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Items: 1 to 100 of 1490

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:15872661
GRCh38:
Chr16:15778804
MYH11I256V, I263VAortic aneurysm, familial thoracic 4Likely pathogenic
(Nov 17, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr16:15838966-15850391
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Feb 23, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr16:15808746-15818869
NDE1, MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Mar 11, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr16:15826401-15829455
MYH11Aortic aneurysm, familial thoracic 4Pathogenic
(Feb 8, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr16:15832402-15850391
MYH11Aortic aneurysm, familial thoracic 4Pathogenic
(May 14, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr16:15892497-15892564
MYH11Aortic aneurysm, familial thoracic 4Pathogenic
(Mar 11, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr16:15857633-15857768
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(May 21, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr16:15835383
GRCh38:
Chr16:15741526
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Mar 19, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr16:15820722
GRCh38:
Chr16:15726865
MYH11K1281E, K1288EAortic aneurysm, familial thoracic 4Uncertain significance
(May 8, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr16:15851699
GRCh38:
Chr16:15757842
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jan 31, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr16:15818496
GRCh38:
Chr16:15724639
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jul 20, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr16:15808754
GRCh38:
Chr16:15714897
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jun 14, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr16:15869915
GRCh38:
Chr16:15776058
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 30, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr16:15818635
GRCh38:
Chr16:15724778
MYH11, NDE1R1336W, R1329WFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4Uncertain significance
(Mar 16, 2023)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:15854439
GRCh38:
Chr16:15760582
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jul 20, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr16:15812163
GRCh38:
Chr16:15718306
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Dec 23, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr16:15814774
GRCh38:
Chr16:15720917
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Mar 17, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr16:15876254
GRCh38:
Chr16:15782397
MYH11N238K, N245KAortic aneurysm, familial thoracic 4Uncertain significance
(Jul 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr16:15812315
GRCh38:
Chr16:15718458
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 27, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr16:15892557
GRCh38:
Chr16:15798700
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr16:15820918
GRCh38:
Chr16:15727061
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Sep 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr16:15814001
GRCh38:
Chr16:15720144
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jun 22, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr16:15820853
GRCh38:
Chr16:15726996
MYH11A1237G, A1244GAortic aneurysm, familial thoracic 4, not providedUncertain significance
(Mar 8, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:15835426
GRCh38:
Chr16:15741569
MYH11Q918R, Q925RAortic aneurysm, familial thoracic 4, not providedUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:15814801
GRCh38:
Chr16:15720944
MYH11, NDE1K1562N, K1569NAortic aneurysm, familial thoracic 4Uncertain significance
(Jan 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:15833895
GRCh38:
Chr16:15740038
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Sep 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr16:15811098
GRCh38:
Chr16:15717241
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Mar 18, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr16:15853421
GRCh38:
Chr16:15759564
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jun 11, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr16:15818748
GRCh38:
Chr16:15724891
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Aug 30, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr16:15808747
GRCh38:
Chr16:15714890
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(May 27, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr16:15853588-15853589
GRCh38:
Chr16:15759731-15759732
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr16:15813169
GRCh38:
Chr16:15719312
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jan 27, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr16:15811222
GRCh38:
Chr16:15717365
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jun 29, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr16:15847357
GRCh38:
Chr16:15753500
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jan 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr16:15878590
GRCh38:
Chr16:15784733
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Sep 4, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr16:15870043
GRCh38:
Chr16:15776186
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr16:15932036
GRCh38:
Chr16:15838179
MYH11V25GAortic aneurysm, familial thoracic 4Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr16:15892542
GRCh38:
Chr16:15798685
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Feb 7, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr16:15832495
GRCh38:
Chr16:15738638
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 13, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr16:15847254
GRCh38:
Chr16:15753397
MYH11D621N, D628NAortic aneurysm, familial thoracic 4Uncertain significance
(May 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr16:15814115
GRCh38:
Chr16:15720258
NDE1, MYH11A1616P, A1623PAortic aneurysm, familial thoracic 4Uncertain significance
(Apr 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr16:15813432
GRCh38:
Chr16:15719575
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 15, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr16:15831354
GRCh38:
Chr16:15737497
MYH11K1089R, K1082RAortic aneurysm, familial thoracic 4, not providedUncertain significance
(Apr 16, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:15847279
GRCh38:
Chr16:15753422
MYH11D612E, D619EAortic aneurysm, familial thoracic 4Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr16:15813575
GRCh38:
Chr16:15719718
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr16:15851756
GRCh38:
Chr16:15757899
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Feb 8, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr16:15818011
GRCh38:
Chr16:15724154
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jun 17, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr16:15841429
GRCh38:
Chr16:15747572
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(May 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr16:15831315
GRCh38:
Chr16:15737458
MYH11A1095V, A1102VAortic aneurysm, familial thoracic 4Uncertain significance
(Jul 27, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr16:15802700-15802701
GRCh38:
Chr16:15708843-15708844
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr16:15835706
GRCh38:
Chr16:15741849
MYH11Q862K, Q855KAortic aneurysm, familial thoracic 4Uncertain significance
(Dec 2, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr16:15812274
GRCh38:
Chr16:15718417
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Aug 11, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr16:15835620
GRCh38:
Chr16:15741763
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 28, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr16:15850331
GRCh38:
Chr16:15756474
MYH11C546Y, C539YAortic aneurysm, familial thoracic 4Uncertain significance
(Apr 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:15839102
GRCh38:
Chr16:15745245
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:15865478
GRCh38:
Chr16:15771621
MYH11Q327H, Q334HAortic aneurysm, familial thoracic 4Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr16:15835500
GRCh38:
Chr16:15741643
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 9, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr16:15865572-15865574
GRCh38:
Chr16:15771715-15771717
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jul 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr16:15818271
GRCh38:
Chr16:15724414
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jun 27, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr16:15815303
GRCh38:
Chr16:15721446
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Mar 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr16:15820844
GRCh38:
Chr16:15726987
MYH11L1240P, L1247PAortic aneurysm, familial thoracic 4Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr16:15876336
GRCh38:
Chr16:15782479
MYH11Aortic aneurysm, familial thoracic 4Likely pathogenic
(Mar 23, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr16:15865435
GRCh38:
Chr16:15771578
MYH11E342*, E349*Aortic aneurysm, familial thoracic 4Pathogenic
(Mar 24, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr16:15811096
GRCh38:
Chr16:15717239
MYH11, NDE1H1802P, H1809PAortic aneurysm, familial thoracic 4Uncertain significance
(Jul 28, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr16:15854387
GRCh38:
Chr16:15760530
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Mar 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr16:15878575
GRCh38:
Chr16:15784718
MYH11Q212EAortic aneurysm, familial thoracic 4Uncertain significance
(Feb 24, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr16:15865578
GRCh38:
Chr16:15771721
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Feb 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr16:15854525
GRCh38:
Chr16:15760668
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(May 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr16:15808916
GRCh38:
Chr16:15715059
MYH11, NDE1V1879A, V1886AAortic aneurysm, familial thoracic 4Uncertain significance
(Jan 28, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr16:15847233
GRCh38:
Chr16:15753376
MYH11not specified, Aortic aneurysm, familial thoracic 4Conflicting interpretations of pathogenicity
(Jul 22, 2023)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr16:15809107
GRCh38:
Chr16:15715250
NDE1, MYH11S1850T, S1843TAortic aneurysm, familial thoracic 4Uncertain significance
(Jan 24, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr16:15814878
GRCh38:
Chr16:15721021
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jan 19, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:15813075
GRCh38:
Chr16:15719218
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely pathogenic
(Jan 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr16:15841561
GRCh38:
Chr16:15747704
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 28, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr16:15818865
GRCh38:
Chr16:15725008
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jan 12, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr16:15814076
GRCh38:
Chr16:15720219
MYH11, NDE1Aortic aneurysm, familial thoracic 4Likely benign
(Jan 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr16:15835603
GRCh38:
Chr16:15741746
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 8, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr16:15818272
GRCh38:
Chr16:15724415
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Sep 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr16:15813521
GRCh38:
Chr16:15719664
MYH11, NDE1R1668T, R1675TAortic aneurysm, familial thoracic 4Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr16:15829215
GRCh38:
Chr16:15735358
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr16:15808810
GRCh38:
Chr16:15714953
NDE1, MYH11N1921K, N1914KAortic aneurysm, familial thoracic 4Uncertain significance
(Mar 13, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr16:15841488
GRCh38:
Chr16:15747631
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jul 17, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr16:15839064
GRCh38:
Chr16:15745207
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Feb 11, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr16:15814684
GRCh38:
Chr16:15720827
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Feb 20, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr16:15813493
GRCh38:
Chr16:15719636
NDE1, MYH11E1677D, E1684DAortic aneurysm, familial thoracic 4Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr16:15820708
GRCh38:
Chr16:15726851
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 18, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr16:15829224
GRCh38:
Chr16:15735367
MYH11Aortic aneurysm, familial thoracic 4Uncertain significance
(Aug 30, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr16:15808767
GRCh38:
Chr16:15714910
MYH11, NDE1Aortic aneurysm, familial thoracic 4Uncertain significance
(Jul 21, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr16:15931756
GRCh38:
Chr16:15837899
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Jul 10, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr16:15832498
GRCh38:
Chr16:15738641
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 15, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr16:15813131
GRCh38:
Chr16:15719274
MYH11, NDE1A1706V, A1713VAortic aneurysm, familial thoracic 4, not providedUncertain significance
(Dec 12, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:15813062-15813065
GRCh38:
Chr16:15719205-15719208
NDE1, MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Apr 7, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr16:15833909
GRCh38:
Chr16:15740052
MYH11K1006R, K999RAortic aneurysm, familial thoracic 4Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr16:15892499
GRCh38:
Chr16:15798642
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Mar 20, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr16:15834011
GRCh38:
Chr16:15740154
MYH11A965V, A972VAortic aneurysm, familial thoracic 4Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr16:15826434
GRCh38:
Chr16:15732577
MYH11E1220A, E1213AAortic aneurysm, familial thoracic 4Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr16:15835301-15835308
GRCh38:
Chr16:15741444-15741451
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Aug 29, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr16:15870039
GRCh38:
Chr16:15776182
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(May 17, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr16:15917128
GRCh38:
Chr16:15823271
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 26, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr16:15832556
GRCh38:
Chr16:15738699
MYH11Aortic aneurysm, familial thoracic 4Likely benign
(Oct 26, 2022)
criteria provided, single submitter
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