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Links from MedGen

Items: 1 to 100 of 822

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:88441257-88441258
GRCh38:
Chr10:86681500-86681501
LDB3Myofibrillar myopathy 4, Dilated cardiomyopathy 1CUncertain significance
(Mar 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr10:88428449-88428561
LDB3Myofibrillar myopathy 4Uncertain significance
(Jul 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:88476248
GRCh38:
Chr10:86716491
LDB3A419T, A471T, A403T, A356T, A466TMyofibrillar myopathy 4Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr10:88439845
GRCh38:
Chr10:86680088
LDB3Myofibrillar myopathy 4Likely benign
(Aug 30, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr10:88446870
GRCh38:
Chr10:86687113
LDB3, LOC110121486S130L, S245LMyofibrillar myopathy 4Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:88428461-88428462
GRCh38:
Chr10:86668704-86668705
LDB3Cardiovascular phenotype, Myofibrillar myopathy 4Uncertain significance
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:88485887
GRCh38:
Chr10:86726130
LDB3Myofibrillar myopathy 4Uncertain significance
(Mar 10, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr10:88492713
GRCh38:
Chr10:86732956
LDB3A675S, A727S, A612S, A722S, A659SMyofibrillar myopathy 4Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:88466328
GRCh38:
Chr10:86706571
LDB3T266A, T313AMyofibrillar myopathy 4Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:88441327-88441329
GRCh38:
Chr10:86681570-86681572
LDB3S154delMyofibrillar myopathy 4Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:88492696
GRCh38:
Chr10:86732939
LDB3P606L, P721L, P669L, P653L, P716LMyofibrillar myopathy 4Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr10:88476535
GRCh38:
Chr10:86716778
LDB3Myofibrillar myopathy 4Likely benign
(Jun 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:88477913
GRCh38:
Chr10:86718156
LDB3Myofibrillar myopathy 4Likely benign
(Mar 26, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:88451669
GRCh38:
Chr10:86691912
LDB3D304H, D189H, D236HMyofibrillar myopathy 4Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr10:88476222
GRCh38:
Chr10:86716465
LDB3P457L, P347L, P410L, P462L, P394LMyofibrillar myopathy 4Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:88441278
GRCh38:
Chr10:86681521
LDB3P136RMyofibrillar myopathy 4Likely benign
(May 20, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:88478469
GRCh38:
Chr10:86718712
LDB3Myofibrillar myopathy 4Uncertain significance
(May 17, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:88441533
GRCh38:
Chr10:86681776
LDB3K221RMyofibrillar myopathy 4Uncertain significance
(May 25, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:88441571
GRCh38:
Chr10:86681814
LDB3Myofibrillar myopathy 4Likely benign
(May 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr10:88476271
GRCh38:
Chr10:86716514
LDB3Myofibrillar myopathy 4Likely benign
(Aug 15, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:88476395
GRCh38:
Chr10:86716638
LDB3P452S, P468S, P405S, P515S, P520SMyofibrillar myopathy 4Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:88439932
GRCh38:
Chr10:86680175
LDB3Myofibrillar myopathy 4Likely benign
(Mar 18, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:88476078-88476079
GRCh38:
Chr10:86716321-86716322
LDB3Myofibrillar myopathy 4Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:88459092
GRCh38:
Chr10:86699335
LDB3Myofibrillar myopathy 4Likely benign
(Jul 12, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:88441198
GRCh38:
Chr10:86681441
LDB3Myofibrillar myopathy 4Likely benign
(Aug 22, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:88459127
GRCh38:
Chr10:86699370
LDB3S283N, S398N, S330NMyofibrillar myopathy 4Uncertain significance
(Jul 26, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:88469710
GRCh38:
Chr10:86709953
LDB3Myofibrillar myopathy 4Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:88441368
GRCh38:
Chr10:86681611
LDB3A166DMyofibrillar myopathy 4Likely benign
(Jul 15, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:88476256-88476257
GRCh38:
Chr10:86716499-86716500
LDB3N360fs, N407fs, N475fs, N423fs, N470fsMyofibrillar myopathy 4Uncertain significance
(Mar 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:88439107
GRCh38:
Chr10:86679350
LDB3Myofibrillar myopathy 4Likely benign
(Jun 11, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr10:88466271
GRCh38:
Chr10:86706514
LDB3Myofibrillar myopathy 4Likely benign
(Feb 14, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:88447035
GRCh38:
Chr10:86687278
LDB3, LOC110121486Myofibrillar myopathy 4Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:88439933
GRCh38:
Chr10:86680176
LDB3Myofibrillar myopathy 4Likely benign
(Aug 20, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:88469737
GRCh38:
Chr10:86709980
LDB3Myofibrillar myopathy 4Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:88441366
GRCh38:
Chr10:86681609
LDB3Myofibrillar myopathy 4Likely benign
(Apr 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:88492716
GRCh38:
Chr10:86732959
LDB3H613Y, H723Y, H660Y, H676Y, H728YMyofibrillar myopathy 4Uncertain significance
(Jun 7, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:88428522
GRCh38:
Chr10:86668765
LDB3M25TMyofibrillar myopathy 4Uncertain significance
(Jun 7, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:88476086
GRCh38:
Chr10:86716329
LDB3P302A, P349A, P365A, P412A, P417AMyofibrillar myopathy 4Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:88441316
GRCh38:
Chr10:86681559
LDB3P149SMyofibrillar myopathy 4Likely benign
(Apr 11, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:88485977
GRCh38:
Chr10:86726220
LDB3H641Y, H688Y, H693Y, H578Y, H625YMyofibrillar myopathy 4Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:88439241
GRCh38:
Chr10:86679484
LDB3S71AMyofibrillar myopathy 4Uncertain significance
(Apr 14, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:88441185-88441186
GRCh38:
Chr10:86681428-86681429
LDB3Myofibrillar myopathy 4Likely benign
(Apr 11, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:88439177
GRCh38:
Chr10:86679420
LDB3Myofibrillar myopathy 4Likely benign
(Apr 3, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:88469787
GRCh38:
Chr10:86710030
LDB3R357L, R409L, R341L, R294L, R404LMyofibrillar myopathy 4Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr10:88469823
GRCh38:
Chr10:86710066
LDB3Myofibrillar myopathy 4Likely benign
(Oct 5, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:88469762
GRCh38:
Chr10:86710005
LDB3Myofibrillar myopathy 4Uncertain significance
(Jun 17, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:88477879
GRCh38:
Chr10:86718122
LDB3K617M, K502M, K549M, K565M, K612MMyofibrillar myopathy 4Uncertain significance
(Mar 20, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:88469732
GRCh38:
Chr10:86709975
LDB3E323K, E339K, E276K, E386K, E391KMyofibrillar myopathy 4Uncertain significance
(Sep 29, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:88469814
GRCh38:
Chr10:86710057
LDB3Myofibrillar myopathy 4Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:88477796
GRCh38:
Chr10:86718039
LDB3Myofibrillar myopathy 4Likely benign
(Mar 16, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:88441449
GRCh38:
Chr10:86681692
LDB3R193KMyofibrillar myopathy 4Likely benign
(Mar 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:88477901
GRCh38:
Chr10:86718144
LDB3Myofibrillar myopathy 4Uncertain significance
(Jul 11, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:88485946
GRCh38:
Chr10:86726189
LDB3E630D, E682D, E567D, E614D, E677DMyofibrillar myopathy 4Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:88451644
GRCh38:
Chr10:86691887
LDB3Myofibrillar myopathy 4Likely benign
(Jan 27, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:88428460
GRCh38:
Chr10:86668703
LDB3Myofibrillar myopathy 4Likely benign
(Jan 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:88441506
GRCh38:
Chr10:86681749
LDB3Q212LMyofibrillar myopathy 4Likely benign
(Jun 10, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:88441455
GRCh38:
Chr10:86681698
LDB3Y195CMyofibrillar myopathy 4Likely benign
(Sep 27, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:88478493
GRCh38:
Chr10:86718736
LDB3H513N, H623N, H628N, H560N, H576NMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:88476166
GRCh38:
Chr10:86716409
LDB3Myofibrillar myopathy 4Likely benign
(Jul 12, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:88492696
GRCh38:
Chr10:86732939
LDB3P721H, P653H, P669H, P606H, P716HMyofibrillar myopathy 4Uncertain significance
(Jun 4, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:88439892
GRCh38:
Chr10:86680135
LDB3L100PMyofibrillar myopathy 4Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:88451837
GRCh38:
Chr10:86692080
LDB3Myofibrillar myopathy 4Likely benign
(Feb 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:88452272
GRCh38:
Chr10:86692515
LDB3Myofibrillar myopathy 4Likely benign
(Jul 21, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:88466294
GRCh38:
Chr10:86706537
LDB3Myofibrillar myopathy 4Likely benign
(Jul 19, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:88477746
GRCh38:
Chr10:86717989
LDB3R458C, R521C, R573C, R568C, R505CMyofibrillar myopathy 4Uncertain significance
(Nov 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:88477703
GRCh38:
Chr10:86717946
LDB3Myofibrillar myopathy 4Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:88441379
GRCh38:
Chr10:86681622
LDB3A170TMyofibrillar myopathy 4Likely benign
(Apr 22, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:88441196
GRCh38:
Chr10:86681439
LDB3P109SMyofibrillar myopathy 4Likely benign
(Feb 19, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:88428494
GRCh38:
Chr10:86668737
LDB3R16CMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:88451745-88451746
GRCh38:
Chr10:86691988-86691989
LDB3S227fs, S274fs, S342fsMyofibrillar myopathy 4Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:88477758
GRCh38:
Chr10:86718001
LDB3P462S, P525S, P572S, P509S, P577SMyofibrillar myopathy 4Uncertain significance
(Oct 14, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:88477889
GRCh38:
Chr10:86718132
LDB3Myofibrillar myopathy 4Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:88441487
GRCh38:
Chr10:86681730
LDB3T206AMyofibrillar myopathy 4Likely benign
(Jul 31, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:88441240
GRCh38:
Chr10:86681483
LDB3Myofibrillar myopathy 4Likely benign
(Jul 30, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:88469782
GRCh38:
Chr10:86710025
LDB3Myofibrillar myopathy 4Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:88476499
GRCh38:
Chr10:86716742
LDB3Myofibrillar myopathy 4Uncertain significance
(Jul 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:88459069
GRCh38:
Chr10:86699312
LDB3F264I, F379I, F311IMyofibrillar myopathy 4Uncertain significance
(Dec 30, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr10:88459058
GRCh38:
Chr10:86699301
LDB3N375T, N307T, N260TMyofibrillar myopathy 4Uncertain significance
(Jun 27, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:88441195
GRCh38:
Chr10:86681438
LDB3A110fsMyofibrillar myopathy 4Uncertain significance
(Nov 27, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr10:88466414
GRCh38:
Chr10:86706657
LDB3Myofibrillar myopathy 4Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:88478490
GRCh38:
Chr10:86718733
LDB3M559L, M512L, M622L, M575L, M627LMyofibrillar myopathy 4Uncertain significance
(Jun 19, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:88451685
GRCh38:
Chr10:86691928
LDB3S309N, S194N, S241NMyofibrillar myopathy 4Uncertain significance
(Jun 19, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:88441394
GRCh38:
Chr10:86681637
LDB3E175KMyofibrillar myopathy 4Likely benign
(Oct 19, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr10:88459108
GRCh38:
Chr10:86699351
LDB3Q277K, Q324K, Q392KMyofibrillar myopathy 4Uncertain significance
(Jun 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:88439256
GRCh38:
Chr10:86679499
LDB3Myofibrillar myopathy 4Likely benign
(Aug 7, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:88428537
GRCh38:
Chr10:86668780
LDB3S30CMyofibrillar myopathy 4Uncertain significance
(Jun 9, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr10:88476149
GRCh38:
Chr10:86716392
LDB3P438T, P370T, P386T, P323T, P433TMyofibrillar myopathy 4Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:88441341
GRCh38:
Chr10:86681584
LDB3E157GMyofibrillar myopathy 4Likely benign
(May 30, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:88477769
GRCh38:
Chr10:86718012
LDB3Myofibrillar myopathy 4Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:88441371
GRCh38:
Chr10:86681614
LDB3S167NMyofibrillar myopathy 4Likely benign
(May 16, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:88441188
GRCh38:
Chr10:86681431
LDB3Myofibrillar myopathy 4Likely benign
(May 14, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:88477789
GRCh38:
Chr10:86718032
LDB3T519I, T472I, T535I, T582I, T587IMyofibrillar myopathy 4Uncertain significance
(May 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr10:88492657
GRCh38:
Chr10:86732900
LDB3N593S, N656S, N703S, N640S, N708SMyofibrillar myopathy 4Uncertain significance
(Jun 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:88441436
GRCh38:
Chr10:86681679
LDB3S189AMyofibrillar myopathy 4Likely benign
(Jul 3, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:88477879
GRCh38:
Chr10:86718122
LDB3K565R, K502R, K612R, K549R, K617RMyofibrillar myopathy 4Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:88446949
GRCh38:
Chr10:86687192
LDB3, LOC110121486Myofibrillar myopathy 4Likely benign
(Apr 10, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:88492724
GRCh38:
Chr10:86732967
LDB3Myofibrillar myopathy 4Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr10:88439213
GRCh38:
Chr10:86679456
LDB3Myofibrillar myopathy 4Likely benign
(May 4, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:88469762
GRCh38:
Chr10:86710005
LDB3R401G, R396G, R286G, R333G, R349GMyofibrillar myopathy 4Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:88486027
GRCh38:
Chr10:86726270
LDB3Myofibrillar myopathy 4Likely benign
(Feb 7, 2022)
criteria provided, single submitter
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