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Items: 1 to 100 of 135

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:88428434
GRCh38:
Chr10:86668677
LDB3not specifiedGMAF:0.00060(A)Uncertain significance
(May 20, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr10:88428458
GRCh38:
Chr10:86668701
LDB3not specifiedUncertain significance
(Oct 6, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr10:88428542
GRCh38:
Chr10:86668785
LDB3not specifiedUncertain significance
(May 1, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr10:88428548
GRCh38:
Chr10:86668791
LDB3not specifiedLikely benign
(Nov 7, 2008)
criteria provided, single submitter
5.
GRCh37:
Chr10:88439169
GRCh38:
Chr10:86679412
LDB3not specifiedUncertain significance
(May 24, 2012)
criteria provided, single submitter
6.
GRCh37:
Chr10:88439174
GRCh38:
Chr10:86679417
LDB3not specifiedLikely benign
(Jul 31, 2012)
criteria provided, single submitter
7.
GRCh37:
Chr10:88439177
GRCh38:
Chr10:86679420
LDB3not specifiedGO-ESP:0.00261(A)
GMAF:0.00080(A)
Benign/Likely benign
(Feb 13, 2015)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:88439189
GRCh38:
Chr10:86679432
LDB3not specifiedGMAF:0.00020(T)Likely benign
(Mar 5, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr10:88439193
GRCh38:
Chr10:86679436
LDB3not specifiedGO-ESP:0.00108(A)
GMAF:0.01880(A)
Benign
(Jun 24, 2013)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr10:88439230
GRCh38:
Chr10:86679473
LDB3not specifiedUncertain significance
(Apr 5, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr10:88439266
GRCh38:
Chr10:86679509
LDB3not specifiedUncertain significance
(Oct 15, 2009)
no assertion criteria provided
12.
GRCh37:
Chr10:88439866
GRCh38:
Chr10:86680109
LDB3not specifiedGO-ESP:0.00023(A)
GMAF:0.00440(A)
Benign
(Apr 28, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr10:88439888
GRCh38:
Chr10:86680131
LDB3not specifiedGMAF:0.00080(T)Benign
(Dec 31, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr10:88439895
GRCh38:
Chr10:86680138
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.01023(T)
GMAF:0.01120(T)
Benign
(Jan 27, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:88441214
GRCh38:
Chr10:86681457
LDB3not specifiedUncertain significance
(Jan 5, 2012)
criteria provided, single submitter
16.
GRCh37:
Chr10:88441223
GRCh38:
Chr10:86681466
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00516(A)
GMAF:0.00160(A)
Benign/Likely benign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:88441227
GRCh38:
Chr10:86681470
LDB3not specifiedUncertain significance
(Aug 4, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr10:88441336
GRCh38:
Chr10:86681579
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGMAF:0.00020(T)Benign
(Feb 25, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:88441364
GRCh38:
Chr10:86681607
LDB3not specified, not providedGMAF:0.00040(T)Likely benign
(Apr 9, 2014)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:88441400
GRCh38:
Chr10:86681643
LDB3not specified, not providedUncertain significance
(Aug 11, 2014)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:88441401
GRCh38:
Chr10:86681644
LDB3not specifiedUncertain significance
(Oct 15, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr10:88441401
GRCh38:
Chr10:86681644
LDB3not specifiedUncertain significance
(Sep 8, 2008)
no assertion criteria provided
23.
GRCh37:
Chr10:88441437
GRCh38:
Chr10:86681680
LDB3Dilated cardiomyopathy 1C, Myofibrillar myopathy, ZASP-related, not specified,
not provided, Familial hypertrophic cardiomyopathy 24
GO-ESP:0.00015(T)
GMAF:0.00060(T)
Conflicting interpretations of pathogenicity
(Mar 13, 2016)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr10:88441447
GRCh38:
Chr10:86681690
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00600(T)
GMAF:0.00640(T)
Benign
(Mar 29, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:88441447
GRCh38:
Chr10:86681690
LDB3not specifiedGMAF:0.00640(T)Benign
(Sep 12, 2014)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:88441471
GRCh38:
Chr10:86681714
LDB3not specifiedLikely benign
(Dec 27, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr10:88441480
GRCh38:
Chr10:86681723
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.01699(A)
GMAF:0.01440(A)
Benign
(Mar 13, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:88441526
GRCh38:
Chr10:86681769
LDB3not specifiedUncertain significance
(Apr 16, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr10:88441527
GRCh38:
Chr10:86681770
LDB3not specifiedGMAF:0.00020(A)Uncertain significance
(Apr 4, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr10:88441535
GRCh38:
Chr10:86681778
LDB3not specifiedGO-ESP:0.00038(A)Uncertain significance
(Aug 13, 2015)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:88441539
GRCh38:
Chr10:86681782
LDB3not specifiedLikely benign
(Apr 18, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr10:88441569
GRCh38:
Chr10:86681812
LDB3not specifiedLikely benign
(Mar 14, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr10:88441570
GRCh38:
Chr10:86681813
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00146(A)
GMAF:0.00020(A)
Likely benign
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:88441575
GRCh38:
Chr10:86681818
LDB3not specifiedGO-ESP:0.00008(C)Likely benign
(Mar 19, 2012)
criteria provided, single submitter
35.
GRCh37:
Chr10:88445421
GRCh38:
Chr10:86685664
LDB3not specifiedLikely benign
(Jun 11, 2015)
criteria provided, single submitter
36.
GRCh37:
Chr10:88445437
GRCh38:
Chr10:86685680
LDB3not specifiedLikely benign
(Aug 13, 2010)
criteria provided, single submitter
37.
GRCh37:
Chr10:88445440
GRCh38:
Chr10:86685683
LDB3not specifiedLikely benign
(Jun 9, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr10:88446811
GRCh38:
Chr10:86687054
LDB3not specifiedGMAF:0.06130(A)Likely benign
(Jan 23, 2013)
criteria provided, single submitter
39.
GRCh37:
Chr10:88446811
GRCh38:
Chr10:86687054
LDB3not specifiedGO-ESP:0.07176(A)
GMAF:0.06130(A)
Benign
(Sep 19, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr10:88446821
GRCh38:
Chr10:86687064
LDB3not specifiedGMAF:0.00020(T)Likely benign
(Aug 26, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr10:88446829
GRCh38:
Chr10:86687072
LDB3not specifiedLikely benign
(May 5, 2011)
criteria provided, single submitter
42.
GRCh37:
Chr10:88446830
GRCh38:
Chr10:86687073
LDB3Dilated cardiomyopathy 1C, Myofibrillar myopathy, ZASP-related, not specified,
not provided, Dilated cardiomyopathy
GO-ESP:0.00677(A)
GMAF:0.00780(A)
Conflicting interpretations of pathogenicity
(Apr 1, 2016)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr10:88446896
GRCh38:
Chr10:86687139
LDB3not specified, not providedGMAF:0.00020(A)Uncertain significance
(Dec 31, 2014)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:88446937
GRCh38:
Chr10:86687180
LDB3not specifiedGO-ESP:0.00008(A)
GMAF:0.00120(A)
Likely benign
(Feb 2, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr10:88446937
GRCh38:
Chr10:86687180
LDB3not specifiedGMAF:0.00120(A)Likely benign
(Aug 20, 2010)
criteria provided, single submitter
46.
GRCh37:
Chr10:88446975
GRCh38:
Chr10:86687218
LDB3Primary dilated cardiomyopathy, Myofibrillar myopathy, ZASP-related, Myofibrillar myopathy
Pathogenic
(Aug 16, 2016)
no assertion criteria provided
47.
GRCh37:
Chr10:88446985
GRCh38:
Chr10:86687228
LDB3not specifiedGO-ESP:0.07298(C)
GMAF:0.05670(C)
Benign
(Jun 9, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr10:88446992
GRCh38:
Chr10:86687235
LDB3not specifiedUncertain significance
(Apr 9, 2013)
criteria provided, single submitter
49.
GRCh37:
Chr10:88447027
GRCh38:
Chr10:86687270
LDB3not specifiedGO-ESP:0.00320(C)
GMAF:0.00340(C)
Benign
(Apr 9, 2012)
criteria provided, single submitter
50.
GRCh37:
Chr10:88451649
GRCh38:
Chr10:86691892
LDB3Cardiomyopathy, not specifiedGO-ESP:0.00484(G)
GMAF:0.00620(G)
Benign/Likely benign
(Feb 19, 2015)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr10:88451677
GRCh38:
Chr10:86691920
LDB3not specifiedLikely benign
(Dec 20, 2013)
criteria provided, single submitter
52.
GRCh37:
Chr10:88451695
GRCh38:
Chr10:86691938
LDB3not specifiedGO-ESP:0.00069(T)Likely benign
(Apr 12, 2012)
criteria provided, single submitter
53.
GRCh37:
Chr10:88451696
GRCh38:
Chr10:86691939
LDB3not specifiedGMAF:0.00020(A)Uncertain significance
(Nov 29, 2013)
criteria provided, single submitter
54.
GRCh37:
Chr10:88451715
GRCh38:
Chr10:86691958
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.01699(G)
GMAF:0.01720(G)
Benign
(Nov 2, 2015)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:88451752
GRCh38:
Chr10:86691995
LDB3not specifiedUncertain significance
(Feb 3, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr10:88451756
GRCh38:
Chr10:86691999
LDB3not specified, not providedGO-ESP:0.00008(T)
GMAF:0.00040(T)
Uncertain significance
(Sep 19, 2014)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:88451789
GRCh38:
Chr10:86692032
LDB3not specifiedUncertain significance
(Apr 20, 2009)
no assertion criteria provided
58.
GRCh37:
Chr10:88451808
GRCh38:
Chr10:86692051
LDB3not specifiedGMAF:0.00020(T)Uncertain significance
(Jun 25, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr10:88451825
GRCh38:
Chr10:86692068
LDB3not specifiedUncertain significance
(Dec 5, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr10:88452270-88452280
GRCh38:
Chr10:86692513-86692523
LDB3not specifiedUncertain significance
(Jun 14, 2013)
criteria provided, single submitter
61.
GRCh37:
Chr10:88452277
GRCh38:
Chr10:86692520
LDB3not specifiedUncertain significance
(Jan 2, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr10:88452299
GRCh38:
Chr10:86692542
LDB3not specifiedLikely benign
(Oct 17, 2012)
criteria provided, single submitter
63.
GRCh37:
Chr10:88459020-88459025
GRCh38:
Chr10:86699263-86699268
LDB3not specifiedLikely benign
(Oct 20, 2011)
criteria provided, single submitter
64.
GRCh37:
Chr10:88459022-88459025
GRCh38:
Chr10:86699265-86699268
LDB3not specifiedBenign
(Aug 22, 2008)
criteria provided, single submitter
65.
GRCh37:
Chr10:88459022-88459025
GRCh38:
Chr10:86699265-86699268
LDB3not specifiedLikely benign
(Oct 12, 2011)
criteria provided, single submitter
66.
GRCh37:
Chr10:88459024-88459025
GRCh38:
Chr10:86699267-86699268
LDB3not specifiedBenign
(Aug 22, 2008)
criteria provided, single submitter
67.
GRCh37:
Chr10:88459024-88459025
GRCh38:
Chr10:86699267-86699268
LDB3not specifiednot provided
(Jul 10, 2014)
no assertion provided
68.
GRCh37:
Chr10:88459050
GRCh38:
Chr10:86699293
LDB3not specifiedGO-ESP:0.00008(A)
GMAF:0.00080(A)
Benign
(Apr 4, 2015)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:88459054
GRCh38:
Chr10:86699297
LDB3not specifiedUncertain significance
(Jul 12, 2012)
criteria provided, single submitter
70.
GRCh37:
Chr10:88459059
GRCh38:
Chr10:86699302
LDB3not specifiedBenign/Likely benign
(Mar 19, 2014)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr10:88459081
GRCh38:
Chr10:86699324
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00008(T)Conflicting interpretations of pathogenicity
(Jul 10, 2014)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr10:88466274
GRCh38:
Chr10:86706517
LDB3not specifiedLikely benign
(Mar 30, 2015)
criteria provided, single submitter
73.
GRCh37:
Chr10:88466278
GRCh38:
Chr10:86706521
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGMAF:0.00020(A)Conflicting interpretations of pathogenicity
(Jan 29, 2016)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr10:88466290
GRCh38:
Chr10:86706533
LDB3not specifiedUncertain significance
(Apr 26, 2012)
criteria provided, single submitter
75.
GRCh37:
Chr10:88466345
GRCh38:
Chr10:86706588
LDB3not specifiedGO-ESP:0.00154(T)
GMAF:0.00100(T)
Benign
(Apr 18, 2012)
criteria provided, single submitter
76.
GRCh37:
Chr10:88466382
GRCh38:
Chr10:86706625
LDB3not specifiedUncertain significance
(Nov 12, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr10:88466384
GRCh38:
Chr10:86706627
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00138(A)Benign/Likely benign
(Mar 3, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:88466405
GRCh38:
Chr10:86706648
LDB3not specifiedGO-ESP:0.00415(G)
GMAF:0.00360(G)
Benign
(Apr 11, 2012)
criteria provided, single submitter
79.
GRCh37:
Chr10:88466407
GRCh38:
Chr10:86706650
LDB3not specifiedUncertain significance
(Apr 1, 2015)
criteria provided, single submitter
80.
GRCh37:
Chr10:88466408
GRCh38:
Chr10:86706651
LDB3not specifiedLikely benign
(Apr 26, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr10:88466426
GRCh38:
Chr10:86706669
LDB3not specifiedGO-ESP:0.00069(T)Benign/Likely benign
(Nov 6, 2014)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:88466427
GRCh38:
Chr10:86706670
LDB3not specifiedGMAF:0.00020(A)Uncertain significance
(Jun 8, 2015)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr10:88466432
GRCh38:
Chr10:86706675
LDB3not specifiedGMAF:0.05690(A)Likely benign
(May 31, 2012)
criteria provided, single submitter
84.
GRCh37:
Chr10:88466432
GRCh38:
Chr10:86706675
LDB3Cardiomyopathy, not specifiedGO-ESP:0.04990(A)
GMAF:0.05690(A)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:88466436
GRCh38:
Chr10:86706679
LDB3not specifiedGMAF:0.00060(A)Uncertain significance
(Nov 19, 2015)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:88466442
GRCh38:
Chr10:86706685
LDB3Primary dilated cardiomyopathy, not specifiedGO-ESP:0.00038(G)
GMAF:0.00040(G)
Conflicting interpretations of pathogenicity
(Oct 2, 2015)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr10:88466462
GRCh38:
Chr10:86706705
LDB3not specifiedLikely benign
(Sep 10, 2015)
criteria provided, single submitter
88.
GRCh37:
Chr10:88466465
GRCh38:
Chr10:86706708
LDB3Cardiomyopathy, not specifiedGO-ESP:0.02701(T)
GMAF:0.02020(T)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:88469687
GRCh38:
Chr10:86709930
LDB3not specified, not providedGO-ESP:0.00038(A)
GMAF:0.00060(A)
Likely benign
(Sep 25, 2015)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:88469729
GRCh38:
Chr10:86709972
LDB3not specifiedUncertain significance
(Oct 1, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr10:88469743
GRCh38:
Chr10:86709986
LDB3Myofibrillar myopathy, ZASP-related, not specifiedBenign/Likely benign
(Jan 7, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:88476115
GRCh38:
Chr10:86716358
LDB3Myofibrillar myopathy, ZASP-related, not specifiedGO-ESP:0.00315(A)
GMAF:0.00280(A)
Benign
(Nov 27, 2015)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr10:88476169
GRCh38:
Chr10:86716412
LDB3not specifiedLikely benign
(Jan 23, 2013)
criteria provided, single submitter
94.
GRCh37:
Chr10:88476172-88476195
GRCh38:
Chr10:86716415-86716438
LDB3not specifiedUncertain significance
(Sep 9, 2008)
no assertion criteria provided
95.
GRCh37:
Chr10:88476172-88476195
GRCh38:
Chr10:86716415-86716438
LDB3not specifiedUncertain significance
(Apr 11, 2012)
criteria provided, single submitter
96.
GRCh37:
Chr10:88476187
GRCh38:
Chr10:86716430
LDB3not specifiedBenign/Likely benign
(Aug 21, 2014)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:88476191
GRCh38:
Chr10:86716434
LDB3not specified, not providedUncertain significance
(Apr 2, 2014)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:88476274
GRCh38:
Chr10:86716517
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.00200(A)
GMAF:0.00040(A)
Benign/Likely benign
(Mar 10, 2016)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:88476305
GRCh38:
Chr10:86716548
LDB3not specifiedUncertain significance
(Sep 24, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr10:88476312
GRCh38:
Chr10:86716555
LDB3Myofibrillar myopathy, ZASP-related, not specified, not provided
GO-ESP:0.00154(A)
GMAF:0.00160(A)
Benign/Likely benign
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
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