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Items: 1 to 100 of 231

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
TNNT2Familial restrictive cardiomyopathy 3Pathogenic
(Jan 25, 2008)
no assertion criteria provided
2.
TNNT2Familial hypertrophic cardiomyopathy 2Pathogenic
(Dec 1, 1996)
no assertion criteria provided
3.
GRCh37:
Chr1:201328272
GRCh38:
Chr1:201359144
TNNT2Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Dilated Cardiomyopathy, Dominant
GMAF:0.00740(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:201328344
GRCh38:
Chr1:201359216
TNNT2not providedPathogenic
(May 20, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr1:201328345
GRCh38:
Chr1:201359217
TNNT2Familial hypertrophic cardiomyopathy 2, Primary familial hypertrophic cardiomyopathy, not provided
GO-ESP:0.00001(T)Pathogenic/Likely pathogenic
(Oct 26, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:201328348
GRCh38:
Chr1:201359220
TNNT2Primary familial hypertrophic cardiomyopathy, not specified, not provided,
Cardiovascular phenotype
GO-ESP:0.00008(T)
GMAF:0.00020(A)
GO-ESP:0.00008(T)
Conflicting interpretations of pathogenicity
(Jul 13, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr1:201328349
GRCh38:
Chr1:201359221
TNNT2Familial hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy, not specified
GO-ESP:0.00001(A)Conflicting interpretations of pathogenicity
(Oct 8, 2014)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr1:201328352
GRCh38:
Chr1:201359224
TNNT2Primary familial hypertrophic cardiomyopathyGO-ESP:0.00007(T)Uncertain significance
(Oct 7, 2014)
no assertion criteria provided
9.
GRCh37:
Chr1:201328353
GRCh38:
Chr1:201359225
TNNT2not specifiedLikely benign
(Jan 16, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:201328357
GRCh38:
Chr1:201359229
TNNT2Primary familial hypertrophic cardiomyopathyUncertain significance
(Oct 8, 2014)
no assertion criteria provided
11.
GRCh37:
Chr1:201328369
GRCh38:
Chr1:201359241
TNNT2not specifiedUncertain significance
(Mar 5, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr1:201328372
GRCh38:
Chr1:201359244
TNNT2not specified, not providedGMAF:0.00020(T)Conflicting interpretations of pathogenicity
(Jun 30, 2016)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:201328372
GRCh38:
Chr1:201359244
TNNT2Familial hypertrophic cardiomyopathy 1, not specifiedGMAF:0.00020(T)
GO-ESP:0.00002(T)
Uncertain significance
(Feb 11, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr1:201328373
GRCh38:
Chr1:201359245
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Familial hypertrophic cardiomyopathy 1,
Costello syndrome, Primary familial hypertrophic cardiomyopathy, not specified,
not provided, Cardiovascular phenotype
GO-ESP:0.00046(A)
GO-ESP:0.00043(A)
Conflicting interpretations of pathogenicity
(Oct 26, 2016)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr1:201328377
GRCh38:
Chr1:201359249
TNNT2Dilated cardiomyopathy 1DDUncertain significanceno assertion criteria provided
16.
GRCh37:
Chr1:201328381
GRCh38:
Chr1:201359253
TNNT2not specifiedUncertain significance
(Nov 12, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr1:201328384
GRCh38:
Chr1:201359256
TNNT2not providedPathogenic
(Apr 2, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr1:201328402
GRCh38:
Chr1:201359274
TNNT2not specifiedBenign
(Apr 20, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr1:201328729
GRCh38:
Chr1:201359601
TNNT2not specifiedGMAF:0.01460(A)
GO-ESP:0.00538(A)
Benign/Likely benign
(Sep 24, 2013)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:201328746
GRCh38:
Chr1:201359618
TNNT2Cardiomyopathy, not providedConflicting interpretations of pathogenicity
(Aug 12, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:201328750
GRCh38:
Chr1:201359622
TNNT2Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Dec 4, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr1:201328750
GRCh38:
Chr1:201359622
TNNT2Primary familial hypertrophic cardiomyopathyPathogenic
(Dec 22, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr1:201328758
GRCh38:
Chr1:201359630
TNNT2CardiomyopathyPathogenic
(Sep 11, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr1:201328760
GRCh38:
Chr1:201359632
TNNT2Familial hypertrophic cardiomyopathy 2Likely pathogeniccriteria provided, single submitter
25.
GRCh37:
Chr1:201328764
GRCh38:
Chr1:201359636
TNNT2Left ventricular noncompaction 6Pathogenic
(Nov 16, 2004)
no assertion criteria provided
26.
GRCh37:
Chr1:201328765
GRCh38:
Chr1:201359637
TNNT2Primary familial hypertrophic cardiomyopathyGMAF:0.00020(A)Likely pathogenic
(Feb 13, 2013)
no assertion criteria provided
27.
GRCh37:
Chr1:201328765
GRCh38:
Chr1:201359637
TNNT2not specifiedGO-ESP:0.00008(A)
GMAF:0.00020(A)
GO-ESP:0.00016(A)
Conflicting interpretations of pathogenicity
(Nov 15, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr1:201328767
GRCh38:
Chr1:201359639
TNNT2not specifiedUncertain significance
(Sep 21, 2011)
criteria provided, single submitter
29.
GRCh37:
Chr1:201328777
GRCh38:
Chr1:201359649
TNNT2not specifiedUncertain significance
(Sep 24, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr1:201328778
GRCh38:
Chr1:201359650
TNNT2not providedGO-ESP:0.00002(T)Likely pathogenic
(Oct 4, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr1:201328787
GRCh38:
Chr1:201359659
TNNT2not specifiedUncertain significance
(Sep 26, 2014)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:201328810
GRCh38:
Chr1:201359682
TNNT2not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:201328824
GRCh38:
Chr1:201359696
TNNT2not specifiedGMAF:0.27720(A)
GO-ESP:0.20840(A)
Benigncriteria provided, single submitter
34.
GRCh37:
Chr1:201330366
GRCh38:
Chr1:201361238
TNNT2not specifiedGMAF:0.05790(C)
GO-ESP:0.02234(C)
Likely benign
(Mar 15, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr1:201330401
GRCh38:
Chr1:201361273
TNNT2not specifiedGO-ESP:0.00002(A)Likely benign
(Feb 18, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:201330402
GRCh38:
Chr1:201361274
TNNT2not providedLikely pathogenic
(Jul 31, 2012)
criteria provided, single submitter
37.
GRCh37:
Chr1:201330412
GRCh38:
Chr1:201361284
TNNT2not providedLikely pathogenic
(Apr 3, 2013)
criteria provided, single submitter
38.
GRCh37:
Chr1:201330414
GRCh38:
Chr1:201361286
TNNT2not specifiedUncertain significance
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:201330429
GRCh38:
Chr1:201361301
TNNT2Primary familial hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant
GO-ESP:0.06020(C)
GMAF:0.09740(C)
GO-ESP:0.05073(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:201330433
GRCh38:
Chr1:201361305
TNNT2not specifiedUncertain significance
(Sep 24, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr1:201330436
GRCh38:
Chr1:201361308
TNNT2not specifiedUncertain significance
(Jun 26, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr1:201330442
GRCh38:
Chr1:201361314
TNNT2not providedGMAF:0.00020(T)
GO-ESP:0.00002(T)
Conflicting interpretations of pathogenicity
(Nov 14, 2013)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr1:201330443
GRCh38:
Chr1:201361315
TNNT2not specifiedGO-ESP:0.00007(A)Likely benign
(Jan 7, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr1:201330445
GRCh38:
Chr1:201361317
TNNT2not specifiedUncertain significance
(Oct 14, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr1:201330445
GRCh38:
Chr1:201361317
TNNT2not specifiedUncertain significance
(Mar 26, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr1:201330450
GRCh38:
Chr1:201361322
TNNT2not providedLikely pathogenic
(Mar 8, 2012)
criteria provided, single submitter
47.
GRCh37:
Chr1:201330453
GRCh38:
Chr1:201361325
TNNT2not specifiedGO-ESP:0.00001(A)Uncertain significance
(Jan 23, 2013)
no assertion criteria provided
48.
GRCh37:
Chr1:201330455
GRCh38:
Chr1:201361327
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Primary familial hypertrophic cardiomyopathy,
not specified, not provided
GO-ESP:0.00008(A)
GO-ESP:0.00033(A)
Conflicting interpretations of pathogenicity
(Dec 19, 2015)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr1:201330465
GRCh38:
Chr1:201361337
TNNT2not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr1:201330481
GRCh38:
Chr1:201361353
TNNT2not specifiedUncertain significance
(Sep 24, 2013)
criteria provided, single submitter
51.
GRCh37:
Chr1:201330501
GRCh38:
Chr1:201361373
TNNT2Sudden cardiac death, not specifiedGO-ESP:0.00015(A)
GO-ESP:0.00016(A)
Conflicting interpretations of pathogenicity
(Oct 22, 2015)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr1:201330502
GRCh38:
Chr1:201361374
TNNT2Familial restrictive cardiomyopathy, not specified, Hypertrophic cardiomyopathy,
Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant
GO-ESP:0.00002(C)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr1:201330503
GRCh38:
Chr1:201361375
TNNT2not specifiedGO-ESP:0.00001(T)Conflicting interpretations of pathogenicity
(May 8, 2015)
criteria provided, conflicting interpretations
54.
GRCh37:
Chr1:201330504
GRCh38:
Chr1:201361376
TNNT2not specifiedGO-ESP:0.00008(A)
GO-ESP:0.00006(A)
Uncertain significance
(Mar 1, 2008)
no assertion criteria provided
55.
GRCh37:
Chr1:201330506
GRCh38:
Chr1:201361378
TNNT2Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Dilated Cardiomyopathy, Dominant
GO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:201330508-201330510
GRCh38:
Chr1:201361380-201361382
TNNT2not specifiedGMAF:0.00060(-)
GO-ESP:0.00009(-)
Uncertain significance
(Feb 5, 2015)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:201331028
GRCh38:
Chr1:201361900
TNNT2not specifiedGMAF:0.00020(G)
GO-ESP:0.00002(G)
Likely benign
(Apr 17, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr1:201331048
GRCh38:
Chr1:201361920
TNNT2not specifiedUncertain significance
(Mar 18, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr1:201331054
GRCh38:
Chr1:201361926
TNNT2not specifiedUncertain significance
(Sep 5, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr1:201331068
GRCh38:
Chr1:201361940
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, Familial restrictive cardiomyopathy,
not specified, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Dilated Cardiomyopathy, Dominant
GMAF:0.00020(G)
GO-ESP:0.00012(G)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr1:201331069
GRCh38:
Chr1:201361941
TNNT2Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Dilated Cardiomyopathy, Dominant
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:201331078
GRCh38:
Chr1:201361950
TNNT2Familial hypertrophic cardiomyopathy 1, not specifiedGO-ESP:0.00003(A)Uncertain significance
(Jun 4, 2015)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:201331081
GRCh38:
Chr1:201361953
TNNT2not specifiedUncertain significance
(Dec 7, 2009)
no assertion criteria provided
64.
GRCh37:
Chr1:201331093
GRCh38:
Chr1:201361965
TNNT2not specifiedUncertain significance
(Dec 13, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr1:201331095
GRCh38:
Chr1:201361967
TNNT2Left ventricular noncompaction cardiomyopathyUncertain significance
(Jul 3, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr1:201331098
GRCh38:
Chr1:201361970
TNNT2Familial hypertrophic cardiomyopathy 2Likely pathogeniccriteria provided, single submitter
67.
GRCh37:
Chr1:201331099-201331101
GRCh38:
Chr1:201361971-201361973
TNNT2Primary dilated cardiomyopathy, Left ventricular noncompaction 6, Primary familial hypertrophic cardiomyopathy,
not provided, Cardiovascular phenotype
Pathogenic
(Oct 10, 2016)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:201331116
GRCh38:
Chr1:201361988
TNNT2not specifiedUncertain significance
(Jan 8, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr1:201331116
GRCh38:
Chr1:201361988
TNNT2not specifiedUncertain significance
(Jun 13, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr1:201331116
GRCh38:
Chr1:201361988
TNNT2Left ventricular noncompaction 6Pathogenic
(Nov 16, 2004)
no assertion criteria provided
71.
GRCh37:
Chr1:201331117
GRCh38:
Chr1:201361989
TNNT2Primary dilated cardiomyopathy, not providedPathogenic/Likely pathogenic
(Apr 29, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr1:201331122
GRCh38:
Chr1:201361994
TNNT2not specifiedUncertain significance
(Nov 28, 2012)
criteria provided, single submitter
73.
GRCh37:
Chr1:201331132
GRCh38:
Chr1:201362004
TNNT2not specifiedUncertain significance
(Mar 21, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr1:201331150
GRCh38:
Chr1:201362022
TNNT2Primary familial hypertrophic cardiomyopathyUncertain significance
(Oct 11, 2013)
no assertion criteria provided
75.
GRCh37:
Chr1:201331170-201331195
GRCh38:
Chr1:201362042-201362067
TNNT2not specifiedUncertain significanceno assertion criteria provided
76.
GRCh37:
Chr1:201331499
GRCh38:
Chr1:201362371
TNNT2not specifiedLikely benign
(Oct 25, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr1:201331523
GRCh38:
Chr1:201362395
TNNT2Dilated cardiomyopathy 1DD, not specified, not provided
GO-ESP:0.00002(T)Conflicting interpretations of pathogenicity
(Nov 11, 2015)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr1:201331529
GRCh38:
Chr1:201362401
TNNT2not specifiedGO-ESP:0.00008(T)
GO-ESP:0.00009(T)
Uncertain significance
(Mar 1, 2008)
no assertion criteria provided
79.
GRCh37:
Chr1:201331530
GRCh38:
Chr1:201362402
TNNT2Familial restrictive cardiomyopathy, not specified, Hypertrophic cardiomyopathy,
Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant
GO-ESP:0.00009(A)Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:201331551
GRCh38:
Chr1:201362423
TNNT2not specifiedGMAF:0.00060(T)
GO-ESP:0.00096(T)
Uncertain significance
(Sep 24, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr1:201331554
GRCh38:
Chr1:201362426
TNNT2not specifiedGMAF:0.25780(T)Benigncriteria provided, single submitter
82.
GRCh37:
Chr1:201332425
GRCh38:
Chr1:201363297
TNNT2not specifiedUncertain significance
(Nov 25, 2013)
criteria provided, single submitter
83.
GRCh37:
Chr1:201332431
GRCh38:
Chr1:201363303
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6Uncertain significance
(Feb 17, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:201332432
GRCh38:
Chr1:201363304
TNNT2not specifiedLikely benign
(Aug 11, 2011)
criteria provided, single submitter
85.
GRCh37:
Chr1:201332451
GRCh38:
Chr1:201363323
TNNT2not specifiedUncertain significance
(Feb 16, 2015)
criteria provided, single submitter
86.
GRCh37:
Chr1:201332452
GRCh38:
Chr1:201363324
TNNT2Primary dilated cardiomyopathyUncertain significance
(Sep 17, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr1:201332457
GRCh38:
Chr1:201363329
TNNT2not specifiedGO-ESP:0.00003(A)Likely benign
(Sep 19, 2013)
criteria provided, single submitter
88.
GRCh37:
Chr1:201332458
GRCh38:
Chr1:201363330
TNNT2Primary familial hypertrophic cardiomyopathyLikely pathogenic
(Aug 13, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr1:201332460
GRCh38:
Chr1:201363332
TNNT2not specified, not providedUncertain significance
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:201332464
GRCh38:
Chr1:201363336
TNNT2not specifiedUncertain significance
(Jun 1, 2012)
criteria provided, single submitter
91.
GRCh37:
Chr1:201332472
GRCh38:
Chr1:201363344
TNNT2not specifiedLikely benign
(Jun 22, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr1:201332476
GRCh38:
Chr1:201363348
TNNT2Primary dilated cardiomyopathy, Familial hypertrophic cardiomyopathy 2, not provided
Likely pathogenic
(Aug 12, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:201332477
GRCh38:
Chr1:201363349
TNNT2Primary dilated cardiomyopathy, not providedPathogenic/Likely pathogenic
(Jan 7, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:201332477
GRCh38:
Chr1:201363349
TNNT2not specifiedUncertain significance
(Jun 16, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr1:201332498
GRCh38:
Chr1:201363370
TNNT2not providedLikely pathogenic
(Feb 28, 2014)
criteria provided, single submitter
96.
GRCh37:
Chr1:201332502
GRCh38:
Chr1:201363374
TNNT2not specifiedGMAF:0.00120(A)Uncertain significance
(Nov 7, 2013)
criteria provided, single submitter
97.
GRCh37:
Chr1:201332502
GRCh38:
Chr1:201363374
TNNT2Dilated cardiomyopathy 1DD, not specifiedGMAF:0.00120(A)
GO-ESP:0.00046(A)
Conflicting interpretations of pathogenicity
(Mar 11, 2015)
criteria provided, conflicting interpretations
98.
GRCh37:
Chr1:201332505-201332507
GRCh38:
Chr1:201363377-201363379
TNNT2Primary familial hypertrophic cardiomyopathyPathogenic/Likely pathogenic
(May 1, 2015)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr1:201332507-201332508
GRCh38:
Chr1:201363379-201363380
TNNT2Familial hypertrophic cardiomyopathy 2, Left ventricular noncompaction 6, not specified
Uncertain significance
(Jan 9, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr1:201332518
GRCh38:
Chr1:201363390
TNNT2not specified, not providedConflicting interpretations of pathogenicity
(Mar 11, 2015)
criteria provided, conflicting interpretations
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