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Items: 1 to 100 of 269

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:90699417
GRCh38:
Chr10:88939660
ACTA2, ACTA2-AS1C176R, C182R, C219RAortic aneurysm, familial thoracic 6Pathogenicno assertion criteria provided
2.
GRCh37:
Chr10:90707055
GRCh38:
Chr10:88947298
ACTA2I73TAortic aneurysm, familial thoracic 6Pathogenicno assertion criteria provided
3.
GRCh37:
Chr10:90699424
GRCh38:
Chr10:88939667
ACTA2, ACTA2-AS1E173D, E179D, E216DAortic aneurysm, familial thoracic 6Pathogenicno assertion criteria provided
4.
GRCh37:
Chr10:90703665
GRCh38:
Chr10:88943908
ACTA2Aortic aneurysm, familial thoracic 6Likely pathogenic
(Jun 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr10:90697798-90767614
ACTA2, FAS, FAS-AS1Aortic aneurysm, familial thoracic 6Uncertain significance
(Aug 28, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr10:90703618
GRCh38:
Chr10:88943861
ACTA2E102A, E59AAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 18, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr10:90697920
GRCh38:
Chr10:88938163
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Jul 13, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr10:90703675
GRCh38:
Chr10:88943918
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jul 3, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:90697830
GRCh38:
Chr10:88938073
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Jan 3, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr10:90707141
GRCh38:
Chr10:88947384
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Oct 3, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr10:90701528
GRCh38:
Chr10:88941771
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jul 23, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr10:90699394
GRCh38:
Chr10:88939637
ACTA2, ACTA2-AS1E183D, E226D, E189DAortic aneurysm, familial thoracic 6Uncertain significance
(May 15, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:90699251
GRCh38:
Chr10:88939494
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Apr 24, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr10:90707152
GRCh38:
Chr10:88947395
ACTA2Aortic aneurysm, familial thoracic 6Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr10:90700976
GRCh38:
Chr10:88941219
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Aug 25, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:90699324
GRCh38:
Chr10:88939567
ACTA2, ACTA2-AS1I250V, I207V, I213VAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 26, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr10:90703584
GRCh38:
Chr10:88943827
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Apr 11, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:90699467
GRCh38:
Chr10:88939710
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Aug 31, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:90708685
GRCh38:
Chr10:88948928
ACTA2M1IAortic aneurysm, familial thoracic 6Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr10:90697846
GRCh38:
Chr10:88938089
ACTA2, ACTA2-AS1A321G, A257G, A278G, A284Gnot provided, Aortic aneurysm, familial thoracic 6Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:90701092
GRCh38:
Chr10:88941335
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jan 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:90701019
GRCh38:
Chr10:88941262
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Aug 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:90695093-90695094
GRCh38:
Chr10:88935336-88935337
ACTA2, ACTA2-AS1V341fsAortic aneurysm, familial thoracic 6Uncertain significance
(May 3, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:90703586
GRCh38:
Chr10:88943829
ACTA2N113D, N70DAortic aneurysm, familial thoracic 6Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:90695042
GRCh38:
Chr10:88935285
ACTA2, ACTA2-AS1W294R, W358R, W315R, W321RAortic aneurysm, familial thoracic 6Uncertain significance
(Apr 26, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:90701137
GRCh38:
Chr10:88941380
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Apr 16, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:90701637
GRCh38:
Chr10:88941880
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Apr 10, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr10:90697879
GRCh38:
Chr10:88938122
ACTA2, ACTA2-AS1G267D, G310D, G246D, G273DAortic aneurysm, familial thoracic 6Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:90699290
GRCh38:
Chr10:88939533
ACTA2, ACTA2-AS1E224G, E218G, E261GAortic aneurysm, familial thoracic 6Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:90699255
GRCh38:
Chr10:88939498
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Oct 23, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr10:90703643
GRCh38:
Chr10:88943886
ACTA2N51D, N94DAortic aneurysm, familial thoracic 6Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:90695139
GRCh38:
Chr10:88935382
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Jun 14, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr10:90701527
GRCh38:
Chr10:88941770
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Sep 26, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:90697857
GRCh38:
Chr10:88938100
ACTA2, ACTA2-AS1Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Likely benign
(Nov 19, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:90699315
GRCh38:
Chr10:88939558
ACTA2, ACTA2-AS1G210R, G216R, G253RAortic aneurysm, familial thoracic 6Uncertain significance
(May 30, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:90695134
GRCh38:
Chr10:88935377
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Jul 22, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:90699339
GRCh38:
Chr10:88939582
ACTA2, ACTA2-AS1P208A, P202A, P245AAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:90703553
GRCh38:
Chr10:88943796
ACTA2Aortic aneurysm, familial thoracic 6Pathogenic
(Sep 23, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr10:90697911
GRCh38:
Chr10:88938154
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Aug 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:90707131-90707133
GRCh38:
Chr10:88947374-88947376
ACTA2V47delAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:90701584
GRCh38:
Chr10:88941827
ACTA2I138V, I101V, I95VAortic aneurysm, familial thoracic 6Uncertain significance
(Jun 18, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:90699323
GRCh38:
Chr10:88939566
ACTA2, ACTA2-AS1I207T, I213T, I250TAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 6, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:90701630
GRCh38:
Chr10:88941873
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(May 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:90695047
GRCh38:
Chr10:88935290
ACTA2, ACTA2-AS1Q313R, Q319R, Q356R, Q292RAortic aneurysm, familial thoracic 6Uncertain significance
(Jul 16, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr10:90703639
GRCh38:
Chr10:88943882
ACTA2E95G, E52GAortic aneurysm, familial thoracic 6Uncertain significance
(May 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:90701039
GRCh38:
Chr10:88941282
ACTA2T145I, T151I, T188IAortic aneurysm, familial thoracic 6Uncertain significance
(May 27, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:90707111
GRCh38:
Chr10:88947354
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jul 23, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:90697948
GRCh38:
Chr10:88938191
ACTA2, ACTA2-AS1C223Y, C287Y, C244Y, C250YAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr10:90699325
GRCh38:
Chr10:88939568
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Mar 5, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:90695120
GRCh38:
Chr10:88935363
ACTA2, ACTA2-AS1I268V, I295V, I332V, I289VAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:90701080
GRCh38:
Chr10:88941323
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Mar 14, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:90699421
GRCh38:
Chr10:88939664
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Jul 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:90707011
GRCh38:
Chr10:88947254
ACTA2Aortic aneurysm, familial thoracic 6Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:90697851
GRCh38:
Chr10:88938094
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jul 1, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:90701134
GRCh38:
Chr10:88941377
ACTA2Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 21, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:90701617
GRCh38:
Chr10:88941860
ACTA2E127Q, E84Q, E90QAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:90701109
GRCh38:
Chr10:88941352
ACTA2V122I, V128I, V165IAortic aneurysm, familial thoracic 6Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:90701590
GRCh38:
Chr10:88941833
ACTA2V136M, V93M, V99MAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr10:90703598
GRCh38:
Chr10:88943841
ACTA2E109fsAortic aneurysm, familial thoracic 6Likely pathogenic
(Feb 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:90697908
GRCh38:
Chr10:88938151
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Aug 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:90703566
GRCh38:
Chr10:88943809
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Apr 24, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr10:90703638
GRCh38:
Chr10:88943881
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Mar 9, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr10:90707051
GRCh38:
Chr10:88947294
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Feb 20, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr10:90708547
GRCh38:
Chr10:88948790
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Sep 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:90708551
GRCh38:
Chr10:88948794
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jun 27, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:90699376
GRCh38:
Chr10:88939619
ACTA2, ACTA2-AS1Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Likely benign
(Jul 23, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:90707075
GRCh38:
Chr10:88947318
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jul 25, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:90697875
GRCh38:
Chr10:88938118
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Feb 3, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr10:90699288
GRCh38:
Chr10:88939531
ACTA2, ACTA2-AS1T262A, T225A, T219AFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Uncertain significance
(Sep 12, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:90703568
GRCh38:
Chr10:88943811
ACTA2E119Q, E76QAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr10:90708589-90708590
GRCh38:
Chr10:88948832-88948833
ACTA2S35fsAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr10:90699396
GRCh38:
Chr10:88939639
ACTA2, ACTA2-AS1E226K, E189K, E183KAortic aneurysm, familial thoracic 6Uncertain significance
(Sep 3, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr10:90695030
GRCh38:
Chr10:88935273
ACTA2, ACTA2-AS1Q362*, Q325*, Q319*, Q298*Aortic aneurysm, familial thoracic 6Uncertain significance
(Dec 8, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr10:90701091
GRCh38:
Chr10:88941334
ACTA2Y171N, Y128N, Y134NAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr10:90697994
GRCh38:
Chr10:88938237
ACTA2, ACTA2-AS1E272Q, E208Q, E229Q, E235QAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr10:90703661
GRCh38:
Chr10:88943904
ACTA2W88R, W45RAortic aneurysm, familial thoracic 6Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:90699259
GRCh38:
Chr10:88939502
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:90699345
GRCh38:
Chr10:88939588
ACTA2, ACTA2-AS1E243K, E206K, E200KAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr10:90694970-91007415
ACTA2, CH25H, FAS, FAS-AS1, LIPAAortic aneurysm, familial thoracic 6Uncertain significance
(Feb 14, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr10:90707137
GRCh38:
Chr10:88947380
ACTA2M46VAortic aneurysm, familial thoracic 6Uncertain significance
(Oct 14, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr10:90699440
GRCh38:
Chr10:88939683
ACTA2, ACTA2-AS1V211D, V174D, V168DAortic aneurysm, familial thoracic 6Uncertain significance
(Sep 29, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr10:90697940
GRCh38:
Chr10:88938183
ACTA2, ACTA2-AS1D290N, D253N, D226N, D247NAortic aneurysm, familial thoracic 6Uncertain significance
(Apr 10, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:90703547-90703550
GRCh38:
Chr10:88943790-88943793
ACTA2Aortic aneurysm, familial thoracic 6Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr10:90697838
GRCh38:
Chr10:88938081
ACTA2, ACTA2-AS1P324S, P260S, P287S, P281SAortic aneurysm, familial thoracic 6Uncertain significance
(Nov 2, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr10:90703573
GRCh38:
Chr10:88943816
ACTA2N117S, N74SFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Conflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr10:90703580-90703583
GRCh38:
Chr10:88943823-88943826
ACTA2P114fsAortic aneurysm, familial thoracic 6Likely pathogenicno assertion criteria provided
87.
GRCh37:
Chr10:90703585
GRCh38:
Chr10:88943828
ACTA2N113S, N70SAortic aneurysm, familial thoracic 6Uncertain significanceno assertion criteria provided
88.
GRCh37:
Chr10:90695127
GRCh38:
Chr10:88935370
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissectionConflicting interpretations of pathogenicity
(Jun 10, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr10:90708624
GRCh38:
Chr10:88948867
ACTA2G22SFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Uncertain significance
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:90701107
GRCh38:
Chr10:88941350
ACTA2not specified, Aortic aneurysm, familial thoracic 6Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:90701597
GRCh38:
Chr10:88941840
ACTA2Aortic aneurysm, familial thoracic 6, not providedConflicting interpretations of pathogenicity
(Mar 18, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr10:90695131
GRCh38:
Chr10:88935374
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6Likely benign
(Aug 22, 2019)
criteria provided, single submitter
93.
GRCh37:
Chr10:90699343
GRCh38:
Chr10:88939586
ACTA2, ACTA2-AS1Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6Likely benign
(Dec 16, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:90707069
GRCh38:
Chr10:88947312
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Jun 19, 2019)
criteria provided, single submitter
95.
GRCh37:
Chr10:90703575
GRCh38:
Chr10:88943818
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(May 7, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr10:90699424
GRCh38:
Chr10:88939667
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
Likely benign
(Feb 20, 2023)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr10:90708600
GRCh38:
Chr10:88948843
ACTA2Aortic aneurysm, familial thoracic 6Likely benign
(Oct 8, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr10:90708573
GRCh38:
Chr10:88948816
ACTA2R39SAortic aneurysm, familial thoracic 6Likely pathogenic
(Aug 28, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr10:90699423
GRCh38:
Chr10:88939666
ACTA2, ACTA2-AS1K217E, K174E, K180EAortic aneurysm, familial thoracic 6Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr10:90701592
GRCh38:
Chr10:88941835
ACTA2Y135C, Y98C, Y92CAortic aneurysm, familial thoracic 6Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
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