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Items: 1 to 100 of 441

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:55662931
GRCh38:
Chr19:55151563
TNNI3not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV001256927
2.
GRCh37:
Chr19:55663000
GRCh38:
Chr19:55151632
TNNI3not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001231873
3.
GRCh37:
Chr19:55663080
GRCh38:
Chr19:55151712
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001199784
4.
GRCh37:
Chr19:55663096
GRCh38:
Chr19:55151728
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001209416
5.
GRCh37:
Chr19:55663158
GRCh38:
Chr19:55151790
TNNI3Dilated cardiomyopathy 2A, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial hypertrophic cardiomyopathy 7,
Familial restrictive cardiomyopathy 1
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000893714
6.
GRCh37:
Chr19:55663167
GRCh38:
Chr19:55151799
TNNI3Familial restrictive cardiomyopathy 1, Dilated cardiomyopathy 2A, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial hypertrophic cardiomyopathy 7, not provided
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000188677
7.
GRCh37:
Chr19:55663182-55666218
GRCh38:
Chr19:55151814-55154850
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Apr 27, 2018)
criteria provided, single submitterVCV000583543
8.
GRCh38:
Chr19:55151814-55157609
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Jun 28, 2018)
criteria provided, single submitterVCV000454299
9.
GRCh37:
Chr19:55663186
GRCh38:
Chr19:55151818
TNNI3not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001290283
10.
GRCh37:
Chr19:55663199
GRCh38:
Chr19:55151831
TNNI3CardiomyopathyLikely benign
(Oct 11, 2018)
criteria provided, single submitterVCV000629455
11.
GRCh37:
Chr19:55663203
GRCh38:
Chr19:55151835
TNNI3not specified, not providedUncertain significance
(Jun 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000181596
12.
GRCh37:
Chr19:55663208
GRCh38:
Chr19:55151840
TNNI3E209DFamilial restrictive cardiomyopathy 1Uncertain significanceno assertion criteria providedVCV000545499
13.
GRCh37:
Chr19:55663209
GRCh38:
Chr19:55151841
TNNI3E209Anot provided, Hypertrophic cardiomyopathyUncertain significance
(Nov 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000181595
14.
GRCh37:
Chr19:55663210-55663211
GRCh38:
Chr19:55151842-55151843
TNNI3E209*not provided, Familial restrictive cardiomyopathyConflicting interpretations of pathogenicity
(Jul 3, 2019)
criteria provided, conflicting interpretationsVCV000636992
15.
GRCh37:
Chr19:55663210
GRCh38:
Chr19:55151842
TNNI3E209Knot provided, not specified, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000177666
16.
GRCh37:
Chr19:55663211
GRCh38:
Chr19:55151843
TNNI3F208Lnot specifiedUncertain significance
(Jan 22, 2016)
criteria provided, single submitterVCV000229335
17.
GRCh37:
Chr19:55663213
GRCh38:
Chr19:55151845
TNNI3F208Inot specifiedUncertain significance
(Jul 6, 2015)
criteria provided, single submitterVCV000229334
18.
GRCh37:
Chr19:55663214
GRCh38:
Chr19:55151846
TNNI3K207NHypertrophic cardiomyopathyUncertain significance
(Sep 12, 2019)
criteria provided, single submitterVCV000953466
19.
GRCh37:
Chr19:55663215
GRCh38:
Chr19:55151847
TNNI3K207RHypertrophic cardiomyopathyUncertain significance
(Jun 14, 2019)
criteria provided, single submitterVCV000945741
20.
GRCh37:
Chr19:55663217
GRCh38:
Chr19:55151849
TNNI3not providedLikely benign
(Jun 15, 2018)
criteria provided, single submitterVCV000671765
21.
GRCh37:
Chr19:55663218
GRCh38:
Chr19:55151850
TNNI3K206Inot providedPathogenic
(Apr 3, 2013)
criteria provided, single submitterVCV000181594
22.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206Enot providedPathogenic
(Jun 28, 2013)
criteria provided, single submitterVCV000181593
23.
GRCh37:
Chr19:55663219
GRCh38:
Chr19:55151851
TNNI3K206QFamilial hypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000012420
24.
GRCh37:
Chr19:55663221
GRCh38:
Chr19:55151853
TNNI3K205TCardiovascular phenotypeUncertain significance
(Aug 22, 2016)
criteria provided, single submitterVCV000520294
25.
GRCh37:
Chr19:55663222
GRCh38:
Chr19:55151854
TNNI3K205Qnot specifiedUncertain significance
(Nov 3, 2014)
criteria provided, single submitterVCV000180077
26.
GRCh37:
Chr19:55663223
GRCh38:
Chr19:55151855
TNNI3CardiomyopathyLikely benign
(Jan 6, 2019)
criteria provided, single submitterVCV000918372
27.
GRCh37:
Chr19:55663224
GRCh38:
Chr19:55151856
TNNI3R204Hnot provided, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000177679
28.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204SHypertrophic cardiomyopathyUncertain significance
(Apr 14, 2017)
criteria provided, single submitterVCV000454412
29.
GRCh37:
Chr19:55663225
GRCh38:
Chr19:55151857
TNNI3R204Cnot specified, not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 26, 2020)
criteria provided, conflicting interpretationsVCV000177631
30.
GRCh37:
Chr19:55663226
GRCh38:
Chr19:55151858
TNNI3not specified, not provided, Hypertrophic cardiomyopathy
Benign/Likely benign
(Dec 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000137688
31.
GRCh37:
Chr19:55663228
GRCh38:
Chr19:55151860
TNNI3G203SFamilial hypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000012432
32.
GRCh37:
Chr19:55663229
GRCh38:
Chr19:55151861
TNNI3Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Likely benign
(Dec 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000695198
33.
GRCh37:
Chr19:55663233
GRCh38:
Chr19:55151865
TNNI3M201THypertrophic cardiomyopathyLikely pathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000177863
34.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200VHypertrophic cardiomyopathyUncertain significance
(Feb 23, 2018)
criteria provided, single submitterVCV000410990
35.
GRCh37:
Chr19:55663236
GRCh38:
Chr19:55151868
TNNI3G200EHypertrophic cardiomyopathyUncertain significance
(Feb 15, 2016)
criteria provided, single submitterVCV000237692
36.
GRCh37:
Chr19:55663239
GRCh38:
Chr19:55151871
TNNI3S199Nnot provided, Familial hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 2, 2020)
criteria provided, conflicting interpretationsVCV000181603
37.
GRCh37:
Chr19:55663240
GRCh38:
Chr19:55151872
TNNI3S199CHypertrophic cardiomyopathyUncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001018432
38.
GRCh37:
Chr19:55663241
GRCh38:
Chr19:55151873
TNNI3not providedLikely benign
(Apr 13, 2018)
criteria provided, single submitterVCV000682159
39.
GRCh37:
Chr19:55663243
GRCh38:
Chr19:55151875
TNNI3L198Vnot specified, not provided, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 26, 2020)
criteria provided, conflicting interpretationsVCV000177694
40.
GRCh37:
Chr19:55663248
GRCh38:
Chr19:55151880
TNNI3D196GHypertrophic cardiomyopathyUncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV001052513
41.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196Ynot specified, CardiomyopathyUncertain significance
(Mar 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000179492
42.
GRCh37:
Chr19:55663249
GRCh38:
Chr19:55151881
TNNI3D196NHypertrophic cardiomyopathy, not provided, Cardiomyopathy,
Familial hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Feb 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000012422
43.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3Cardiomyopathy, not provided, Hypertrophic cardiomyopathy
Likely benign
(Nov 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000918687
44.
GRCh37:
Chr19:55663250
GRCh38:
Chr19:55151882
TNNI3I195MHypertrophic cardiomyopathyUncertain significance
(Mar 25, 2020)
criteria provided, single submitterVCV000862754
45.
GRCh37:
Chr19:55663252
GRCh38:
Chr19:55151884
TNNI3I195Lnot provided, not specifiedUncertain significance
(Sep 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000229333
46.
GRCh37:
Chr19:55663253
GRCh38:
Chr19:55151885
TNNI3N194Knot providedLikely pathogenic
(Jun 23, 2017)
criteria provided, single submitterVCV000181602
47.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194THypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Uncertain significance
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000519178
48.
GRCh37:
Chr19:55663254
GRCh38:
Chr19:55151886
TNNI3N194Snot providedLikely pathogenic
(Dec 5, 2013)
criteria provided, single submitterVCV000181592
49.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193Nnot providedLikely pathogenic
(Nov 27, 2013)
criteria provided, single submitterVCV000181591
50.
GRCh37:
Chr19:55663256
GRCh38:
Chr19:55151888
TNNI3K193NHypertrophic cardiomyopathy, not specifiedUncertain significance
(Nov 12, 2015)
criteria provided, multiple submitters, no conflictsVCV000043396
51.
GRCh37:
Chr19:55663258
GRCh38:
Chr19:55151890
TNNI3K193Enot provided, Hypertrophic cardiomyopathyUncertain significance
(Aug 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000181590
52.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192PHypertrophic cardiomyopathyLikely pathogenic
(Jul 13, 2016)
criteria provided, single submitterVCV000179536
53.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192LHypertrophic cardiomyopathyLikely pathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000177831
54.
GRCh37:
Chr19:55663260
GRCh38:
Chr19:55151892
TNNI3R192HHypertrophic cardiomyopathy, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy,
Cardiovascular phenotype, Familial restrictive cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy,
Restrictive cardiomyopathy, not provided
Pathogenic
(Jun 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000012424
55.
GRCh37:
Chr19:55663261
GRCh38:
Chr19:55151893
TNNI3R192Cnot provided, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000165510
56.
GRCh37:
Chr19:55663265
GRCh38:
Chr19:55151897
TNNI3D190Enot providedUncertain significance
(May 24, 2017)
criteria provided, single submitterVCV000430246
57.
GRCh37:
Chr19:55663266-55663272
GRCh38:
Chr19:55151898-55151904
TNNI3V188fsHypertrophic cardiomyopathyUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV001004884
58.
GRCh37:
Chr19:55663266
GRCh38:
Chr19:55151898
TNNI3D190GFamilial restrictive cardiomyopathy 1, Familial hypertrophic cardiomyopathy 7Pathogenic
(Jan 1, 2003)
no assertion criteria providedVCV000012423
59.
GRCh37:
Chr19:55663267
GRCh38:
Chr19:55151899
TNNI3D190YHypertrophic cardiomyopathyLikely pathogenic
(Jul 11, 2019)
criteria provided, single submitterVCV000165511
60.
GRCh37:
Chr19:55663268
GRCh38:
Chr19:55151900
TNNI3CardiomyopathyLikely benign
(Oct 16, 2018)
criteria provided, single submitterVCV000629559
61.
GRCh37:
Chr19:55663269
GRCh38:
Chr19:55151901
TNNI3G189EPrimary familial hypertrophic cardiomyopathyUncertain significance
(Dec 20, 2013)
no assertion criteria providedVCV000155841
62.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Lnot providedUncertain significance
(Feb 23, 2012)
criteria provided, single submitterVCV000181589
63.
GRCh37:
Chr19:55663273
GRCh38:
Chr19:55151905
TNNI3V188Mnot specified, not providedConflicting interpretations of pathogenicity
(Jan 27, 2021)
criteria provided, conflicting interpretationsVCV000036883
64.
GRCh37:
Chr19:55663274
GRCh38:
Chr19:55151906
TNNI3E187DHypertrophic cardiomyopathyUncertain significance
(Jun 19, 2019)
criteria provided, single submitterVCV000454411
65.
GRCh37:
Chr19:55663275-55663276
GRCh38:
Chr19:55151907-55151908
TNNI3E187RHypertrophic cardiomyopathyUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV001025681
66.
GRCh37:
Chr19:55663276
GRCh38:
Chr19:55151908
TNNI3E187Knot specifiedUncertain significance
(Apr 24, 2014)
criteria provided, single submitterVCV000179710
67.
GRCh37:
Chr19:55663278
GRCh38:
Chr19:55151910
TNNI3R186QHypertrophic cardiomyopathy, Cardiovascular phenotype, not provided,
Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Familial hypertrophic cardiomyopathy 7
Pathogenic/Likely pathogenic
(Aug 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000043395
68.
GRCh37:
Chr19:55663279
GRCh38:
Chr19:55151911
TNNI3R186Wnot provided, CardiomyopathyConflicting interpretations of pathogenicity
(Nov 15, 2019)
criteria provided, conflicting interpretationsVCV000546467
69.
GRCh37:
Chr19:55663280
GRCh38:
Chr19:55151912
TNNI3N185KDilated cardiomyopathy 1FFPathogenic
(Aug 14, 2009)
no assertion criteria providedVCV000012431
70.
GRCh37:
Chr19:55663281
GRCh38:
Chr19:55151913
TNNI3N185Snot providedLikely pathogenic
(Jun 25, 2012)
criteria provided, single submitterVCV000181588
71.
GRCh37:
Chr19:55663282
GRCh38:
Chr19:55151914
TNNI3N185Ynot providedUncertain significance
(Jun 26, 2020)
criteria provided, single submitterVCV000181601
72.
GRCh37:
Chr19:55663285
GRCh38:
Chr19:55151917
TNNI3E184QHypertrophic cardiomyopathyUncertain significance
(Sep 5, 2019)
criteria provided, single submitterVCV000936081
73.
GRCh37:
Chr19:55663285
GRCh38:
Chr19:55151917
TNNI3E184KPrimary dilated cardiomyopathyLikely pathogenic
(Sep 6, 2013)
no assertion criteria providedVCV000043394
74.
GRCh37:
Chr19:55663286
GRCh38:
Chr19:55151918
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Nov 27, 2018)
criteria provided, single submitterVCV000492986
75.
GRCh37:
Chr19:55663293
GRCh38:
Chr19:55151925
TNNI3Hypertrophic cardiomyopathyUncertain significance
(May 1, 2018)
criteria provided, single submitterVCV000580854
76.
GRCh37:
Chr19:55663295
GRCh38:
Chr19:55151927
TNNI3Hypertrophic cardiomyopathy, not specified, not provided,
Cardiomyopathy
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000043393
77.
GRCh37:
Chr19:55663296
GRCh38:
Chr19:55151928
TNNI3Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated cardiomyopathy 2A, Familial hypertrophic cardiomyopathy 7,
Familial restrictive cardiomyopathy 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000330198
78.
GRCh37:
Chr19:55663297
GRCh38:
Chr19:55151929
TNNI3not specified, CardiomyopathyConflicting interpretations of pathogenicity
(Dec 10, 2019)
criteria provided, conflicting interpretationsVCV000928213
79.
GRCh37:
Chr19:55663298
GRCh38:
Chr19:55151930
TNNI3CardiomyopathyLikely benign
(Jun 4, 2019)
criteria provided, single submitterVCV000927146
80.
GRCh37:
Chr19:55663299
GRCh38:
Chr19:55151931
TNNI3Cardiomyopathy, not providedBenign/Likely benign
(Sep 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000922772
81.
GRCh37:
Chr19:55663390-55663391
GRCh38:
Chr19:55152022-55152023
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001217767
82.
GRCh37:
Chr19:55663397
GRCh38:
Chr19:55152029
TNNI3not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001191717
83.
GRCh37:
Chr19:55663442
GRCh38:
Chr19:55152074
TNNI3not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000675756
84.
GRCh37:
Chr19:55663540-55663541
GRCh38:
Chr19:55152172-55152173
TNNI3not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000680810
85.
GRCh37:
Chr19:55665131
GRCh38:
Chr19:55153763
TNNI3not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000681245
86.
GRCh37:
Chr19:55665187
GRCh38:
Chr19:55153819
TNNI3not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000675346
87.
GRCh37:
Chr19:55665270
GRCh38:
Chr19:55153902
TNNI3not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000675345
88.
GRCh37:
Chr19:55665329-55665330
GRCh38:
Chr19:55153961-55153962
TNNI3not provided, Primary familial hypertrophic cardiomyopathyConflicting interpretations of pathogenicity
(Jun 19, 2018)
criteria provided, conflicting interpretationsVCV000036882
89.
GRCh37:
Chr19:55665394
GRCh38:
Chr19:55154026
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Mar 28, 2018)
criteria provided, single submitterVCV000572460
90.
GRCh37:
Chr19:55665397-55665411
GRCh38:
Chr19:55154029-55154043
TNNI3Hypertrophic cardiomyopathyUncertain significance
(Dec 22, 2017)
criteria provided, single submitterVCV001015200
91.
GRCh37:
Chr19:55665398-55665400
GRCh38:
Chr19:55154030-55154032
TNNI3K183delFamilial hypertrophic cardiomyopathy 7Pathogenic
(Aug 1, 1997)
no assertion criteria providedVCV000012433
92.
GRCh37:
Chr19:55665399
GRCh38:
Chr19:55154031
TNNI3K183Tnot providedPathogenic
(Feb 15, 2014)
criteria provided, single submitterVCV000181587
93.
GRCh37:
Chr19:55665400
GRCh38:
Chr19:55154032
TNNI3K183Enot providedPathogenic
(Mar 30, 2013)
criteria provided, single submitterVCV000181586
94.
GRCh37:
Chr19:55665401
GRCh38:
Chr19:55154033
TNNI3Hypertrophic cardiomyopathyLikely benign
(Oct 18, 2019)
criteria provided, single submitterVCV001123079
95.
GRCh37:
Chr19:55665403
GRCh38:
Chr19:55154035
TNNI3E182Knot provided, Cardiomyopathy, Primary dilated cardiomyopathy
Pathogenic/Likely pathogenic
(Dec 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000043392
96.
GRCh37:
Chr19:55665404
GRCh38:
Chr19:55154036
TNNI3not specified, not providedBenign/Likely benignno assertion criteria providedVCV001284328
97.
GRCh37:
Chr19:55665404
GRCh38:
Chr19:55154036
TNNI3Hypertrophic cardiomyopathyLikely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001123114
98.
GRCh37:
Chr19:55665408
GRCh38:
Chr19:55154040
TNNI3D180Gnot specified, not provided, Cardiovascular phenotype,
Hypertrophic cardiomyopathy
Uncertain significance
(Nov 16, 2019)
criteria provided, multiple submitters, no conflictsVCV000403557
99.
GRCh37:
Chr19:55665409
GRCh38:
Chr19:55154041
TNNI3D180NPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Sep 14, 2018)
criteria provided, single submitterVCV000410989
100.
GRCh37:
Chr19:55665409
GRCh38:
Chr19:55154041
TNNI3D180fsnot specifiedUncertain significance
(Jun 3, 2015)
criteria provided, single submitterVCV000229332
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