| - GRCh37:
- Chr2:179610675
- GRCh38:
- Chr2:178745948
| TTN | | Hypertrophic cardiomyopathy 9 | Likely pathogenic
(Mar 19, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr2:179483332
- GRCh38:
- Chr2:178618605
| TTN, TTN-AS1 | F13081V, F14008V, F15649V, F6584V, F6709V, F6776V | Hypertrophic cardiomyopathy 9 | Uncertain significance
(Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179592896
- GRCh38:
- Chr2:178728169
| TTN | T5308I, T6235I, T6552I | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179536701
- GRCh38:
- Chr2:178671974
| TTN | K10441E, K11368E, K11742E | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179545869
- GRCh38:
- Chr2:178681142
| TTN | E10776K, E11093K, E9849K | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179430565
- GRCh38:
- Chr2:178565838
| TTN, TTN-AS1 | V17700A, V17825A, V17892A, V24197A, V25124A, V26765A | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179518601
- GRCh38:
- Chr2:178653874
| TTN | A12830T | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179571316
- GRCh38:
- Chr2:178706589
| TTN | T8518I, T9445I, T9762I | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179495632
- GRCh38:
- Chr2:178630905
| TTN | E12117K, E13044K, E14685K, E5620K, E5745K, E5812K | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179418702
- GRCh38:
- Chr2:178553975
| TTN, TTN-AS1 | N20647K, N20772K, N20839K, N27144K, N28071K, N29712K | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179470281
- GRCh38:
- Chr2:178605554
| TTN, TTN-AS1 | K15346T, K16273T, K17914T, K8849T, K8974T, K9041T | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179592306
- GRCh38:
- Chr2:178727579
| LOC126806429, TTN | | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179578732
- GRCh38:
- Chr2:178714005
| TTN | S7641A, S8568A, S8885A | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179664593
- GRCh38:
- Chr2:178799866
| TTN | T210A | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179473329
- GRCh38:
- Chr2:178608602
| TTN, TTN-AS1 | | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179451375-179451376
- GRCh38:
- Chr2:178586648-178586649
| TTN, TTN-AS1 | Y12353*, Y12478*, Y12545*, Y18850*, Y19777*, Y21418* | 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
| Pathogenic
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179485022
- GRCh38:
- Chr2:178620295
| TTN | V12841A, V13768A, V15409A, V6344A, V6469A, V6536A | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
| Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179439315
- GRCh38:
- Chr2:178574588
| TTN, TTN-AS1 | H14783Q, H14908Q, H14975Q, H21280Q, H22207Q, H23848Q | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9
| Uncertain significance
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179413310
- GRCh38:
- Chr2:178548583
| TTN, TTN-AS1 | D21950H, D22075H, D22142H, D28447H, D29374H, D31015H | Dilated cardiomyopathy 1G, 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
| Uncertain significance
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179413282
- GRCh38:
- Chr2:178548555
| TTN, TTN-AS1 | T21959I, T22084I, T22151I, T28456I, T29383I, T31024I | Dilated cardiomyopathy 1G, 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
| Uncertain significance
(Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179547517
- GRCh38:
- Chr2:178682790
| TTN | E10684K, E11001K, E9757K | Dilated cardiomyopathy 1G, 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
| Uncertain significance
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179463358
- GRCh38:
- Chr2:178598631
| TTN, TTN-AS1 | K10056Q, K10123Q, K16428Q, K17355Q, K18996Q, K9931Q | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
| Uncertain significance
(Nov 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179543138
- GRCh38:
- Chr2:178678411
| TTN | | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
| Uncertain significance
(Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179635229
- GRCh38:
- Chr2:178770502
| TTN | L2718V, L2764V | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
| Uncertain significance
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179472915-179472916
- GRCh38:
- Chr2:178608188-178608189
| LOC126806425, TTN, TTN-AS1 | H14997fs, H15924fs, H17565fs, H8500fs, H8625fs, H8692fs | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
| Likely pathogenic
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179615979
- GRCh38:
- Chr2:178751252
| TTN | K3716N | Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G,
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 |
| - GRCh37:
- Chr2:179402563
- GRCh38:
- Chr2:178537836
| TTN, TTN-AS1 | I24059T, I24184T, I24251T, I30556T, I31483T, I33124T | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
| Uncertain significance
(Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179423372
- GRCh38:
- Chr2:178558645
| TTN, TTN-AS1 | | Dilated cardiomyopathy 1G, 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
| Uncertain significance
(Mar 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179418791
- GRCh38:
- Chr2:178554064
| TTN, TTN-AS1 | V20618I, V20743I, V20810I, V27115I, V28042I, V29683I | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, not provided
| Uncertain significance
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179449462
- GRCh38:
- Chr2:178584735
| TTN, TTN-AS1 | A12571P, A12696P, A12763P, A19068P, A19995P, A21636P | Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Dec 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179437871
- GRCh38:
- Chr2:178573144
| TTN, TTN-AS1 | P15265S, P15390S, P15457S, P21762S, P22689S, P24330S | Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179585160
- GRCh38:
- Chr2:178720433
| TTN | T6533A, T7460A, T7777A | Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179393906
- GRCh38:
- Chr2:178529179
| TTN, TTN-AS1 | K26459N, K26584N, K26651N, K32956N, K33883N, K35524N | Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179596617
- GRCh38:
- Chr2:178731890
| LOC126806431, TTN | G4418D, G5345D, G5662D | Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G | Uncertain significance
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179449171-179449172
- GRCh38:
- Chr2:178584444-178584445
| TTN, TTN-AS1 | N12637fs, N12762fs, N12829fs, N19134fs, N20061fs, N21702fs | Hypertrophic cardiomyopathy 9 | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179537139
- GRCh38:
- Chr2:178672412
| TTN | A10341V, A11268V, A11642V | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not specified | Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179463253-179463255
- GRCh38:
- Chr2:178598526-178598528
| TTN, TTN-AS1 | E10090del, E10157del, E16462del, E17389del, E19030del, E9965del | not provided, Cardiovascular phenotype, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Jan 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179586618
- GRCh38:
- Chr2:178721891
| TTN | N6347S, N7274S, N7591S | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179457902
- GRCh38:
- Chr2:178593175
| TTN, TTN-AS1 | I10613T, I10738T, I10805T, I17110T, I18037T, I19678T | Cardiovascular phenotype, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy, not provided | Uncertain significance
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179407647
- GRCh38:
- Chr2:178542920
| LOC126806421, TTN, TTN-AS1 | P23247S, P23372S, P23439S, P29744S, P30671S, P32312S | Cardiovascular phenotype, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy, not provided | Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179530473
- GRCh38:
- Chr2:178665746
| TTN | M11974T | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
See cases | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179393798
- GRCh38:
- Chr2:178529071
| TTN, TTN-AS1 | K26495N, K26620N, K26687N, K32992N, K33919N, K35560N | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G | Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179433674
- GRCh38:
- Chr2:178568947
| TTN, TTN-AS1 | K16664*, K16789*, K16856*, K23161*, K24088*, K25729* | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Likely pathogenic
(Nov 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179526697-179526698
- GRCh38:
- Chr2:178661970-178661971
| TTN | P12394fs | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J | Uncertain significance
(May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179611475
- GRCh38:
- Chr2:178746748
| TTN | R5218* | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179412826
- GRCh38:
- Chr2:178548099
| TTN, TTN-AS1 | L22111P, L22236P, L22303P, L28608P, L29535P, L31176P | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179529607-179529610
- GRCh38:
- Chr2:178664880-178664883
| TTN | S12030fs | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Conflicting interpretations of pathogenicity
(May 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179613376-179613379
- GRCh38:
- Chr2:178748649-178748652
| TTN | I4583fs | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Nov 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179457606
- GRCh38:
- Chr2:178592879
| TTN, TTN-AS1 | L10682R, L10807R, L10874R, L17179R, L18106R, L19747R | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179422738
- GRCh38:
- Chr2:178558011
| TTN, TTN-AS1 | Y20050H, Y20175H, Y20242H, Y26547H, Y27474H, Y29115H | not provided, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179659159-179659164
- GRCh38:
- Chr2:178794432-178794437
| TTN | | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179528341
- GRCh38:
- Chr2:178663614
| TTN | | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy | Likely benign
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179444129
- GRCh38:
- Chr2:178579402
| LOC126806423, TTN, TTN-AS1 | | 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, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Benign/Likely benign
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179416007
- GRCh38:
- Chr2:178551280
| TTN, TTN-AS1 | | 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, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179407064
- GRCh38:
- Chr2:178542337
| TTN, TTN-AS1 | | 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, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Likely benign
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179448344
- GRCh38:
- Chr2:178583617
| TTN, TTN-AS1 | | 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, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179456250
- GRCh38:
- Chr2:178591523
| TTN, TTN-AS1 | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure | Likely benign
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179426226
- GRCh38:
- Chr2:178561499
| TTN, TTN-AS1 | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure | Likely benign
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179513965
- GRCh38:
- Chr2:178649238
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure | Likely benign
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179641867
- GRCh38:
- Chr2:178777140
| LOC101927055, TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy | Likely benign
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179518250
- GRCh38:
- Chr2:178653523
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy | Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179446371
- GRCh38:
- Chr2:178581644
| TTN, TTN-AS1 | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Likely benign
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179537449
- GRCh38:
- Chr2:178672722
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure | Benign/Likely benign
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179400587
- GRCh38:
- Chr2:178535860
| TTN, TTN-AS1 | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179567200
- GRCh38:
- Chr2:178702473
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179537446
- GRCh38:
- Chr2:178672719
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, 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 |
| - GRCh37:
- Chr2:179528838
- GRCh38:
- Chr2:178664111
| TTN | | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179582497
- GRCh38:
- Chr2:178717770
| TTN | | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Likely benign
(Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179392051-179392052
- GRCh38:
- Chr2:178527324-178527325
| TTN, TTN-AS1 | | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179642597
- GRCh38:
- Chr2:178777870
| LOC101927055, TTN | | Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179529424
- GRCh38:
- Chr2:178664697
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy | Likely benign
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179401648-179401649
- GRCh38:
- Chr2:178536921-178536922
| TTN-AS1, LOC126806420, TTN | | Dilated 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,
Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9 | Likely benign
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179430479
- GRCh38:
- Chr2:178565752
| TTN, TTN-AS1 | Q26794*, Q17921*, Q24226*, Q17854*, Q17729*, Q25153* | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
| Pathogenic/Likely pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179586664-179586665
- GRCh38:
- Chr2:178721937-178721938
| TTN | K6332fs, K7259fs, K7576fs | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179586600-179586601
- GRCh38:
- Chr2:178721873-178721874
| TTN | M6353fs, M7280fs, M7597fs | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure | Uncertain significance
(Jan 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179659131
- GRCh38:
- Chr2:178794404
| TTN | E465* | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
| Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179455996-179455997
- GRCh38:
- Chr2:178591269-178591270
| TTN, TTN-AS1 | T11212fs, T18511fs, T20152fs, T11087fs, T11279fs, T17584fs | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
| Likely pathogenic
(Dec 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179396704
- GRCh38:
- Chr2:178531977
| TTN, TTN-AS1 | E25815Q, E25940Q, E26007Q, E32312Q, E33239Q, E34880Q | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Oct 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179656926
- GRCh38:
- Chr2:178792199
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Jul 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179400292
- GRCh38:
- Chr2:178535565
| TTN, TTN-AS1 | L24619V, L24744V, L31116V, L33684V, L24811V, L32043V | Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Uncertain significance
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179396157
- GRCh38:
- Chr2:178531430
| TTN, TTN-AS1 | Y32494S, Y26122S, Y26189S, Y35062S, Y33421S, Y25997S | Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Uncertain significance
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179494963
- GRCh38:
- Chr2:178630236
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Cardiovascular phenotype
| Uncertain significance
(Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179408194
- GRCh38:
- Chr2:178543467
| LOC126806421, TTN, TTN-AS1 | L23104P, L29601P, L30528P, L23229P, L23296P, L32169P | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179544784
- GRCh38:
- Chr2:178680057
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
| Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179603863
- GRCh38:
- Chr2:178739136
| TTN | | Dilated 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 | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179393572
- GRCh38:
- Chr2:178528845
| TTN, TTN-AS1 | V26571M, V26763M, V33068M, V33995M, V26696M, V35636M | Cardiovascular phenotype, Dilated 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
| Uncertain significance
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179395390
- GRCh38:
- Chr2:178530663
| TTN, TTN-AS1 | T26378S, T35318S, T26253S, T32750S, T26445S, T33677S | Dilated 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 | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179397280
- GRCh38:
- Chr2:178532553
| TTN, TTN-AS1 | E25748Q, E33047Q, E25623Q, E32120Q, E34688Q, E25815Q | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9, Early-onset myopathy with fatal cardiomyopathy
| Uncertain significance
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179397184
- GRCh38:
- Chr2:178532457
| TTN, TTN-AS1 | E25780K, E25847K, E33079K, E25655K, E32152K, E34720K | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179399769
- GRCh38:
- Chr2:178535042
| TTN, TTN-AS1 | V24918D, V24793D, V24985D, V31290D, V32217D, V33858D | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179595834
- GRCh38:
- Chr2:178731107
| LOC126806431, TTN | T4609I, T5536I, T5853I | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9,
not specified | Uncertain significance
(Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179401101
- GRCh38:
- Chr2:178536374
| TTN-AS1, TTN | I24393T, I24518T, I24585T, I30890T, I31817T, I33458T | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9,
not provided | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179518566
- GRCh38:
- Chr2:178653839
| TTN | K12841fs | Hypertrophic cardiomyopathy 9 | Uncertain significance
(May 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179590657
- GRCh38:
- Chr2:178725930
| TTN | K5554*, K6481*, K6798* | Hypertrophic cardiomyopathy 9 | Likely pathogenic
(Jul 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179436487
- GRCh38:
- Chr2:178571760
| TTN, TTN-AS1 | T15726I, T15851I, T15918I, T22223I, T23150I, T24791I | Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
not provided | Uncertain significance
(Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179631161
- GRCh38:
- Chr2:178766434
| TTN | E3171A, E3217A | Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9 | Uncertain significance
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179411444
- GRCh38:
- Chr2:178546717
| TTN, TTN-AS1 | V22506M, V22631M, V22698M, V29003M, V29930M, V31571M | Cardiomyopathy, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9 | Uncertain significance
(Sep 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179451913
- GRCh38:
- Chr2:178587186
| TTN, TTN-AS1 | A12277G, A12402G, A12469G, A18774G, A19701G, A21342G | Cardiomyopathy, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9 | Uncertain significance
(Jul 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179536900
- GRCh38:
- Chr2:178672173
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiomyopathy,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9
| Likely benign
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179540666
- GRCh38:
- Chr2:178675939
| TTN | E10206Q, E11133Q, E11479Q | Early-onset myopathy with fatal cardiomyopathy, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9
| Uncertain significance
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |