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Links from MedGen

Items: 63

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr19:55667991
GRCh38:
Chr19:55156623
TNNI3S44ACardiomyopathy, familial restrictive, 1Pathogenic
(May 4, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr7:128483566
GRCh38:
Chr7:128843512
FLNCR916WDistal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5,
Dilated Cardiomyopathy, Dominant		Uncertain significance
(Feb 27, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr19:55667631
GRCh38:
Chr19:55156263
TNNI3R74CDilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiomyopathy, Cardiovascular phenotype,
not provided, Hypertrophic cardiomyopathy		Uncertain significance
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:55663215
GRCh38:
Chr19:55151847
TNNI3K207RHypertrophic cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF		Uncertain significance
(Aug 30, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr19:55665481
GRCh38:
Chr19:55154113
TNNI3Q156EFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
6.
GRCh37:
Chr19:55673190
GRCh38:
Chr19:55161822
DNAAF3, DNAAF3-AS1, TNNI3R108S, R162S, R209S, R230SCiliary dyskinesia, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1		Uncertain significance
(Feb 2, 2018)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr19:55672066
GRCh38:
Chr19:55160698
DNAAF3, DNAAF3-AS1, TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 2A		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr19:55668422
GRCh38:
Chr19:55157054
TNNI3A35DFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr19:55663158
GRCh38:
Chr19:55151790
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
10.
GRCh37:
Chr19:55669002
GRCh38:
Chr19:55157634
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7		Uncertain significance
(Aug 18, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr19:55668434
GRCh38:
Chr19:55157066
TNNI3T31MCardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF		Uncertain significance
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr19:55663208
GRCh38:
Chr19:55151840
TNNI3E209DCardiomyopathy, familial restrictive, 1Uncertain significanceno assertion criteria provided
13.
GRCh37:
Chr19:55668422
GRCh38:
Chr19:55157054
TNNI3A35VCardiomyopathy, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 7, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr19:55668006-55668007
GRCh38:
Chr19:55156638-55156639
TNNI3S39fsHypertrophic cardiomyopathy, not provided, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr19:55665590
GRCh38:
Chr19:55154222
TNNI3Hypertrophic cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided
Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr19:55668416
GRCh38:
Chr19:55157048
TNNI3not provided, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7		Uncertain significance
(Sep 9, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:55666207
GRCh38:
Chr19:55154839
TNNI3not specified, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiomyopathy,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Apr 17, 2023)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr19:55663296
GRCh38:
Chr19:55151928
TNNI3Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr11:111779690
GRCh38:
Chr11:111908966
CRYABD109G, D42GDilated cardiomyopathy 1IILikely pathogenic
(Aug 27, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr19:55665568
GRCh38:
Chr19:55154200
TNNI3D127YCardiomyopathy, familial restrictive, 1Likely pathogenic
(May 1, 2016)		no assertion criteria provided
21.
GRCh37:
Chr19:55667630
GRCh38:
Chr19:55156262
TNNI3R74Pnot provided, Hypertrophic cardiomyopathy, Cardiovascular phenotype,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr19:55670808
GRCh38:
Chr19:55159440
DNAAF3, DNAAF3-AS1, TNNI3Ciliary dyskinesia, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
not provided, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 2A		Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr19:55668027
GRCh38:
Chr19:55156659
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, not specified,
Cardiomyopathy		Conflicting interpretations of pathogenicity
(Jun 1, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr19:55663167
GRCh38:
Chr19:55151799
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr19:55665508
GRCh38:
Chr19:55154140
TNNI3V147LCardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:55669004
GRCh38:
Chr19:55157636
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A
Conflicting interpretations of pathogenicity
(Jul 1, 2023)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr19:55669055
GRCh38:
Chr19:55157687
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not provided, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr19:55666125
GRCh38:
Chr19:55154757
TNNI3T119ICardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy, not provided,
Cardiovascular phenotype		Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:55666189
GRCh38:
Chr19:55154821
TNNI3R98*Cardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not provided,
Hypertrophic cardiomyopathy, Cardiomyopathy		Uncertain significance
(May 26, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr19:55667989
GRCh38:
Chr19:55156621
TNNI3Cardiovascular phenotype, Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, not specified,
Cardiomyopathy, Hypertrophic cardiomyopathy		Likely benign
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:55665439
GRCh38:
Chr19:55154071
TNNI3R170WCardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy,
not provided		Pathogenic/Likely pathogenic
(Feb 6, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:55667684
GRCh38:
Chr19:55156316
TNNI3I56TCardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Uncertain significance
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr19:55666102
GRCh38:
Chr19:55154734
TNNI3Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, not specified
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr19:55665439
GRCh38:
Chr19:55154071
TNNI3R170Gnot specified, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 14, 2021)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr19:55663261
GRCh38:
Chr19:55151893
TNNI3R192CDilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, not provided, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy		Pathogenic/Likely pathogenic
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr19:55665463
GRCh38:
Chr19:55154095
TNNI3R162WDilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 1FF, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr19:55668992
GRCh38:
Chr19:55157624
DNAAF3, TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Ciliary dyskinesia, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
Benign/Likely benign
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr19:55667982
GRCh38:
Chr19:55156614
TNNI3Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Cardiomyopathy, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 16, 2022)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr19:55668029
GRCh38:
Chr19:55156661
TNNI3not specified, Dilated cardiomyopathy 2A, Dilated cardiomyopathy 1FF,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, not provided,
Hypertrophic cardiomyopathy		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr19:55665410
GRCh38:
Chr19:55154042
DNAAF3, TNNI3Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Ciliary dyskinesia, Cardiomyopathy, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr19:55665462
GRCh38:
Chr19:55154094
TNNI3R162QCardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 1FF,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy ...see more		Pathogenic/Likely pathogenic
(May 22, 2023)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr19:55665513
GRCh38:
Chr19:55154145
TNNI3R145QCardiovascular phenotype, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy		Pathogenic/Likely pathogenic
(May 18, 2023)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr19:55665525
GRCh38:
Chr19:55154157
TNNI3R141QCardiovascular phenotype, Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr19:55665578
GRCh38:
Chr19:55154210
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr19:55665589
GRCh38:
Chr19:55154221
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, not provided,
Cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr19:55666125
GRCh38:
Chr19:55154757
TNNI3T119NCardiovascular phenotype, Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A,
Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1, not specified,
not provided, Long QT syndrome, Cardiomyopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 2AHypertrophic cardiomyopathy,
...see more		Uncertain significance
(Jul 24, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:55667578
GRCh38:
Chr19:55156210
TNNI3Cardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr19:55668509
GRCh38:
Chr19:55157141
DNAAF3, TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Ciliary dyskinesia, Cardiomyopathy,
Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy		Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr19:55667616
GRCh38:
Chr19:55156248
TNNI3R79CCardiovascular phenotype, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 1,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr19:55667647
GRCh38:
Chr19:55156279
DNAAF3, TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Cardiovascular phenotype, not specified,
not provided, Ciliary dyskinesia, Cardiomyopathy,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr19:55667653
GRCh38:
Chr19:55156285
TNNI3Cardiovascular phenotype, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
not specified, Familial restrictive cardiomyopathy, not provided,
Cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy ...see more		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr19:55667706
GRCh38:
Chr19:55156338
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified, not provided,
Cardiomyopathy, Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A,
Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr19:55667958
GRCh38:
Chr19:55156590
TNNI3, DNAAF3Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, not specified,
Familial restrictive cardiomyopathy, Ciliary dyskinesia, Cardiomyopathy,
Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7,
Hypertrophic cardiomyopathy		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr19:55665584
GRCh38:
Chr19:55154216
DNAAF3, TNNI3, TNNT1Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Nemaline Myopathy, Recessive, not specified,
Ciliary dyskinesia, Cardiomyopathy, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy		Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr3:46900985
GRCh38:
Chr3:46859495
MYL3R154HCardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr19:55665436
GRCh38:
Chr19:55154068
TNNI3A171Tnot specified, Hypertrophic cardiomyopathyUncertain significance
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr19:55665516
GRCh38:
Chr19:55154148
TNNI3L144QCardiomyopathy, familial restrictive, 1Pathogenic
(Jan 1, 2003)		no assertion criteria provided
58.
GRCh37:
Chr19:55665514
GRCh38:
Chr19:55154146
TNNI3R145Wnot provided, Cardiomyopathy, SUDDEN INFANT DEATH SYNDROME,
Hypertrophic cardiomyopathy		Pathogenic
(Dec 15, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr19:55665415
GRCh38:
Chr19:55154047
TNNI3K178EHypertrophic cardiomyopathy 7Pathogenic
(Mar 18, 2020)		criteria provided, single submitter
60.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192HHypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiovascular phenotype,
not provided, SUDDEN INFANT DEATH SYNDROME, Restrictive cardiomyopathy,
Hypertrophic cardiomyopathy		Pathogenic
(Sep 14, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr19:55663266
GRCh38:
Chr19:55151898
TNNI3D190GCardiomyopathy, familial restrictive, 1, Hypertrophic cardiomyopathy 7Pathogenic
(Jan 1, 2003)		no assertion criteria provided
62.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196NCardiovascular phenotype, Dilated cardiomyopathy 1FF, Cardiomyopathy, familial restrictive, 1,
Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Dec 29, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:55667607
GRCh38:
Chr19:55156239
TNNI3P82SFamilial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Cardiovascular phenotype,
Familial restrictive cardiomyopathy, Dilated cardiomyopathy 2A, Cardiomyopathy, familial restrictive, 1,
Dilated cardiomyopathy 1FF, Hypertrophic cardiomyopathy 7, not specified,
not provided, CardiomyopathyHypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy,
Amyloidogenic transthyretin amyloidosis, Cardiomyopathy, ...see more		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
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