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Items: 1 to 100 of 119

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
NEXNDilated cardiomyopathy 1CCPathogenic
(Nov 1, 2009)
no assertion criteria provided
2.
GRCh37:
Chr1:78354439
GRCh38:
Chr1:77888754
NEXN, NEXN-AS1not specifiedBenign
(Feb 24, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr1:78381724
GRCh38:
Chr1:77916039
NEXNnot specifiedGMAF:0.00040(C)Benign
(Sep 17, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr1:78381758
GRCh38:
Chr1:77916073
NEXNnot specifiedBenign
(Jun 23, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr1:78381782
GRCh38:
Chr1:77916097
NEXNnot specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr1:78383285
GRCh38:
Chr1:77917600
NEXNnot specifiedUncertain significance
(Jul 9, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr1:78383309
GRCh38:
Chr1:77917624
NEXNnot specifiedUncertain significance
(Jan 19, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr1:78383379
GRCh38:
Chr1:77917694
NEXNnot specifiedBenign
(Mar 21, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr1:78383645
GRCh38:
Chr1:77917960
NEXNnot specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr1:78383647
GRCh38:
Chr1:77917962
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20Likely benign
(Dec 19, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:78383662
GRCh38:
Chr1:77917977
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20, not specified
Likely benign
(Mar 14, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:78383667
GRCh38:
Chr1:77917982
NEXNnot specifiedUncertain significance
(Feb 5, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:78383674
GRCh38:
Chr1:77917989
NEXNnot specified, not providedGO-ESP:0.00009(A)Conflicting interpretations of pathogenicity
(May 4, 2015)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:78383674
GRCh38:
Chr1:77917989
NEXNnot specifiedUncertain significance
(Nov 5, 2012)
criteria provided, single submitter
15.
GRCh37:
Chr1:78383733
GRCh38:
Chr1:77918048
NEXNnot specifiedLikely benign
(Mar 20, 2012)
criteria provided, single submitter
16.
GRCh37:
Chr1:78383796
GRCh38:
Chr1:77918111
NEXNnot specifiedLikely benign
(Feb 2, 2012)
criteria provided, single submitter
17.
GRCh37:
Chr1:78383807
GRCh38:
Chr1:77918122
NEXNnot specifiedUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr1:78383852-78383853
GRCh38:
Chr1:77918167-77918168
NEXNnot specifiedUncertain significance
(Jul 14, 2014)
criteria provided, single submitter
19.
GRCh37:
Chr1:78383874
GRCh38:
Chr1:77918189
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20, not specified
GO-ESP:0.01339(A)
GMAF:0.01280(A)
Benign
(Feb 10, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr1:78383890
GRCh38:
Chr1:77918205
NEXNnot specifiedUncertain significance
(Jun 9, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr1:78383902
GRCh38:
Chr1:77918217
NEXNFamilial hypertrophic cardiomyopathy 20Pathogenic
(Nov 12, 2010)
no assertion criteria provided
22.
GRCh37:
Chr1:78383903
GRCh38:
Chr1:77918218
NEXNCardiomyopathy, not specifiedConflicting interpretations of pathogenicity
(May 21, 2014)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr1:78383953
GRCh38:
Chr1:77918268
NEXNnot specifiedUncertain significance
(Jan 11, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr1:78383963
GRCh38:
Chr1:77918278
NEXNnot specifiedUncertain significance
(Jan 28, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr1:78390886-78390889
GRCh38:
Chr1:77925201-77925204
NEXNnot providedPathogenic
(Apr 8, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr1:78392121
GRCh38:
Chr1:77926436
NEXNnot specifiedGMAF:0.00180(C)Conflicting interpretations of pathogenicity
(Jan 4, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr1:78392151
GRCh38:
Chr1:77926466
NEXNnot specifiedUncertain significance
(May 14, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr1:78392180
GRCh38:
Chr1:77926495
NEXNnot specifiedUncertain significance
(Mar 26, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr1:78392195
GRCh38:
Chr1:77926510
NEXNnot specifiedUncertain significance
(Jun 12, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr1:78392222
GRCh38:
Chr1:77926537
NEXNnot specifiedGMAF:0.00040(A)Uncertain significance
(May 6, 2015)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:78392286
GRCh38:
Chr1:77926601
NEXNnot specifiedUncertain significance
(Feb 8, 2012)
criteria provided, single submitter
32.
GRCh37:
Chr1:78392300
GRCh38:
Chr1:77926615
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20Uncertain significance
(Mar 10, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:78392316
GRCh38:
Chr1:77926631
NEXNCardiomyopathyBenign
(Nov 28, 2012)
criteria provided, single submitter
34.
GRCh37:
Chr1:78392391
GRCh38:
Chr1:77926706
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20Likely benign
(Feb 24, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:78392445
GRCh38:
Chr1:77926760
NEXNnot specifiedGO-ESP:0.00051(A)Benign/Likely benign
(Dec 17, 2015)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:78392446
GRCh38:
Chr1:77926761
NEXNnot specifiedGO-ESP:0.15781(A)
GMAF:0.15080(A)
Benign
(Jan 31, 2013)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr1:78392490
GRCh38:
Chr1:77926805
NEXNnot specifiedGO-ESP:0.00093(G)
GMAF:0.00120(G)
Likely benign
(Jul 18, 2012)
criteria provided, single submitter
38.
GRCh37:
Chr1:78392548
GRCh38:
Chr1:77926863
NEXNPrimary familial hypertrophic cardiomyopathy, Familial hypertrophic cardiomyopathy 20, not specified
GMAF:0.00120(T)Conflicting interpretations of pathogenicity
(Jan 30, 2014)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr1:78392549
GRCh38:
Chr1:77926864
NEXNnot specifiedUncertain significance
(Feb 12, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr1:78392569
GRCh38:
Chr1:77926884
NEXNnot specifiedUncertain significance
(May 11, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:78392577
GRCh38:
Chr1:77926892
NEXNnot specifiedUncertain significance
(Apr 3, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr1:78392589
GRCh38:
Chr1:77926904
NEXNnot specifiedGO-ESP:0.00110(A)
GMAF:0.00080(A)
Benign/Likely benign
(Nov 13, 2014)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:78394996
GRCh38:
Chr1:77929311
NEXNPrimary dilated cardiomyopathy, not specifiedUncertain significance
(Nov 24, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr1:78395010
GRCh38:
Chr1:77929325
NEXNnot specifiedUncertain significance
(Oct 9, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr1:78395029
GRCh38:
Chr1:77929344
NEXNnot specifiedGO-ESP:0.00034(G)Uncertain significance
(Sep 9, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr1:78395085
GRCh38:
Chr1:77929400
NEXNnot specifiedGMAF:0.00100(C)Likely benign
(Apr 26, 2013)
criteria provided, single submitter
47.
GRCh37:
Chr1:78395131-78395133
GRCh38:
Chr1:77929446-77929448
NEXNnot specifiedUncertain significance
(Aug 12, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr1:78395131
GRCh38:
Chr1:77929446
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20, not specified
GO-ESP:0.00202(C)
GMAF:0.00320(C)
Conflicting interpretations of pathogenicity
(Dec 18, 2015)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr1:78395138-78395140
GRCh38:
Chr1:77929453-77929455
NEXNnot specifiedUncertain significance
(May 27, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr1:78395146
GRCh38:
Chr1:77929461
NEXNnot specifiedUncertain significance
(Jun 20, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr1:78395164
GRCh38:
Chr1:77929479
NEXNnot specifiedUncertain significance
(May 19, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:78395165
GRCh38:
Chr1:77929480
NEXNnot specifiedGMAF:0.00040(A)Likely benign
(Jul 5, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr1:78395190
GRCh38:
Chr1:77929505
NEXNPrimary familial hypertrophic cardiomyopathy, not specifiedUncertain significance
(Sep 22, 2015)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:78398978
GRCh38:
Chr1:77933293
NEXNnot specifiedGMAF:0.00020(C)Likely benign
(May 1, 2013)
criteria provided, single submitter
55.
GRCh37:
Chr1:78399002
GRCh38:
Chr1:77933317
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20Likely benign
(Jan 1, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:78399007
GRCh38:
Chr1:77933322
NEXNnot specifiedUncertain significance
(Nov 27, 2013)
criteria provided, single submitter
57.
GRCh37:
Chr1:78399025
GRCh38:
Chr1:77933340
NEXNCardiomyopathy, not specifiedGMAF:0.00020(T)Uncertain significance
(Jul 2, 2015)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:78399087
GRCh38:
Chr1:77933402
NEXNnot specifiedUncertain significance
(Apr 23, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr1:78399094-78399095
GRCh38:
Chr1:77933409-77933410
NEXNnot specifiedUncertain significance
(Jan 22, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr1:78399103
GRCh38:
Chr1:77933418
NEXNnot specifiedUncertain significance
(Jul 2, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr1:78399135
GRCh38:
Chr1:77933450
NEXNCardiomyopathyUncertain significance
(Apr 10, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr1:78399147
GRCh38:
Chr1:77933462
NEXNnot specifiedUncertain significance
(May 16, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr1:78401498
GRCh38:
Chr1:77935813
NEXNnot specifiedGMAF:0.00020(G)Uncertain significance
(Oct 23, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:78401503
GRCh38:
Chr1:77935818
NEXNnot providedUncertain significance
(Jan 9, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr1:78401527
GRCh38:
Chr1:77935842
NEXNnot specifiedUncertain significance
(Jul 12, 2013)
criteria provided, single submitter
66.
GRCh37:
Chr1:78401622
GRCh38:
Chr1:77935937
NEXNnot specifiedGMAF:0.00020(A)Uncertain significance
(Aug 30, 2012)
criteria provided, single submitter
67.
GRCh37:
Chr1:78401624
GRCh38:
Chr1:77935939
NEXNnot specifiedLikely benign
(Aug 16, 2012)
criteria provided, single submitter
68.
GRCh37:
Chr1:78401656
GRCh38:
Chr1:77935971
NEXNPrimary familial hypertrophic cardiomyopathyUncertain significance
(Oct 9, 2015)
criteria provided, single submitter
69.
GRCh37:
Chr1:78401663-78401665
GRCh38:
Chr1:77935978-77935980
NEXNnot specifiedUncertain significance
(Jul 9, 2015)
criteria provided, single submitter
70.
GRCh37:
Chr1:78401664
GRCh38:
Chr1:77935979
NEXNDilated cardiomyopathy 1CC, Familial hypertrophic cardiomyopathy 20, not specified
GMAF:0.00240(C)Benign
(Sep 11, 2015)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:78401671
GRCh38:
Chr1:77935986
NEXNnot specifiedUncertain significance
(Apr 1, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr1:78401675-78401677
GRCh38:
Chr1:77935990-77935992
NEXNnot specifiedUncertain significance
(May 14, 2014)
criteria provided, single submitter
73.
GRCh37:
Chr1:78401686
GRCh38:
Chr1:77936001
NEXNCardiomyopathyUncertain significance
(Oct 13, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr1:78401686
GRCh38:
Chr1:77936001
NEXNnot specifiedUncertain significance
(Mar 7, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr1:78401691
GRCh38:
Chr1:77936006
NEXNnot specifiedGMAF:0.00060(T)Uncertain significance
(Apr 21, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr1:78401701-78401702
GRCh38:
Chr1:77936016-77936017
NEXNnot providedPathogenic
(Jun 6, 2014)
criteria provided, single submitter
77.
GRCh37:
Chr1:78401709
GRCh38:
Chr1:77936024
NEXNnot specifiedGO-ESP:0.00017(A)Uncertain significance
(Feb 13, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr1:78401713
GRCh38:
Chr1:77936028
NEXNnot specifiedUncertain significance
(Jul 18, 2012)
criteria provided, single submitter
79.
GRCh37:
Chr1:78401727
GRCh38:
Chr1:77936042
NEXNnot specifiedUncertain significance
(Nov 11, 2013)
criteria provided, single submitter
80.
GRCh37:
Chr1:78407762
GRCh38:
Chr1:77942077
NEXNnot specifiedUncertain significance
(Sep 19, 2013)
criteria provided, single submitter
81.
GRCh37:
Chr1:78407799
GRCh38:
Chr1:77942114
NEXNCardiomyopathyUncertain significance
(Jun 17, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr1:78407816-78407818
GRCh38:
Chr1:77942131-77942133
NEXNnot specified, not providedUncertain significance
(Feb 24, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:78407816
GRCh38:
Chr1:77942131
NEXNnot specifiedGMAF:0.00020(C)Likely benign
(Nov 27, 2015)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr1:78407823-78407824
GRCh38:
Chr1:77942138-77942139
NEXNLeft ventricular noncompaction cardiomyopathyUncertain significance
(Nov 25, 2015)
criteria provided, single submitter
85.
GRCh37:
Chr1:78407829
GRCh38:
Chr1:77942144
NEXNnot specifiedUncertain significance
(Nov 10, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr1:78407849
GRCh38:
Chr1:77942164
NEXNnot specifiedUncertain significance
(Jan 11, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr1:78407852
GRCh38:
Chr1:77942167
NEXNnot specifiedGMAF:0.00140(G)Conflicting interpretations of pathogenicity
(Dec 24, 2015)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr1:78407864
GRCh38:
Chr1:77942179
NEXNPrimary dilated cardiomyopathyUncertain significance
(Sep 29, 2014)
no assertion criteria provided
89.
GRCh37:
Chr1:78407874
GRCh38:
Chr1:77942189
NEXNnot specifiedUncertain significance
(Apr 13, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr1:78407887
GRCh38:
Chr1:77942202
NEXNnot providedUncertain significance
(Jan 8, 2015)
criteria provided, single submitter
91.
GRCh37:
Chr1:78407911
GRCh38:
Chr1:77942226
NEXNnot specifiedGMAF:0.00120(G)Benign
(Jun 6, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr1:78408135-78408139
GRCh38:
Chr1:77942450-77942454
NEXNnot specifiedUncertain significance
(Apr 3, 2013)
criteria provided, single submitter
93.
GRCh37:
Chr1:78408163-78408168
GRCh38:
Chr1:77942478-77942483
NEXNnot specifiedUncertain significance
(Sep 23, 2015)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:78408166-78408168
GRCh38:
Chr1:77942481-77942483
NEXNCardiomyopathyUncertain significance
(Dec 10, 2012)
criteria provided, single submitter
95.
GRCh37:
Chr1:78408166-78408168
GRCh38:
Chr1:77942481-77942483
NEXNCardiomyopathy, not specifiedUncertain significance
(Apr 23, 2014)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:78408170
GRCh38:
Chr1:77942485
NEXNnot specifiedUncertain significance
(Jun 26, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr1:78408190
GRCh38:
Chr1:77942505
NEXNnot specifiedLikely benign
(Apr 18, 2012)
criteria provided, single submitter
98.
GRCh37:
Chr1:78408219
GRCh38:
Chr1:77942534
NEXNnot specifiedUncertain significance
(Jul 9, 2013)
criteria provided, single submitter
99.
GRCh37:
Chr1:78408242-78408244
GRCh38:
Chr1:77942557-77942559
NEXNnot specifiedUncertain significance
(May 31, 2012)
criteria provided, single submitter
100.
GRCh37:
Chr1:78408259
GRCh38:
Chr1:77942574
NEXNnot specifiedLikely benign
(Sep 12, 2014)
criteria provided, single submitter
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