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Links from MedGen

Items: 1 to 100 of 2757

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:115366042
GRCh38:
Chr10:113606283
NRAPPrimary dilated cardiomyopathyUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr2:105977828
GRCh38:
Chr2:105361371
C2orf49, FHL2C137S, C143S, C251SPrimary dilated cardiomyopathyUncertain significance
(Nov 3, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr4:186444496-186456588
PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr22:19864628-19883124
TXNRD2Primary dilated cardiomyopathyUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr10:21120120
GRCh38:
Chr10:20831191
NEBLPrimary dilated cardiomyopathyUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:21147285
GRCh38:
Chr10:20858356
NEBLPrimary dilated cardiomyopathyLikely benign
(Jan 23, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr4:186425729
GRCh38:
Chr4:185504575
PDLIM3A181fs, A102fs, A269fs, A221fsHypertrophic cardiomyopathy, Primary dilated cardiomyopathyUncertain significance
(May 30, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr10:21102962
GRCh38:
Chr10:20814033
NEBLT751IPrimary dilated cardiomyopathyUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:21129782
GRCh38:
Chr10:20840853
NEBLPrimary dilated cardiomyopathyLikely benign
(May 17, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr4:186435412
GRCh38:
Chr4:185514258
LOC126807246, PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(May 27, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:21074831
GRCh38:
Chr10:20785902
NEBLD201N, D184N, D204N, D220N, D964N, R219Q, D198N, D251NPrimary dilated cardiomyopathyUncertain significance
(May 1, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr10:21115365
GRCh38:
Chr10:20826436
NEBLPrimary dilated cardiomyopathyLikely benign
(Oct 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr4:186425683
GRCh38:
Chr4:185504529
PDLIM3G196D, G236D, G117D, G284DPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:21106510
GRCh38:
Chr10:20817581
LOC126860875, NEBLPrimary dilated cardiomyopathyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:21076158-21076166
GRCh38:
Chr10:20787229-20787237
NEBLPrimary dilated cardiomyopathyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:105990129
GRCh38:
Chr2:105373672
C2orf49, FHL2N73SPrimary dilated cardiomyopathyUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr22:19868220
GRCh38:
Chr22:19880697
TXNRD2Primary dilated cardiomyopathy, Cardiovascular phenotypeLikely benign
(Feb 12, 2023)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:105984011
GRCh38:
Chr2:105367554
FHL2, C2orf49Primary dilated cardiomyopathyLikely benign
(Dec 13, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr22:19918560
GRCh38:
Chr22:19931037
TXNRD2Primary dilated cardiomyopathyLikely benign
(Sep 20, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr4:186425635
GRCh38:
Chr4:185504481
PDLIM3G212D, G300D, G133D, G252DPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:21108357
GRCh38:
Chr10:20819428
NEBLS684NPrimary dilated cardiomyopathyUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr4:186444577
GRCh38:
Chr4:185523423
PDLIM3P90LPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:21120505
GRCh38:
Chr10:20831576
NEBLY486CPrimary dilated cardiomyopathyUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr22:19885644
GRCh38:
Chr22:19898121
TXNRD2L231P, L199P, L201P, L135P, L230PPrimary dilated cardiomyopathyUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:21124462
GRCh38:
Chr10:20835533
NEBLA477TPrimary dilated cardiomyopathyUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:21178871
GRCh38:
Chr10:20889942
NEBLY54CPrimary dilated cardiomyopathyUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:105990139
GRCh38:
Chr2:105373682
C2orf49, FHL2Q70EPrimary dilated cardiomyopathyUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr10:21097474
GRCh38:
Chr10:20808545
NEBLC909YPrimary dilated cardiomyopathyUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:21124477
GRCh38:
Chr10:20835548
NEBLQ472*Primary dilated cardiomyopathyUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr22:19864703-19864704
GRCh38:
Chr22:19877180-19877181
TXNRD2C499*, C404*, C470*, C500*Primary dilated cardiomyopathyUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr4:186425659
GRCh38:
Chr4:185504505
PDLIM3P292L, P125L, P204L, P244LInborn genetic diseases, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr22:19870832
GRCh38:
Chr22:19883309
TXNRD2Primary dilated cardiomyopathyLikely benign
(May 12, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:21112151
GRCh38:
Chr10:20823222
NEBLK650EPrimary dilated cardiomyopathyUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr4:186435412
GRCh38:
Chr4:185514258
LOC126807246, PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(Feb 24, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:21074756
GRCh38:
Chr10:20785827
NEBLD223N, D276N, D226N, D229N, D209N, D245N, D989NPrimary dilated cardiomyopathyUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr4:186423480
GRCh38:
Chr4:185502326
PDLIM3Y188H, Y307H, Y267H, Y355HPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr22:19885634
GRCh38:
Chr22:19898111
TXNRD2Primary dilated cardiomyopathyLikely benign
(Dec 2, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr4:186429615
GRCh38:
Chr4:185508461
PDLIM3A167VPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:21178790
GRCh38:
Chr10:20889861
NEBLG81fsPrimary dilated cardiomyopathyUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr22:19929250-19929251
GRCh38:
Chr22:19941727-19941728
TXNRD2V26fsPrimary dilated cardiomyopathyUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:105990078
GRCh38:
Chr2:105373621
C2orf49, FHL2T90IPrimary dilated cardiomyopathyUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr4:186429552
GRCh38:
Chr4:185508398
PDLIM3A188DHypertrophic cardiomyopathy, Primary dilated cardiomyopathyUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:21101869
GRCh38:
Chr10:20812940
NEBLV101I, V104I, V98I, V120I, V783I, V84IPrimary dilated cardiomyopathyUncertain significance
(Jan 16, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr22:19883031
GRCh38:
Chr22:19895508
TXNRD2R282Q, R283Q, R251Q, R187Q, R253QPrimary dilated cardiomyopathyUncertain significance
(Dec 18, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr22:19867798
GRCh38:
Chr22:19880275
TXNRD2Primary dilated cardiomyopathyUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr4:186429453
GRCh38:
Chr4:185508299
PDLIM3S221IPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:21124555
GRCh38:
Chr10:20835626
NEBLPrimary dilated cardiomyopathyUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr22:19870864
GRCh38:
Chr22:19883341
TXNRD2I357T, I261T, I356T, I327TPrimary dilated cardiomyopathyUncertain significance
(May 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:21169795
GRCh38:
Chr10:20880866
NEBLPrimary dilated cardiomyopathyLikely benign
(Aug 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:21104536
GRCh38:
Chr10:20815607
NEBLPrimary dilated cardiomyopathyLikely benign
(Apr 6, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:21120393
GRCh38:
Chr10:20831464
NEBLPrimary dilated cardiomyopathyLikely benign
(Aug 23, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr22:19885546
GRCh38:
Chr22:19898023
TXNRD2Primary dilated cardiomyopathyLikely benign
(Mar 20, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr22:19885614
GRCh38:
Chr22:19898091
TXNRD2G211E, G240E, G241E, G145E, G209EPrimary dilated cardiomyopathyUncertain significance
(May 1, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:21120175
GRCh38:
Chr10:20831246
NEBLD541YPrimary dilated cardiomyopathyUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:21108452
GRCh38:
Chr10:20819523
NEBLPrimary dilated cardiomyopathyLikely benign
(Apr 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr22:19865926
GRCh38:
Chr22:19878403
TXNRD2T407M, T436M, T437M, T341MPrimary dilated cardiomyopathyUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:21112248
GRCh38:
Chr10:20823319
NEBLPrimary dilated cardiomyopathyLikely benign
(Apr 30, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:21186107
GRCh38:
Chr10:20897178
NEBLK10EPrimary dilated cardiomyopathyUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:105990156
GRCh38:
Chr2:105373699
C2orf49, FHL2A64VPrimary dilated cardiomyopathyUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:21124513
GRCh38:
Chr10:20835584
NEBLK460EPrimary dilated cardiomyopathyUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr4:186427766
GRCh38:
Chr4:185506612
PDLIM3R147W, R187W, R235W, R68WPrimary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:21120484
GRCh38:
Chr10:20831555
NEBLE493GPrimary dilated cardiomyopathyUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr22:19905664
GRCh38:
Chr22:19918141
TXNRD2Primary dilated cardiomyopathyUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:21120107
GRCh38:
Chr10:20831178
NEBLPrimary dilated cardiomyopathyLikely benign
(Jun 22, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr4:186423641
GRCh38:
Chr4:185502487
PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:21178834
GRCh38:
Chr10:20889905
NEBLPrimary dilated cardiomyopathyLikely benign
(Jul 27, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr22:19902764
GRCh38:
Chr22:19915241
TXNRD2Primary dilated cardiomyopathyLikely benign
(May 1, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:21102901
GRCh38:
Chr10:20813972
NEBLR771SPrimary dilated cardiomyopathyUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:21169724
GRCh38:
Chr10:20880795
NEBLN160SPrimary dilated cardiomyopathyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:21115487
GRCh38:
Chr10:20826558
NEBLPrimary dilated cardiomyopathyLikely benign
(Oct 16, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:21177120
GRCh38:
Chr10:20888191
NEBLT92SPrimary dilated cardiomyopathyUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:105979938
GRCh38:
Chr2:105363481
C2orf49, FHL2Primary dilated cardiomyopathyLikely benign
(Mar 8, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr4:186446224
GRCh38:
Chr4:185525070
PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(Sep 3, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:21139431
GRCh38:
Chr10:20850502
NEBLV337LPrimary dilated cardiomyopathyUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr4:186423568
GRCh38:
Chr4:185502414
PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(Mar 8, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:105977881-105977882
GRCh38:
Chr2:105361424-105361425
C2orf49, FHL2G233E, G125E, G119EPrimary dilated cardiomyopathyUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr22:19907053
GRCh38:
Chr22:19919530
TXNRD2Primary dilated cardiomyopathyLikely benign
(Mar 10, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:105984066
GRCh38:
Chr2:105367609
FHL2, C2orf49Y46*, Y154*, Y40*Primary dilated cardiomyopathyUncertain significance
(May 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr22:19929224
GRCh38:
Chr22:19941701
TXNRD2A35P, G35RPrimary dilated cardiomyopathyUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:21101788
GRCh38:
Chr10:20812859
NEBLR128G, R810G, R125G, R111G, R131G, R147GPrimary dilated cardiomyopathyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:21104604
GRCh38:
Chr10:20815675
NEBLV731IPrimary dilated cardiomyopathyUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:21098715
GRCh38:
Chr10:20809786
NEBLPrimary dilated cardiomyopathyLikely benign
(Apr 21, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:21101685
GRCh38:
Chr10:20812756
NEBLPrimary dilated cardiomyopathyLikely benign
(Sep 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:105979901
GRCh38:
Chr2:105363444
FHL2, C2orf49R177W, R63W, R69WPrimary dilated cardiomyopathyUncertain significance
(May 3, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:21158784
GRCh38:
Chr10:20869855
NEBLPrimary dilated cardiomyopathyUncertain significance
(May 17, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr22:19883009
GRCh38:
Chr22:19895486
TXNRD2Primary dilated cardiomyopathyLikely benign
(Oct 3, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:105979818
GRCh38:
Chr2:105363361
C2orf49, FHL2Primary dilated cardiomyopathyLikely benign
(Jan 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:21186070
GRCh38:
Chr10:20897141
NEBLE22GPrimary dilated cardiomyopathyUncertain significance
(Feb 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr10:21098829
GRCh38:
Chr10:20809900
NEBLPrimary dilated cardiomyopathyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr4:186435506
GRCh38:
Chr4:185514352
LOC126807246, PDLIM3Primary dilated cardiomyopathy, Hypertrophic cardiomyopathyLikely benign
(Mar 20, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr22:19902801-19902802
GRCh38:
Chr22:19915278-19915279
TXNRD2Primary dilated cardiomyopathyUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr22:19865638
GRCh38:
Chr22:19878115
TXNRD2T378A, T444A, T473A, T474ACardiovascular phenotype, Primary dilated cardiomyopathyUncertain significance
(Feb 27, 2023)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr2:106002918
GRCh38:
Chr2:105386461
FHL2Y19CPrimary dilated cardiomyopathyUncertain significance
(Jun 26, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:21158655
GRCh38:
Chr10:20869726
NEBLPrimary dilated cardiomyopathyLikely benign
(Feb 6, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:21158788
GRCh38:
Chr10:20869859
NEBLPrimary dilated cardiomyopathyLikely benign
(May 18, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr22:19865952
GRCh38:
Chr22:19878429
TXNRD2Primary dilated cardiomyopathyLikely benign
(Jan 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr22:19864772
GRCh38:
Chr22:19877249
TXNRD2Primary dilated cardiomyopathyLikely benign
(Dec 23, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr4:186427825
GRCh38:
Chr4:185506671
PDLIM3Hypertrophic cardiomyopathy, Primary dilated cardiomyopathyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:21115412
GRCh38:
Chr10:20826483
NEBLPrimary dilated cardiomyopathyLikely benign
(Jun 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr22:19907084
GRCh38:
Chr22:19919561
TXNRD2V71M, V39M, V70M, V41MPrimary dilated cardiomyopathyUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
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