-178536922
LOC126806420, TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:179430479
GRCh38:
Chr2:178565752
TTN, TTN-AS1Q26794*, Q17921*, Q24226*, Q17854*, Q17729*, Q25153*Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Pathogenic/Likely pathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:179586664-179586665
GRCh38:
Chr2:178721937-178721938
TTNK6332fs, K7259fs, K7576fsDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:179586600-179586601
GRCh38:
Chr2:178721873-178721874
TTNM6353fs, M7280fs, M7597fsDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jan 16, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:179659131
GRCh38:
Chr2:178794404
TTNE465*Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:179455996-179455997
GRCh38:
Chr2:178591269-178591270
TTN, TTN-AS1T11212fs, T18511fs, T20152fs, T11087fs, T11279fs, T17584fsMyopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype
Likely pathogenic
(Dec 30, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:179396704
GRCh38:
Chr2:178531977
TTN-AS1, TTNE25815Q, E25940Q, E26007Q, E32312Q, E33239Q, E34880QDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:179656926
GRCh38:
Chr2:178792199
TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jul 28, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr2:179400292
GRCh38:
Chr2:178535565
TTN, TTN-AS1L24619V, L24744V, L31116V, L33684V, L24811V, L32043VAutosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
Uncertain significance
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:179396157
GRCh38:
Chr2:178531430
TTN-AS1, TTNY32494S, Y26122S, Y26189S, Y35062S, Y33421S, Y25997SAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy
Uncertain significance
(Nov 17, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:179494963
GRCh38:
Chr2:178630236
TTNAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(Feb 7, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:179408194
GRCh38:
Chr2:178543467
LOC126806421, TTN, TTN-AS1L23104P, L29601P, L30528P, L23229P, L23296P, L32169PDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:179544784
GRCh38:
Chr2:178680057
TTNAutosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided
Uncertain significance
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:179603863
GRCh38:
Chr2:178739136
TTNAutosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
Uncertain significance
(Mar 14, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr2:179393572
GRCh38:
Chr2:178528845
TTN-AS1, TTNV26571M, V26763M, V33068M, V33995M, V26696M, V35636MAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(May 14, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr2:179395390
GRCh38:
Chr2:178530663
TTN-AS1, TTNT26378S, T35318S, T26253S, T32750S, T26445S, T33677SAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy
Uncertain significance
(Feb 25, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr2:179397280
GRCh38:
Chr2:178532553
TTN-AS1, TTNE25748Q, E33047Q, E25623Q, E32120Q, E34688Q, E25815QAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
Uncertain significance
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:179397184
GRCh38:
Chr2:178532457
TTN-AS1, TTNE25780K, E25847K, E33079K, E25655K, E32152K, E34720KDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:179399769
GRCh38:
Chr2:178535042
TTN-AS1, TTNV24918D, V24793D, V24985D, V31290D, V32217D, V33858DDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:179595834
GRCh38:
Chr2:178731107
LOC126806431, TTNT4609I, T5536I, T5853IAutosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
not specified
Uncertain significance
(Jan 10, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr2:179401101
GRCh38:
Chr2:178536374
TTN, TTN-AS1I24393T, I24518T, I24585T, I30890T, I31817T, I33458Tnot provided, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Jan 12, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:179518566
GRCh38:
Chr2:178653839
TTNK12841fsHypertrophic cardiomyopathy 9Uncertain significance
(May 13, 2020)
criteria provided, single submitter
92.
GRCh37:
Chr2:179590657
GRCh38:
Chr2:178725930
TTNK5554*, K6481*, K6798*Hypertrophic cardiomyopathy 9Likely pathogenic
(Jul 15, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr2:179436487
GRCh38:
Chr2:178571760
TTN, TTN-AS1T15726I, T15851I, T15918I, T22223I, T23150I, T24791Inot provided, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G
Uncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:179631161
GRCh38:
Chr2:178766434
TTNE3171A, E3217ADilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiovascular phenotype, Cardiomyopathy
Uncertain significance
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:179411444
GRCh38:
Chr2:178546717
TTN, TTN-AS1V22506M, V22631M, V22698M, V29003M, V29930M, V31571MDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiomyopathy
Uncertain significance
(Sep 14, 2021)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:179451913
GRCh38:
Chr2:178587186
TTN, TTN-AS1A12277G, A12402G, A12469G, A18774G, A19701G, A21342GDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiomyopathy
Uncertain significance
(Jul 28, 2021)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:179536900
GRCh38:
Chr2:178672173
TTNDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiomyopathy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Aug 25, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:179540666
GRCh38:
Chr2:178675939
TTNE10206Q, E11133Q, E11479QDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy, not provided
Uncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:179617880
GRCh38:
Chr2:178753153
TTNI3398T, I3444T, I3523T, I3590T, I3761TDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9
Conflicting interpretations of pathogenicity
(Oct 20, 2021)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr2:179605976
GRCh38:
Chr2:178741249
TTNT3632I, T3678I, T3757I, T3824I, T3995IAutosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure,
not provided
Uncertain significance
(Sep 16, 2021)
criteria provided, multiple submitters, no conflicts
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