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Links from MedGen

Items: 71

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:63354907
GRCh38:
Chr15:63062708
TPM1I243V, I279VDilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr15:63335113
GRCh38:
Chr15:63042914
TPM1K29QHypertrophic cardiomyopathy 3Uncertain significance
(Feb 23, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr15:63336220
GRCh38:
Chr15:63044021
TPM1Hypertrophic cardiomyopathy 3Uncertain significance
(May 6, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr15:63353086
GRCh38:
Chr15:63060887
TPM1I135V, I213V, I171VDilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiovascular phenotype,
Hypertrophic cardiomyopathy
Uncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr15:63335030
GRCh38:
Chr15:63042831
TPM1M1THypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Uncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr15:63358128-63358129
GRCh38:
Chr15:63065929-63065930
TPM1S234fs, S270fsDilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3Benign
(Sep 10, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr15:63335029
GRCh38:
Chr15:63042830
TPM1M1VDilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, not provided,
Cardiovascular phenotype
Uncertain significance
(May 3, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:63355007
GRCh38:
Chr15:63062808
TPM1not provided, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
Conflicting interpretations of pathogenicity
(Mar 30, 2021)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr15:63358090
GRCh38:
Chr15:63065891
TPM1Cardiovascular phenotype, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jan 17, 2023)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr15:63335121
GRCh38:
Chr15:63042922
TPM1Cardiovascular phenotype, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Hypertrophic cardiomyopathy
Likely benign
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:63356329
GRCh38:
Chr15:63064130
TPM1D244A, D280AHypertrophic cardiomyopathy 3Uncertain significance
(Jan 1, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr15:63336250
GRCh38:
Chr15:63044051
TPM1Q47E, Q89EHypertrophic cardiomyopathy 3Uncertain significance
(Aug 6, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr15:63353978
GRCh38:
Chr15:63061779
TPM1Q174H, Q210H, Q252HCardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 31, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:63335022
GRCh38:
Chr15:63042823
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy
Uncertain significance
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr15:63349215
GRCh38:
Chr15:63057016
TPM1R55H, R91H, R133HCardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y
Uncertain significance
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:63353144
GRCh38:
Chr15:63060945
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy
Likely benign
(Aug 17, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:63353934
GRCh38:
Chr15:63061735
TPM1E160*, E238*, E196*Cardiomyopathy, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Aug 21, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr15:63358226
GRCh38:
Chr15:63066027
TPM1Hypertrophic cardiomyopathy 3, not provided, Dilated cardiomyopathy 1Y
Conflicting interpretations of pathogenicity
(May 9, 2018)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr15:63349214
GRCh38:
Chr15:63057015
TPM1R55C, R91C, R133CCardiovascular phenotype, Cardiomyopathy, not provided,
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
Uncertain significance
(Dec 14, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:63358135
GRCh38:
Chr15:63065936
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr15:63358109
GRCh38:
Chr15:63065910
TPM1F227V, F263VHypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr15:63356330
GRCh38:
Chr15:63064131
TPM1Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y, not provided, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:63335034
GRCh38:
Chr15:63042835
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr15:63334982
GRCh38:
Chr15:63042783
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr15:63334844
GRCh38:
Chr15:63042645
TPM1not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Conflicting interpretations of pathogenicity
(Mar 23, 2018)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr15:63358307
GRCh38:
Chr15:63066108
TPM1Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr15:63349253
GRCh38:
Chr15:63057054
TPM1E68Q, E104Q, E146QHypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathyUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:63354861
GRCh38:
Chr15:63062662
TPM1Hypertrophic cardiomyopathy 3Uncertain significance
(Dec 3, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr15:63351861
GRCh38:
Chr15:63059662
TPM1Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y, Cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr15:63335145
GRCh38:
Chr15:63042946
TPM1Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiovascular phenotype,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:63349257
GRCh38:
Chr15:63057058
TPM1R105H, R69H, R147HHypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Cardiomyopathy
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:63335134
GRCh38:
Chr15:63042935
TPM1S36GCardiovascular phenotype, Hypertrophic cardiomyopathy 3, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:63349205
GRCh38:
Chr15:63057006
TPM1L88V, L130V, L52VDilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr15:63336221
GRCh38:
Chr15:63044022
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
Uncertain significance
(Sep 13, 2021)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr15:63356273
GRCh38:
Chr15:63064074
TPM1Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y, Cardiomyopathy, Hypertrophic cardiomyopathy
Likely benign
(Aug 30, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr15:63358246
GRCh38:
Chr15:63066047
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, not provided
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr15:63358243
GRCh38:
Chr15:63066044
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr15:63358174
GRCh38:
Chr15:63065975
TPM1not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:63358166
GRCh38:
Chr15:63065967
TPM1I246V, I282Vnot provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
40.
GRCh37:
Chr15:63353907
GRCh38:
Chr15:63061708
TPM1Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr15:63349192
GRCh38:
Chr15:63056993
TPM1Hypertrophic cardiomyopathy 3, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr15:63334935
GRCh38:
Chr15:63042736
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1YUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:63334923
GRCh38:
Chr15:63042724
TPM1Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y
Uncertain significance
(Jul 28, 2021)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:63334915
GRCh38:
Chr15:63042716
TPM1Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y
Uncertain significance
(Aug 3, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:63334843
GRCh38:
Chr15:63042644
TPM1not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Conflicting interpretations of pathogenicity
(Dec 1, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr15:63335090
GRCh38:
Chr15:63042891
TPM1R21LCardiovascular phenotype, Cardiomyopathy, See cases,
not specified, Hypertrophic cardiomyopathy 3, not provided,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr15:63353088
GRCh38:
Chr15:63060889
TPM1I171M, I213M, I135MHypertrophic cardiomyopathy 3, not providedUncertain significance
(May 22, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr15:63351759
GRCh38:
Chr15:63059560
TPM1Cardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr15:63353901
GRCh38:
Chr15:63061702
TPM1not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 3,
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 11, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr15:63335156
GRCh38:
Chr15:63042957
TPM1not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr15:63335891
GRCh38:
Chr15:63043692
TPM1not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Cardiomyopathy
Benign/Likely benign
(Jul 27, 2021)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:63356335
GRCh38:
Chr15:63064136
TPM1T282S, T246SCardiovascular phenotype, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Primary dilated cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr15:63356319
GRCh38:
Chr15:63064120
TPM1A277T, A241Tnot specified, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:63335092
GRCh38:
Chr15:63042893
TPM1A22TCardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 26, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr15:63353451
GRCh38:
Chr15:63061252
TPM1not specified, not provided, Cardiomyopathy,
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:63353387
GRCh38:
Chr15:63061188
TPM1not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
Uncertain significance
(Aug 18, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:63353123
GRCh38:
Chr15:63060924
TPM1A183V, A225V, A147VCardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Sep 29, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr15:63353097
GRCh38:
Chr15:63060898
TPM1Cardiovascular phenotype, not provided, not specified,
Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr15:63353062
GRCh38:
Chr15:63060863
TPM1not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Apr 17, 2021)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr15:63351862
GRCh38:
Chr15:63059663
TPM1D159N, D123N, D201NFamilial cardiomyopathy, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Primary dilated cardiomyopathy,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr15:63335055
GRCh38:
Chr15:63042856
TPM1Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Oct 30, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr15:63349195
GRCh38:
Chr15:63056996
TPM1D84E, D48E, D126Enot specified, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Nov 15, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:63336229
GRCh38:
Chr15:63044030
TPM1E40*, E82*Cardiovascular phenotype, not specified, not provided,
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy,
Hypertrophic cardiomyopathy
Uncertain significance
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:63351873
GRCh38:
Chr15:63059674
TPM1Cardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:63351840
GRCh38:
Chr15:63059641
TPM1Cardiovascular phenotype, not specified, Cardiomyopathy,
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y,
Hypertrophic cardiomyopathy
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:63354462
GRCh38:
Chr15:63062263
TPM1D230N, D194N, D272Nnot provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3,
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
Pathogenic
(Nov 30, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr15:63353922
GRCh38:
Chr15:63061723
TPM1E192K, E156K, E234KCardiovascular phenotype, not provided, Cardiomyopathy,
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Nov 9, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:63336299
GRCh38:
Chr15:63044100
TPM1A63V, A105VCardiovascular phenotype, Hypertrophic cardiomyopathy 3, not provided,
Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(Jun 23, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr15:63349227
GRCh38:
Chr15:63057028
TPM1V95A, V137A, V59ACardiovascular phenotype, not provided, Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr15:63353098
GRCh38:
Chr15:63060899
TPM1D175N, D139N, D217NCardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Primary familial hypertrophic cardiomyopathy,
Hypertrophic cardiomyopathy
Pathogenic
(Feb 24, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr15:63353114
GRCh38:
Chr15:63060915
TPM1E180G, E222G, E144Gnot provided, Hypertrophic cardiomyopathyPathogenic
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
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