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Items: 1 to 100 of 259

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
TGFBR1Thoracic aortic aneurysm and aortic dissectionBenign
(Jun 4, 2013)
criteria provided, single submitter
2.
TGFBR1Thoracic aortic aneurysm and aortic dissectionBenign
(Mar 25, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr9:101867438-101867439
GRCh38:
Chr9:99105156-99105157
TGFBR1not specifiedBenign
(Jun 30, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr9:101867439
GRCh38:
Chr9:99105157
TGFBR1not specifiedLikely benign
(Apr 5, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr9:101867445
GRCh38:
Chr9:99105163
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:101867475
GRCh38:
Chr9:99105193
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr9:101867484
GRCh38:
Chr9:99105202
TGFBR1not specifiedLikely benign
(Jan 17, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr9:101867486
GRCh38:
Chr9:99105204
TGFBR1not specifiedLikely benign
(Aug 9, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:101867507
GRCh38:
Chr9:99105225
TGFBR1not specifiedUncertain significance
(Aug 22, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:101867510
GRCh38:
Chr9:99105228
TGFBR1not specifiedUncertain significance
(Aug 2, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr9:101867511
GRCh38:
Chr9:99105229
TGFBR1not specifiedUncertain significance
(Jun 16, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:101867519
GRCh38:
Chr9:99105237
TGFBR1not specifiedUncertain significance
(Dec 30, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:101867519
GRCh38:
Chr9:99105237
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Mar 4, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr9:101867522
GRCh38:
Chr9:99105240
TGFBR1not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:101867536
GRCh38:
Chr9:99105254
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 31, 2016)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr9:101867537-101867545
GRCh38:
Chr9:99105255-99105263
TGFBR1not specifiedBenign
(Mar 3, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr9:101867557-101867565
GRCh38:
Chr9:99105275-99105283
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedConflicting interpretations of pathogenicity
(Sep 25, 2016)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr9:101867557-101867561
GRCh38:
Chr9:99105275-99105279
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 26, 2012)
criteria provided, single submitter
19.
GRCh37:
Chr9:101867557-101867565
GRCh38:
Chr9:99105275-99105283
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr9:101867560-101867565
GRCh38:
Chr9:99105278-99105283
TGFBR1Thoracic aortic aneurysm and aortic dissectionBenign
(Mar 19, 2015)
criteria provided, single submitter
21.
GRCh37:
Chr9:101867563-101867565
GRCh38:
Chr9:99105281-99105283
TGFBR1not specifiedLikely benign
(Mar 3, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr9:101867563-101867565
GRCh38:
Chr9:99105281-99105283
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedBenign/Likely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr9:101867607-101867610
GRCh38:
Chr9:99105325-99105328
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:101891159
GRCh38:
Chr9:99128877
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr9:101891173
GRCh38:
Chr9:99128891
TGFBR1Multiple self healing squamous epithelioma, not specified, not provided
Conflicting interpretations of pathogenicity, risk factor
(Dec 16, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr9:101891174
GRCh38:
Chr9:99128892
TGFBR1not specifiedLikely benign
(Jan 28, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:101891193
GRCh38:
Chr9:99128911
TGFBR1Multiple self healing squamous epitheliomarisk factor
(Feb 27, 2011)
no assertion criteria provided
28.
GRCh37:
Chr9:101891230
GRCh38:
Chr9:99128948
TGFBR1not specifiedUncertain significance
(Aug 13, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr9:101891231
GRCh38:
Chr9:99128949
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedBenign/Likely benign
(Apr 19, 2016)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr9:101891242
GRCh38:
Chr9:99128960
TGFBR1not specifiedUncertain significance
(Feb 24, 2009)
criteria provided, single submitter
31.
GRCh37:
Chr9:101891243
GRCh38:
Chr9:99128961
TGFBR1not specifiedLikely benign
(Jan 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr9:101891246
GRCh38:
Chr9:99128964
TGFBR1Thoracic aortic aneurysm and aortic dissection, not specifiedConflicting interpretations of pathogenicity
(Jun 8, 2016)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr9:101891253
GRCh38:
Chr9:99128971
TGFBR1not specifiedUncertain significance
(Dec 6, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr9:101891261
GRCh38:
Chr9:99128979
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Feb 24, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr9:101891288
GRCh38:
Chr9:99129006
TGFBR1not specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:101891321
GRCh38:
Chr9:99129039
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Apr 29, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr9:101891385
GRCh38:
Chr9:99129103
TGFBR1not specifiedConflicting interpretations of pathogenicity
(Mar 13, 2013)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr9:101894717
GRCh38:
Chr9:99132435
TGFBR1Loeys-Dietz syndromeUncertain significance
(Aug 18, 2011)
criteria provided, single submitter
39.
GRCh37:
Chr9:101894792
GRCh38:
Chr9:99132510
TGFBR1not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:101894815
GRCh38:
Chr9:99132533
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(May 26, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:101894847
GRCh38:
Chr9:99132565
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 7, 2014)
no assertion criteria provided
42.
GRCh37:
Chr9:101894856
GRCh38:
Chr9:99132574
TGFBR1not specifiedUncertain significance
(Apr 21, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:101894862
GRCh38:
Chr9:99132580
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not specified
Conflicting interpretations of pathogenicity
(Jan 13, 2017)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr9:101894866
GRCh38:
Chr9:99132584
TGFBR1not specifiedUncertain significance
(Dec 19, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:101894875
GRCh38:
Chr9:99132593
TGFBR1not specifiedUncertain significance
(May 26, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:101894881
GRCh38:
Chr9:99132599
TGFBR1not specifiedUncertain significance
(Jul 23, 2013)
criteria provided, single submitter
47.
GRCh37:
Chr9:101894904
GRCh38:
Chr9:99132622
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not specified
Conflicting interpretations of pathogenicity
(Jan 26, 2017)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr9:101894916
GRCh38:
Chr9:99132634
TGFBR1Thoracic aortic aneurysm and aortic dissectionPathogenic
(Apr 21, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:101894926
GRCh38:
Chr9:99132644
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:101894937
GRCh38:
Chr9:99132655
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:101894947
GRCh38:
Chr9:99132665
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 2, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:101894949
GRCh38:
Chr9:99132667
TGFBR1not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr9:101894968
GRCh38:
Chr9:99132686
TGFBR1Loeys-Dietz syndrome 1Pathogenic
(Mar 1, 2008)
no assertion criteria provided
54.
GRCh37:
Chr9:101894975
GRCh38:
Chr9:99132693
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr9:101895005
GRCh38:
Chr9:99132723
TGFBR1not specifiedLikely benign
(Jun 8, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:101895039
GRCh38:
Chr9:99132757
TGFBR1not specifiedBenign
(Mar 30, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr9:101900132
GRCh38:
Chr9:99137850
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr9:101900148
GRCh38:
Chr9:99137866
TGFBR1not specifiedLikely benign
(Sep 15, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr9:101900152
GRCh38:
Chr9:99137870
TGFBR1not specifiedUncertain significance
(Nov 15, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr9:101900153
GRCh38:
Chr9:99137871
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Apr 20, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr9:101900162
GRCh38:
Chr9:99137880
TGFBR1not specifiedUncertain significance
(Nov 2, 2011)
criteria provided, single submitter
62.
GRCh37:
Chr9:101900165
GRCh38:
Chr9:99137883
TGFBR1Loeys-Dietz syndrome 1Pathogenic
(Mar 1, 2005)
no assertion criteria provided
63.
GRCh37:
Chr9:101900177
GRCh38:
Chr9:99137895
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 21, 2015)
criteria provided, single submitter
64.
GRCh37:
Chr9:101900179
GRCh38:
Chr9:99137897
TGFBR1not specifiedUncertain significance
(Apr 5, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr9:101900184
GRCh38:
Chr9:99137902
TGFBR1not specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr9:101900206
GRCh38:
Chr9:99137924
TGFBR1not specifiedUncertain significance
(Mar 1, 2008)
criteria provided, single submitter
67.
GRCh37:
Chr9:101900214
GRCh38:
Chr9:99137932
TGFBR1not specifiedUncertain significance
(May 29, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr9:101900221
GRCh38:
Chr9:99137939
TGFBR1not specifiedUncertain significance
(Dec 9, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr9:101900232
GRCh38:
Chr9:99137950
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr9:101900245
GRCh38:
Chr9:99137963
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 10, 2017)
criteria provided, single submitter
71.
GRCh37:
Chr9:101900246
GRCh38:
Chr9:99137964
TGFBR1not providedLikely pathogenic
(Sep 5, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr9:101900249-101900251
GRCh38:
Chr9:99137967-99137969
TGFBR1not providedPathogenic
(Jan 15, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr9:101900262
GRCh38:
Chr9:99137980
TGFBR1not providedLikely pathogenic
(Apr 14, 2013)
criteria provided, single submitter
74.
GRCh37:
Chr9:101900266
GRCh38:
Chr9:99137984
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 27, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:101900273
GRCh38:
Chr9:99137991
TGFBR1not providedLikely pathogenic
(Jun 19, 2015)
criteria provided, single submitter
76.
GRCh37:
Chr9:101900275
GRCh38:
Chr9:99137993
TGFBR1not specifiedUncertain significance
(Feb 24, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:101900288
GRCh38:
Chr9:99138006
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection,
not provided
Pathogenic/Likely pathogenic
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr9:101900289
GRCh38:
Chr9:99138007
TGFBR1not specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr9:101900290
GRCh38:
Chr9:99138008
TGFBR1not providedLikely pathogenic
(May 13, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr9:101900299
GRCh38:
Chr9:99138017
TGFBR1not specifiedUncertain significance
(Jan 5, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr9:101900323
GRCh38:
Chr9:99138041
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely pathogenic
(Nov 14, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr9:101900324
GRCh38:
Chr9:99138042
TGFBR1not providedLikely pathogenic
(Aug 18, 2014)
criteria provided, single submitter
83.
GRCh37:
Chr9:101900345
GRCh38:
Chr9:99138063
TGFBR1not specifiedUncertain significance
(Feb 21, 2012)
criteria provided, single submitter
84.
GRCh37:
Chr9:101900362
GRCh38:
Chr9:99138080
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 10, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr9:101900363
GRCh38:
Chr9:99138081
TGFBR1not providedPathogenic
(Dec 4, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr9:101900365
GRCh38:
Chr9:99138083
TGFBR1not specifiedUncertain significance
(May 9, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr9:101900410
GRCh38:
Chr9:99138128
TGFBR1not specifiedBenigncriteria provided, single submitter
88.
GRCh37:
Chr9:101904816
GRCh38:
Chr9:99142534
TGFBR1Multiple self healing squamous epitheliomarisk factor
(Feb 27, 2011)
no assertion criteria provided
89.
GRCh37:
Chr9:101904822
GRCh38:
Chr9:99142540
TGFBR1Thoracic aortic aneurysm and aortic dissectionLikely benign
(Oct 8, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr9:101904832
GRCh38:
Chr9:99142550
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jan 21, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr9:101904832
GRCh38:
Chr9:99142550
TGFBR1not providedLikely pathogenic
(Sep 5, 2014)
criteria provided, single submitter
92.
GRCh37:
Chr9:101904836
GRCh38:
Chr9:99142554
TGFBR1not providedLikely pathogenic
(May 29, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr9:101904840
GRCh38:
Chr9:99142558
TGFBR1Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr9:101904847
GRCh38:
Chr9:99142565
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Oct 4, 2015)
criteria provided, single submitter
95.
GRCh37:
Chr9:101904856
GRCh38:
Chr9:99142574
TGFBR1not specifiedUncertain significance
(May 1, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr9:101904860
GRCh38:
Chr9:99142578
TGFBR1not specifiedUncertain significance
(Mar 24, 2017)
criteria provided, single submitter
97.
GRCh37:
Chr9:101904872
GRCh38:
Chr9:99142590
TGFBR1not specifiedUncertain significance
(Jan 14, 2015)
criteria provided, single submitter
98.
GRCh37:
Chr9:101904946
GRCh38:
Chr9:99142664
TGFBR1Loeys-Dietz syndrome, Thoracic aortic aneurysm and aortic dissection, not provided
Conflicting interpretations of pathogenicity
(Nov 23, 2016)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr9:101904947
GRCh38:
Chr9:99142665
TGFBR1Thoracic aortic aneurysm and aortic dissection, Marfanoid habitusUncertain significance
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr9:101904956
GRCh38:
Chr9:99142674
TGFBR1Thoracic aortic aneurysm and aortic dissectionUncertain significance
(May 22, 2016)
criteria provided, single submitter
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