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Links from MedGen

Items: 1 to 100 of 357

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:78408152-78408157
GRCh38:
Chr1:77942467-77942472
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(May 25, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr1:78383873
GRCh38:
Chr1:77918188
LOC126805765, NEXNT121K, T57KHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:78398947-78401749
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:78401489-78401490
GRCh38:
Chr1:77935804-77935805
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(May 5, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr1:78383329
GRCh38:
Chr1:77917644
NEXNE36KHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jul 4, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr1:78383856
GRCh38:
Chr1:77918171
LOC126805765, NEXNE115D, E51DDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Dec 17, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:78399075
GRCh38:
Chr1:77933390
NEXNE324K, E388KDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(May 2, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:78399025
GRCh38:
Chr1:77933340
NEXNP371Q, P307QHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:78399113
GRCh38:
Chr1:77933428
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Feb 22, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:78392221
GRCh38:
Chr1:77926536
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Jul 13, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:78407743
GRCh38:
Chr1:77942058
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Aug 30, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:78398997
GRCh38:
Chr1:77933312
NEXNK362Q, K298QDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:78392400
GRCh38:
Chr1:77926715
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely pathogenic
(Jul 5, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:78392588
GRCh38:
Chr1:77926903
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Jun 21, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:78408238
GRCh38:
Chr1:77942553
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Mar 12, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:78407893
GRCh38:
Chr1:77942208
NEXNK489N, K553NDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Jan 28, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:78392133
GRCh38:
Chr1:77926448
NEXNP175R, P111RDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Jan 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:78383628
GRCh38:
Chr1:77917943
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(May 21, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:78398997
GRCh38:
Chr1:77933312
NEXNK298*, K362*Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCPathogenic
(May 3, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:78408445
GRCh38:
Chr1:77942760
NEXNM653I, M589IHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:78407767-78407768
GRCh38:
Chr1:77942082-77942083
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:78407735
GRCh38:
Chr1:77942050
NEXNR437*, R501*Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Pathogenic
(Apr 25, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:78401639
GRCh38:
Chr1:77935954
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Apr 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:78392084
GRCh38:
Chr1:77926399
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Oct 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:78392283
GRCh38:
Chr1:77926598
NEXNS162fs, S226fsDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Pathogenic
(Mar 28, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:78407901
GRCh38:
Chr1:77942216
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Mar 25, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:78392423-78392424
GRCh38:
Chr1:77926738-77926739
NEXNE240fs, E176fsDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Pathogenic
(Apr 16, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:78408414
GRCh38:
Chr1:77942729
NEXNT580fs, T644fsDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:78392515
GRCh38:
Chr1:77926830
NEXNE204Q, E268QHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:78407811-78407820
GRCh38:
Chr1:77942126-77942135
NEXNQ465fs, Q529fsHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(May 21, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:78399001
GRCh38:
Chr1:77933316
NEXNT299I, T363IDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:78392443
GRCh38:
Chr1:77926758
NEXNP180S, P244SCardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Uncertain significance
(Nov 27, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:78390892
GRCh38:
Chr1:77925207
NEXNT92M, T156MHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:78407759
GRCh38:
Chr1:77942074
NEXNH445N, H509NHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr1:78407895
GRCh38:
Chr1:77942210
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:78392192-78392197
GRCh38:
Chr1:77926507-77926512
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:78383239
GRCh38:
Chr1:77917554
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Oct 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:78401667
GRCh38:
Chr1:77935982
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Sep 27, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:78392260
GRCh38:
Chr1:77926575
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Aug 20, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:78383825
GRCh38:
Chr1:77918140
LOC126805765, NEXNR105T, R41THypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr1:78383862-78383865
GRCh38:
Chr1:77918177-77918180
LOC126805765, NEXNK119fs, K55fsHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCPathogenic
(Oct 17, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:78395185
GRCh38:
Chr1:77929500
NEXNN350S, N286SHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr1:78399095
GRCh38:
Chr1:77933410
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Jul 13, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:78408353
GRCh38:
Chr1:77942668
NEXNQ623E, Q559EHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:78392474
GRCh38:
Chr1:77926789
NEXNL254P, L190PHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jul 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:78408372
GRCh38:
Chr1:77942687
NEXNQ565R, Q629RHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(May 20, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:78399079
GRCh38:
Chr1:77933394
NEXNK390fs, K326fsDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Pathogenic
(May 12, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:78408315
GRCh38:
Chr1:77942630
NEXNK610R, K546RHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:78392302
GRCh38:
Chr1:77926617
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:78401630
GRCh38:
Chr1:77935945
NEXNL458F, L394FHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:78392085
GRCh38:
Chr1:77926400
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Sep 19, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:78407690
GRCh38:
Chr1:77942005
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(May 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:78392502
GRCh38:
Chr1:77926817
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Feb 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:78383930
GRCh38:
Chr1:77918245
LOC126805765, NEXNQ140R, Q76RHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:78408325
GRCh38:
Chr1:77942640
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Jul 13, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:78383969
GRCh38:
Chr1:77918284
LOC126805765, NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Aug 31, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:78395148
GRCh38:
Chr1:77929463
NEXNE274Q, E338QDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Jul 28, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:78383270
GRCh38:
Chr1:77917585
NEXNK16THypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:78383732
GRCh38:
Chr1:77918047
LOC126805765, NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(May 18, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:78399155
GRCh38:
Chr1:77933470
NEXNE350D, E414DDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Apr 13, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:78395070
GRCh38:
Chr1:77929385
NEXNL312F, L248FHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:78399026
GRCh38:
Chr1:77933341
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jul 21, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:78383672
GRCh38:
Chr1:77917987
NEXNE83K, E19KCardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Uncertain significance
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:78408275
GRCh38:
Chr1:77942590
NEXNE533K, E597KCardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Uncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:78407802
GRCh38:
Chr1:77942117
NEXNA459V, A523VCardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Uncertain significance
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:78392131
GRCh38:
Chr1:77926446
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
Likely benign
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:78383927
GRCh38:
Chr1:77918242
LOC126805765, NEXNI139T, I75THypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
Uncertain significance
(Dec 23, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:78383873
GRCh38:
Chr1:77918188
LOC126805765, NEXNT57M, T121MHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
Uncertain significance
(Apr 11, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:78401706
GRCh38:
Chr1:77936021
NEXNR420*, R484*Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, See cases
Uncertain significance
(Sep 23, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:78401507
GRCh38:
Chr1:77935822
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20, not specified
Conflicting interpretations of pathogenicity
(Jul 5, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr1:78383358
GRCh38:
Chr1:77917673
NEXNN46fsnot provided, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Uncertain significance
(Feb 10, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:78408280
GRCh38:
Chr1:77942595
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Apr 28, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr1:78381825
GRCh38:
Chr1:77916140
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(May 3, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr1:78399174
GRCh38:
Chr1:77933489
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Oct 3, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:78401693
GRCh38:
Chr1:77936008
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Mar 1, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:78383863
GRCh38:
Chr1:77918178
NEXN, LOC126805765Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Nov 5, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr1:78401496
GRCh38:
Chr1:77935811
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Sep 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:78383623-78383626
GRCh38:
Chr1:77917938-77917941
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Apr 25, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:78399092
GRCh38:
Chr1:77933407
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Jul 26, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:78383892
GRCh38:
Chr1:77918207
LOC126805765, NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Nov 16, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr1:78383418
GRCh38:
Chr1:77917733
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Sep 20, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr1:78408407
GRCh38:
Chr1:77942722
NEXNCardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Likely benign
(Sep 18, 2021)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:78408385
GRCh38:
Chr1:77942700
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Apr 28, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:78401491-78401494
GRCh38:
Chr1:77935806-77935809
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCLikely benign
(Sep 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:78383884
GRCh38:
Chr1:77918199
LOC126805765, NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Oct 19, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr1:78392076-78392079
GRCh38:
Chr1:77926391-77926394
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Jun 15, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:78383627-78383630
GRCh38:
Chr1:77917942-77917945
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(Mar 10, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr1:78408160
GRCh38:
Chr1:77942475
NEXNDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Likely benign
(May 13, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr1:78408507
GRCh38:
Chr1:77942822
NEXNK674T, K610TCardiovascular phenotype, Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:78408164
GRCh38:
Chr1:77942479
NEXNE496K, E560KDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Sep 28, 2021)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:78408443
GRCh38:
Chr1:77942758
NEXNM653V, M589VCardiovascular phenotype, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:78401668
GRCh38:
Chr1:77935983
NEXNR471Q, R407QDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:78401577
GRCh38:
Chr1:77935892
NEXNG441C, G377CHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:78408375
GRCh38:
Chr1:77942690
NEXNY630C, Y566CHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, Cardiovascular phenotype
Uncertain significance
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:78401678
GRCh38:
Chr1:77935993
NEXNR410S, R474SDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Aug 18, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr1:78392503
GRCh38:
Chr1:77926818
NEXNK264Q, K200QHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr1:78383379
GRCh38:
Chr1:77917694
NEXND52EDilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(May 12, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:78395125
GRCh38:
Chr1:77929440
NEXNE330A, E266ADilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr1:78407821-78407823
GRCh38:
Chr1:77942136-77942138
NEXNR467del, R531delHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CCUncertain significance
(May 17, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:78399164
GRCh38:
Chr1:77933479
NEXNHypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC, not provided
Likely pathogenic
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
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