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Items: 1 to 100 of 10005

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:156105053
GRCh38:
Chr1:156135262
LMNAR184C, R215C, R296CCharcot-Marie-Tooth disease type 2, Cardiomyopathy, Congenital muscular dystrophy due to LMNA mutation,
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndromeRestrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, ...see more		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:207958446
GRCh38:
Chr1:207785101
CD46A353V, A323V, A338V, A309V, A324Vnot provided, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome,
Myofibrillar myopathy 6		Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr1:229568338
GRCh38:
Chr1:229432591
ACTA1A140GActin accumulation myopathyPathogenic
(Aug 27, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr1:229568534
Chr1:229568535
GRCh38:
Chr1:229432787
Chr1:229432788
ACTA1, ACTA1H75YCongenital myopathy 2c, severe infantile, autosomal dominantPathogenic
(Jul 1, 2009)		no assertion criteria provided
5.
GRCh37:
Chr1:236920811
GRCh38:
Chr1:236757511
ACTN2L727R, L519RMyopathy, congenital, with structured cores and z-line abnormalitiesLikely pathogenic
(Jun 25, 2020)		criteria provided, single submitter
6.
GRCh37:
Chr2:179390724
GRCh38:
Chr2:178525997
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr2:179390771
GRCh38:
Chr2:178526044
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr2:179390820
GRCh38:
Chr2:178526093
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr2:179390826
GRCh38:
Chr2:178526099
TTN, TTN-AS1Autosomal 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, Hypertrophic cardiomyopathy 9,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy ...see more		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:179390841
GRCh38:
Chr2:178526114
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr2:179391075
GRCh38:
Chr2:178526348
TTN, TTN-AS1not provided, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Benign/Likely benign
(May 23, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:179391103
GRCh38:
Chr2:178526376
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr2:179391106
GRCh38:
Chr2:178526379
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy		Uncertain significance
(Mar 16, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr2:179391116
GRCh38:
Chr2:178526389
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr2:179391152
GRCh38:
Chr2:178526425
TTN, TTN-AS1not provided, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Conflicting interpretations of pathogenicity
(May 25, 2021)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:179391235
GRCh38:
Chr2:178526508
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr2:179391459
GRCh38:
Chr2:178526732
TTN-AS1, TTNEarly-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr2:179391465
GRCh38:
Chr2:178526738
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr2:179391542
GRCh38:
Chr2:178526815
TTN, TTN-AS1Early-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
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr2:179391556
GRCh38:
Chr2:178526829
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr2:179391598
GRCh38:
Chr2:178526871
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
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,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure ...see more		Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:179391609
GRCh38:
Chr2:178526882
TTN-AS1, TTNEarly-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr2:179391639-179391640
GRCh38:
Chr2:178526912-178526913
TTN, TTN-AS1Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive, not provided,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy		Benign/Likely benign
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:179391680
GRCh38:
Chr2:178526953
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr2:179391714
GRCh38:
Chr2:178526987
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr2:179391733
GRCh38:
Chr2:178527006
TTN, TTN-AS1not specified, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Mar 17, 2020)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr2:179391750
GRCh38:
Chr2:178527023
TTN, TTN-AS1R34348*, R35989*, R33421*, R27116*, R26924*, R27049*Myopathy, myofibrillar, 9, with early respiratory failure, 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, Dilated cardiomyopathy 1G		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:179391754
GRCh38:
Chr2:178527027
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Autosomal recessive limb-girdle muscular dystrophy type 2J, not specified, not provided,
Cardiomyopathy, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr2:179391826
GRCh38:
Chr2:178527099
TTN, TTN-AS1K27023fs, K27090fs, K26898fs, K35963fs, K33395fs, K34322fsCardiovascular phenotype, Autosomal recessive titinopathy, Dilated cardiomyopathy 1G,
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, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, not providedAutosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, ...see more		Pathogenic
(Aug 25, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr2:179391846
GRCh38:
Chr2:178527119
TTN, TTN-AS1I26892F, I27017F, I27084F, I33389F, I34316F, I35957FDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9
Uncertain significance
(Jun 8, 2023)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:179391857
GRCh38:
Chr2:178527130
TTN, TTN-AS1L34312R, L35953R, L27013R, L33385R, L26888R, L27080RMyopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
not specified		Uncertain significance
(Jul 6, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr2:179391918
GRCh38:
Chr2:178527191
TTN, TTN-AS1G34292R, G26868R, G26993R, G33365R, G27060R, G35933RDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9
Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:179391925-179391935
GRCh38:
Chr2:178527198-178527208
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9, Early-onset myopathy with fatal cardiomyopathy, not provided
Pathogenic
(Sep 4, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr2:179391932
GRCh38:
Chr2:178527205
TTN, TTN-AS1V35928E, V34287E, V26863E, V26988E, V27055E, V33360Enot provided, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy		Uncertain significance
(Jul 21, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:179391949
GRCh38:
Chr2:178527222
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr2:179391987
GRCh38:
Chr2:178527260
TTN, TTN-AS1E33342K, E35910K, E26970K, E26845K, E27037K, E34269Knot specified, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Oct 13, 2021)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:179391992
GRCh38:
Chr2:178527265
TTN-AS1, TTNI26843T, I26968T, I27035T, I33340T, I34267T, I35908TDilated cardiomyopathy 1G, 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,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9, not provided
Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:179392015
GRCh38:
Chr2:178527288
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G ...see more		Benign/Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr2:179392027
GRCh38:
Chr2:178527300
TTN-AS1, TTNCardiovascular phenotype, not specified, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophyEarly-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
...see more		Benign/Likely benign
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:179392051-179392052
GRCh38:
Chr2:178527324-178527325
TTN, TTN-AS1Tibial 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
41.
GRCh37:
Chr2:179392080
GRCh38:
Chr2:178527353
TTN-AS1, TTNnot provided, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, not specified, Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:179392248
GRCh38:
Chr2:178527521
TTN, TTN-AS1S35869G, S33301G, S34228G, S26804G, S26996G, S26929GCardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not specified, not provided, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr2:179392275
GRCh38:
Chr2:178527548
TTN, TTN-AS1Q26795*, Q35860*, Q33292*, Q26987*, Q34219*, Q26920*Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiovascular phenotype,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J ...see more		Pathogenic/Likely pathogenic
(Mar 10, 2023)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr2:179392277
GRCh38:
Chr2:178527550
TTN, TTN-AS1M35859T, M33291T, M34218T, M26986T, M26794T, M26919TCardiovascular phenotype, not specified, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1GPrimary dilated cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Sep 1, 2023)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr2:179392289
GRCh38:
Chr2:178527562
TTN-AS1, TTNS35855I, S26915I, S26982I, S34214I, S26790I, S33287IDilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(Sep 21, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:179392325
GRCh38:
Chr2:178527598
TTN, TTN-AS1M26778T, M26903T, M26970T, M33275T, M34202T, M35843TEarly-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(May 12, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:179392403
GRCh38:
Chr2:178527676
TTN, TTN-AS1S35817L, S33249L, S34176L, S26752L, S26877L, S26944Lnot provided, Cardiovascular phenotype, Cardiomyopathy,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Oct 17, 2021)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr2:179392456
GRCh38:
Chr2:178527729
TTN, TTN-AS1Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not specified, not provided, Cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy ...see more		Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr2:179392461
GRCh38:
Chr2:178527734
TTN, TTN-AS1P33230S, P35798S, P26925S, P26733S, P26858S, P34157Snot provided, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Hypertrophic cardiomyopathy 9		Uncertain significance
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr2:179392987
GRCh38:
Chr2:178528260
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not specified,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J
Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr2:179393000
GRCh38:
Chr2:178528273
TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
Pathogenic/Likely pathogenic
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr2:179393000
GRCh38:
Chr2:178528273
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Cardiovascular phenotype, not provided, Primary dilated cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J ...see more		Conflicting interpretations of pathogenicity
(Jul 18, 2023)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr2:179393014
GRCh38:
Chr2:178528287
TTN, TTN-AS1Cardiovascular phenotype, 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, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
not specified		Likely benign
(Jul 22, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr2:179393030
GRCh38:
Chr2:178528303
TTN, TTN-AS1C26718F, C26843F, C26910F, C33215F, C34142F, C35783FMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr2:179393039
GRCh38:
Chr2:178528312
TTN, TTN-AS1R34139H, R35780H, R26715H, R33212H, R26840H, R26907HMyopathy, myofibrillar, 9, with early respiratory failure, 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, Dilated cardiomyopathy 1G, not specified
Uncertain significance
(Jul 10, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:179393088
GRCh38:
Chr2:178528361
TTN, TTN-AS1A35764S, A26824S, A33196S, A26699S, A34123S, A26891SDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not specified,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9
Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:179393111
GRCh38:
Chr2:178528384
TTN-AS1, TTNV35756A, V33188A, V34115A, V26883A, V26816A, V26691ACardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
Benign/Likely benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr2:179393297
GRCh38:
Chr2:178528570
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy		Conflicting interpretations of pathogenicity
(Aug 5, 2022)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr2:179393373
GRCh38:
Chr2:178528646
TTN, TTN-AS1P34061L, P35702L, P33134L, P26637L, P26829L, P26762LCardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not providedHypertrophic cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Nov 14, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr2:179393389
GRCh38:
Chr2:178528662
TTN, TTN-AS1E33129Q, E35697Q, E34056Q, E26632Q, E26757Q, E26824QCardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not specified, not provided, 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		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr2:179393396
GRCh38:
Chr2:178528669
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, 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,
not specified		Likely benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:179393398
GRCh38:
Chr2:178528671
TTN, TTN-AS1L35694V, L26821V, L33126V, L26754V, L26629V, L34053Vnot provided, Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure		Conflicting interpretations of pathogenicity
(May 3, 2021)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr2:179393482
GRCh38:
Chr2:178528755
TTN, TTN-AS1Q33098E, Q35666E, Q26726E, Q26793E, Q34025E, Q26601Enot provided, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
Uncertain significance
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr2:179393521
GRCh38:
Chr2:178528794
TTN, TTN-AS1Y35653D, Y33085D, Y26780D, Y34012D, Y26713D, Y26588DDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, not provided, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:179393523
GRCh38:
Chr2:178528796
TTN, TTN-AS1R35652Q, R33084Q, R34011Q, R26587Q, R26779Q, R26712QCardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr2:179393552
GRCh38:
Chr2:178528825
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Cardiovascular phenotype,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr2:179393558
GRCh38:
Chr2:178528831
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr2:179393559
GRCh38:
Chr2:178528832
TTN, TTN-AS1L26700P, L35640P, L26575P, L26767P, L33072P, L33999PTibial muscular dystrophy, Myopathy, 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,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:179393572
GRCh38:
Chr2:178528845
TTN, TTN-AS1V26571M, V26763M, V33068M, V33995M, V26696M, V35636MCardiovascular 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
70.
GRCh37:
Chr2:179393602
GRCh38:
Chr2:178528875
TTN-AS1, TTNL33058V, L35626V, L26561V, L26686V, L26753V, L33985VCardiovascular phenotype, not specified, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Tibial muscular dystrophy		Conflicting interpretations of pathogenicity
(Nov 8, 2019)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr2:179393621
GRCh38:
Chr2:178528894
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
Benign/Likely benign
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr2:179393641
GRCh38:
Chr2:178528914
TTN-AS1, TTNS35613A, S33045A, S33972A, S26673A, S26548A, S26740ACardiovascular 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,
not specified, not providedEarly-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, ...see more		Conflicting interpretations of pathogenicity
(Oct 2, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr2:179393650
GRCh38:
Chr2:178528923
TTN, TTN-AS1K26545E, K26670E, K26737E, K33042E, K33969E, K35610EDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not provided		Uncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:179393658
GRCh38:
Chr2:178528931
TTN, TTN-AS1A33039V, A35607V, A33966V, A26542V, A26667V, A26734VCardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, Early-onset myopathy with fatal cardiomyopathy, not provided,
Cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr2:179393677
GRCh38:
Chr2:178528950
TTN, TTN-AS1E35601K, E33960K, E26661K, E33033K, E26536K, E26728KAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure
Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr2:179393690
GRCh38:
Chr2:178528963
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
Benign/Likely benign
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:179393691
GRCh38:
Chr2:178528964
TTN-AS1, TTNT35596I, T33028I, T33955I, T26656I, T26531I, T26723ICardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Oct 1, 2023)		criteria provided, conflicting interpretations
78.
GRCh37:
Chr2:179393709
GRCh38:
Chr2:178528982
TTN, TTN-AS1H26525R, H26650R, H26717R, H33022R, H33949R, H35590RDilated 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, Myopathy, myofibrillar, 9, with early respiratory failure,
Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy, not provided
Uncertain significance
(Jan 8, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:179393755
GRCh38:
Chr2:178529028
TTN, TTN-AS1E33007K, E35575K, E33934K, E26635K, E26510K, E26702KAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, TTN-related myopathy,
not provided, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
Uncertain significance
(Feb 11, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:179393803
GRCh38:
Chr2:178529076
TTN, TTN-AS1E32991Q, E35559Q, E33918Q, E26494Q, E26619Q, E26686QDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, TTN-related condition,
Cardiovascular phenotype, TTN-related myopathy, Inborn genetic diseases,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2JTibial muscular dystrophy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, ...see more		Conflicting interpretations of pathogenicity
(Jul 6, 2023)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:179393840
GRCh38:
Chr2:178529113
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G ...see more		Benign/Likely benign
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr2:179393849
GRCh38:
Chr2:178529122
TTN, TTN-AS1A26479fs, A26671fs, A32976fs, A33903fs, A35544fs, A26604fsHypertrophic cardiomyopathy 9, Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Primary dilated cardiomyopathy		Pathogenic/Likely pathogenic
(Feb 9, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr2:179393859
GRCh38:
Chr2:178529132
TTN, TTN-AS1I35540T, I32972T, I33899T, I26475T, I26667T, I26600TCardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, not provided, Cardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Dilated cardiomyopathy 1G ...see more		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr2:179393898-179393900
GRCh38:
Chr2:178529171-178529173
TTN, TTN-AS1E26462V, E32959V, E33886V, E35527V, E26587V, E26654VHypertrophic cardiomyopathy 9, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Cardiovascular phenotype, Cardiomyopathy		Conflicting interpretations of pathogenicity
(Apr 12, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr2:179393898
GRCh38:
Chr2:178529171
TTN, TTN-AS1E35527V, E32959V, E33886V, E26462V, E26587V, E26654Vnot specified, not provided, Tibial muscular dystrophy,
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, Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr2:179393900
GRCh38:
Chr2:178529173
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not provided, not specified, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
87.
GRCh37:
Chr2:179393941
GRCh38:
Chr2:178529214
TTN, TTN-AS1K35513E, K32945E, K26448E, K26573E, K33872E, K26640ECardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided		Uncertain significance
(Nov 6, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:179394742
GRCh38:
Chr2:178530015
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Hypertrophic cardiomyopathy 9,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
not specified, not providedCardiomyopathy,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, ...see more		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr2:179394776
GRCh38:
Chr2:178530049
TTN, TTN-AS1K32913R, K35481R, K26416R, K26608R, K26541R, K33840Rnot provided, Cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Cardiovascular phenotype		Conflicting interpretations of pathogenicity
(May 3, 2021)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr2:179394815
GRCh38:
Chr2:178530088
TTN, TTN-AS1L35468H, L32900H, L33827H, L26403H, L26528H, L26595HDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy		Uncertain significance
(Jun 28, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr2:179394830
GRCh38:
Chr2:178530103
TTN, TTN-AS1G35463A, G26398A, G33822A, G26590A, G32895A, G26523AAutosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Hypertrophic cardiomyopathy 9,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Myopathy, myofibrillar, 9, with early respiratory failure,
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:179394999
GRCh38:
Chr2:178530272
TTN, TTN-AS1R32880Q, R35448Q, R33807Q, R26508Q, R26383Q, R26575QDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G		Conflicting interpretations of pathogenicity
(Aug 30, 2021)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:179395049
GRCh38:
Chr2:178530322
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
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		Conflicting interpretations of pathogenicity
(Apr 29, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr2:179395067
GRCh38:
Chr2:178530340
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G
Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:179395075
GRCh38:
Chr2:178530348
TTN, TTN-AS1V33782F, V35423F, V26358F, V32855F, V26483F, V26550Fnot specified, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, not provided, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G		Uncertain significance
(Feb 24, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:179395084
GRCh38:
Chr2:178530357
TTN, TTN-AS1P35420S, P26547S, P33779S, P26355S, P32852S, P26480SAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated 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,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy		Uncertain significance
(Jan 4, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:179395188
GRCh38:
Chr2:178530461
LOC129935182, TTN, TTN-AS1K35385T, K26320T, K33744T, K32817T, K26445T, K26512TDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy		Uncertain significance
(May 10, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:179395276
GRCh38:
Chr2:178530549
LOC129935182, TTN, TTN-AS1E35356K, E32788K, E26291K, E26416K, E26483K, E33715KDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy		Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:179395293
GRCh38:
Chr2:178530566
LOC129935182, TTN, TTN-AS1T26410fs, T33709fs, T26285fs, T26477fs, T32782fs, T35350fsDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
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,
not provided		Likely pathogenic
(Jul 8, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr2:179395322
GRCh38:
Chr2:178530595
LOC129935182, TTN, TTN-AS1Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, not provided,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy		Conflicting interpretations of pathogenicity
(Sep 2, 2022)		criteria provided, conflicting interpretations
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