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Items: 1 to 100 of 15546

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:44488702
Chr21:44488629
GRCh38:
Chr21:43068592
Chr21:43068519
CBS, CBSP78R, K102Nnot specifiedUncertain significance
(Mar 15, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr10:54031139
GRCh38:
Chr10:52271379
PRKG1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 4, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:52834483
GRCh38:
Chr10:51074723
PRKG1E45KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
4.
GRCh37:
ChrX:70346274
GRCh38:
ChrX:71126424
MED12Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 16, 2023)
criteria provided, single submitter
5.
GRCh37:
ChrX:70344949
GRCh38:
ChrX:71125099
MED12D727NFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 10, 2022)
criteria provided, single submitter
6.
GRCh37:
ChrX:70357725
GRCh38:
ChrX:71137875
MED12Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 16, 2023)
criteria provided, single submitter
7.
GRCh37:
ChrX:70357713
GRCh38:
ChrX:71137863
MED12Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 16, 2023)
criteria provided, single submitter
8.
GRCh37:
ChrX:70345296
GRCh38:
ChrX:71125446
MED12Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 16, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr10:90699395
GRCh38:
Chr10:88939638
ACTA2, ACTA2-AS1E226A, E183A, E189AFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 2, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:12034789
GRCh38:
Chr1:11974732
PLOD1R750Q, R703QFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 2, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:12018673
GRCh38:
Chr1:11958616
PLOD1Q362R, Q315RFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 4, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:189916184
GRCh38:
Chr2:189051458
COL5A2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 6, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:189915337
GRCh38:
Chr2:189050611
COL5A2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 6, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr20:45354015
GRCh38:
Chr20:46725376
SLC2A10L114FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:127674736
GRCh38:
Chr5:128339044
FBN2I1121VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 3, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:127611770
GRCh38:
Chr5:128276078
FBN2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 23, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:127686618
GRCh38:
Chr5:128350926
FBN2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:127692972
GRCh38:
Chr5:128357280
FBN2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 15, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr5:127599209
GRCh38:
Chr5:128263517
FBN2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:127597521
GRCh38:
Chr5:128261829
FBN2Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 1, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr9:137622235
GRCh38:
Chr9:134730389
COL5A1G360WFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 3, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr9:137591823
GRCh38:
Chr9:134699977
COL5A1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 23, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr9:137622309
GRCh38:
Chr9:134730463
COL5A1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 27, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr16:15811103
GRCh38:
Chr16:15717246
NDE1, MYH11K1800E, K1807EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 12, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr16:15842021
GRCh38:
Chr16:15748164
MYH11G695D, G688DFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 4, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr16:15797910
GRCh38:
Chr16:15704053
MYH11, NDE1G1960S, G1953SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 5, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr3:123411588
GRCh38:
Chr3:123692741
MYLKV1011M, V1187M, V1118MFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 23, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:123428685
GRCh38:
Chr3:123709838
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:123457865
GRCh38:
Chr3:123739018
MYLKW156LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 15, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:2160460
GRCh38:
Chr1:2229021
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 2, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:2235955
GRCh38:
Chr1:2304516
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 20, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr9:139390814
GRCh38:
Chr9:136496362
NOTCH1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 7, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr9:139404255
GRCh38:
Chr9:136509803
NOTCH1Y967NFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
34.
GRCh37:
ChrX:70356481
GRCh38:
ChrX:71136631
MED12Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 10, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr15:48808522
GRCh38:
Chr15:48516325
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 8, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr15:48757779
GRCh38:
Chr15:48465582
FBN1T1643KFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 15, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr15:48905289
GRCh38:
Chr15:48613092
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 26, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr15:48729975
GRCh38:
Chr15:48437778
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 25, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr15:48722933
GRCh38:
Chr15:48430736
FBN1I2269SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr15:48936893
GRCh38:
Chr15:48644696
FBN1A25VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr15:48707747
GRCh38:
Chr15:48415550
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 5, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr15:48788303-48788304
GRCh38:
Chr15:48496106-48496107
FBN1C805fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jan 11, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr15:48905272
GRCh38:
Chr15:48613075
FBN1S61*Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Dec 14, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr15:48714173-48714174
GRCh38:
Chr15:48421976-48421977
FBN1T2516fsFamilial thoracic aortic aneurysm and aortic dissectionPathogenic
(Dec 12, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr15:48788423
GRCh38:
Chr15:48496226
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely pathogenic
(Dec 23, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:48782175
GRCh38:
Chr15:48489978
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr15:48762905
GRCh38:
Chr15:48470708
FBN1H1462PFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 4, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr15:48718039
GRCh38:
Chr15:48425842
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 10, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:48717683
GRCh38:
Chr15:48425486
FBN1N2446DFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 21, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:48787784
GRCh38:
Chr15:48495587
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 7, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:48725067
GRCh38:
Chr15:48432870
FBN1Familial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 4, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:48752506
GRCh38:
Chr15:48460309
FBN1A1745TFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:123419618
GRCh38:
Chr3:123700771
MYLKD723E, D830E, D899EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 13, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr3:123451906
GRCh38:
Chr3:123733059
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 26, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr3:123457780
GRCh38:
Chr3:123738933
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 16, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr3:123333196
GRCh38:
Chr3:123614349
MYLK-AS1, MYLKG74A, G1714A, G1834A, G73A, G1658A, G1783A, G1765AFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr3:123452632
GRCh38:
Chr3:123733785
MYLKP404L, P228LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 13, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr3:123376166
GRCh38:
Chr3:123657319
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 13, 2023)
criteria provided, single submitter
59.
GRCh37:
Chr3:123427577
GRCh38:
Chr3:123708730
MYLKE634V, E703V, E527VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 1, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr3:123471321
GRCh38:
Chr3:123752474
MYLKG77DFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:123458802
GRCh38:
Chr3:123739955
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 9, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:123453008
GRCh38:
Chr3:123734161
MYLKI279L, I103LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:123419331
GRCh38:
Chr3:123700484
MYLKN819I, N926I, N995IFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:123376187
GRCh38:
Chr3:123657340
MYLKD1358E, D1289E, D1182EFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:123419094
GRCh38:
Chr3:123700247
MYLKD1005V, D1074V, D898VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:123452608
GRCh38:
Chr3:123733761
MYLKA236V, A412VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr3:123444830
GRCh38:
Chr3:123725983
MYLKFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 27, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr3:123426729
GRCh38:
Chr3:123707882
MYLKW685C, W754C, W578CFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 20, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:123383069
GRCh38:
Chr3:123664222
MYLKE1221Q, E1114Q, E1290QFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:123366140
GRCh38:
Chr3:123647293
MYLKH1341L, H1448L, H1517LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 19, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:123441089
GRCh38:
Chr3:123722242
MYLKG388R, G564R, G495RFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 15, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:123512666
GRCh38:
Chr3:123793819
MYLKA8VFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 15, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:2235357
GRCh38:
Chr1:2303918
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Mar 7, 2023)
criteria provided, single submitter
74.
GRCh37:
Chr1:2237686
GRCh38:
Chr1:2306247
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Feb 27, 2023)
criteria provided, single submitter
75.
GRCh37:
Chr1:2238018
GRCh38:
Chr1:2306579
SKII667MFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 25, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr1:2235885
GRCh38:
Chr1:2304446
SKIE543GFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 25, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr1:2160357
GRCh38:
Chr1:2228918
SKIS51NFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 22, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr1:2235408
GRCh38:
Chr1:2303969
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Jan 18, 2023)
criteria provided, single submitter
79.
GRCh37:
Chr1:2160883
GRCh38:
Chr1:2229444
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 31, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:2238156
GRCh38:
Chr1:2306717
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:2237477
GRCh38:
Chr1:2306038
SKIV596LFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 16, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:2161024
GRCh38:
Chr1:2229585
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 9, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:2160765
GRCh38:
Chr1:2229326
SKIN187SFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:2160514
GRCh38:
Chr1:2229075
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Dec 1, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:2237576
GRCh38:
Chr1:2306137
SKIE629QFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 20, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:2160301
GRCh38:
Chr1:2228862
SKIFamilial thoracic aortic aneurysm and aortic dissectionLikely benign
(Nov 10, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr18:48591851
GRCh38:
Chr18:51065481
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Mar 2, 2023)
criteria provided, single submitter
88.
GRCh37:
Chr18:48581245
GRCh38:
Chr18:51054875
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Feb 16, 2023)
criteria provided, single submitter
89.
GRCh37:
Chr18:48591802
GRCh38:
Chr18:51065432
SMAD4Y322CFamilial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 8, 2023)
criteria provided, single submitter
90.
GRCh37:
Chr18:48584537
GRCh38:
Chr18:51058167
SMAD4L237PFamilial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr18:48591941
GRCh38:
Chr18:51065571
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Jan 19, 2023)
criteria provided, single submitter
92.
GRCh37:
Chr18:48604611
GRCh38:
Chr18:51078241
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 5, 2023)
criteria provided, single submitter
93.
GRCh37:
Chr18:48584780
GRCh38:
Chr18:51058410
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Jan 18, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr18:48584554
GRCh38:
Chr18:51058184
SMAD4G243RFamilial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 12, 2023)
criteria provided, single submitter
95.
GRCh37:
Chr18:48604810
GRCh38:
Chr18:51078440
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Jan 7, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr18:48573584
GRCh38:
Chr18:51047214
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Jan 5, 2023)
criteria provided, single submitter
97.
GRCh37:
Chr18:48575056
GRCh38:
Chr18:51048686
SMAD4V84LFamilial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 1, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr18:48604744
GRCh38:
Chr18:51078374
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Dec 26, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr18:48593527
GRCh38:
Chr18:51067157
SMAD4Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeLikely benign
(Dec 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr18:48584757
GRCh38:
Chr18:51058387
SMAD4N279YFamilial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndromeUncertain significance
(Dec 7, 2022)
criteria provided, single submitter
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