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Items: 1 to 100 of 411

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:127595153
GRCh38:
Chr5:128259461
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr5:127595185
GRCh38:
Chr5:128259493
FBN2not specifiedUncertain significance
(Jul 10, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr5:127595194
GRCh38:
Chr5:128259502
FBN2not specifiedUncertain significance
(Jan 6, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr5:127595208
GRCh38:
Chr5:128259516
FBN2not specifiedUncertain significance
(Oct 3, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr5:127595212
GRCh38:
Chr5:128259520
FBN2not specifiedUncertain significance
(Nov 1, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr5:127595238
GRCh38:
Chr5:128259546
FBN2not specifiedUncertain significance
(Aug 18, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr5:127595242
GRCh38:
Chr5:128259550
FBN2Congenital contractural arachnodactyly, not specifiedUncertain significance
(Jan 31, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:127595291
GRCh38:
Chr5:128259599
FBN2not specifiedLikely benign
(Jan 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr5:127595349
GRCh38:
Chr5:128259657
FBN2Congenital contractural arachnodactyly, not specifiedConflicting interpretations of pathogenicity
(Apr 25, 2017)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr5:127595356
GRCh38:
Chr5:128259664
FBN2not specifiedLikely benign
(Mar 27, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr5:127595388
GRCh38:
Chr5:128259696
FBN2Thoracic aortic aneurysm and aortic dissection, not specifiedUncertain significance
(Sep 7, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr5:127595389
GRCh38:
Chr5:128259697
FBN2not specifiedUncertain significance
(May 4, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr5:127595417
GRCh38:
Chr5:128259725
FBN2not specifiedBenign
(Jun 1, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr5:127595499
GRCh38:
Chr5:128259807
FBN2not specifiedUncertain significance
(Oct 16, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr5:127597421
GRCh38:
Chr5:128261729
FBN2Congenital contractural arachnodactyly, not specifiedBenign/Likely benign
(Dec 16, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr5:127597441
GRCh38:
Chr5:128261749
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Sep 27, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr5:127597445
GRCh38:
Chr5:128261753
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr5:127597448
GRCh38:
Chr5:128261756
FBN2not specifiedLikely benign
(Sep 12, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr5:127597460
GRCh38:
Chr5:128261768
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr5:127597488
GRCh38:
Chr5:128261796
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr5:127597510
GRCh38:
Chr5:128261818
FBN2Congenital contractural arachnodactyly, not specifiedUncertain significance
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr5:127597513
GRCh38:
Chr5:128261821
FBN2not specifiedUncertain significance
(Sep 3, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr5:127597518
GRCh38:
Chr5:128261826
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr5:127597535
GRCh38:
Chr5:128261843
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Nov 28, 2016)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr5:127597545
GRCh38:
Chr5:128261853
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Mar 27, 2016)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr5:127597553
GRCh38:
Chr5:128261861
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr5:127597585
GRCh38:
Chr5:128261893
FBN2not specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr5:127597606
GRCh38:
Chr5:128261914
FBN2not specifiedUncertain significance
(Aug 16, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr5:127597617
GRCh38:
Chr5:128261925
FBN2not specifiedLikely benign
(Nov 23, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr5:127599111
GRCh38:
Chr5:128263419
FBN2not specifiedLikely benign
(Mar 18, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr5:127599155
GRCh38:
Chr5:128263463
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Sep 28, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr5:127599170
GRCh38:
Chr5:128263478
FBN2not specifiedLikely benign
(Aug 29, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr5:127599223
GRCh38:
Chr5:128263531
FBN2Congenital contractural arachnodactyly, not specifiedUncertain significance
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:127599227
GRCh38:
Chr5:128263535
FBN2not specifiedLikely benign
(Nov 16, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr5:127599227
GRCh38:
Chr5:128263535
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Uncertain significance
(Jan 30, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr5:127599242-127599248
GRCh38:
Chr5:128263550-128263556
FBN2not specifiedUncertain significance
(Nov 23, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr5:127599251
GRCh38:
Chr5:128263559
FBN2not specifiedUncertain significance
(Feb 19, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr5:127599260
GRCh38:
Chr5:128263568
FBN2Congenital contractural arachnodactyly, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr5:127599266
GRCh38:
Chr5:128263574
FBN2not specifiedBenign
(Aug 10, 2015)
criteria provided, single submitter
40.
GRCh37:
Chr5:127599274
GRCh38:
Chr5:128263582
FBN2not specifiedUncertain significance
(May 5, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr5:127599332
GRCh38:
Chr5:128263640
FBN2not specifiedLikely benign
(Dec 23, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr5:127599358
GRCh38:
Chr5:128263666
FBN2not specifiedBenign
(Sep 25, 2015)
criteria provided, single submitter
43.
GRCh37:
Chr5:127599367
GRCh38:
Chr5:128263675
FBN2not specifiedLikely benign
(Dec 15, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr5:127607678
GRCh38:
Chr5:128271986
FBN2not specifiedLikely benign
(Feb 18, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr5:127607686
GRCh38:
Chr5:128271994
FBN2not specifiedUncertain significance
(Oct 1, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr5:127607709
GRCh38:
Chr5:128272017
FBN2not specifiedUncertain significance
(Feb 1, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr5:127607765
GRCh38:
Chr5:128272073
FBN2not specified, not providedUncertain significance
(Mar 27, 2017)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr5:127607773
GRCh38:
Chr5:128272081
FBN2not specifiedBenign
(Aug 15, 2013)
criteria provided, single submitter
49.
GRCh37:
Chr5:127607826
GRCh38:
Chr5:128272134
FBN2not specifiedBenign
(May 13, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr5:127607827
GRCh38:
Chr5:128272135
FBN2not specifiedBenign
(Oct 18, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr5:127609548
GRCh38:
Chr5:128273856
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr5:127609633
GRCh38:
Chr5:128273941
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jun 12, 2017)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:127609665
GRCh38:
Chr5:128273973
FBN2not specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr5:127610280
GRCh38:
Chr5:128274588
FBN2not specifiedUncertain significance
(May 14, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr5:127610298
GRCh38:
Chr5:128274606
FBN2not specifiedUncertain significance
(Jan 26, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr5:127610312
GRCh38:
Chr5:128274620
FBN2not specifiedUncertain significance
(Nov 29, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr5:127610320
GRCh38:
Chr5:128274628
FBN2Congenital contractural arachnodactyly, not specifiedBenign
(Apr 3, 2016)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:127610334
GRCh38:
Chr5:128274642
FBN2not specifiedUncertain significance
(Jan 8, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr5:127610383
GRCh38:
Chr5:128274691
FBN2Congenital contractural arachnodactyly, not specifiedLikely benign
(Oct 3, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr5:127610388
GRCh38:
Chr5:128274696
FBN2not specifiedBenign
(May 18, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr5:127611718
GRCh38:
Chr5:128276026
FBN2not specifiedLikely benign
(Nov 11, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr5:127611731
GRCh38:
Chr5:128276039
FBN2Thoracic aortic aneurysm and aortic dissection, not specifiedBenign/Likely benign
(Jun 23, 2015)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:127611847
GRCh38:
Chr5:128276155
FBN2not specifiedUncertain significance
(Jun 14, 2017)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr5:127611869
GRCh38:
Chr5:128276177
FBN2not specifiedLikely benign
(Dec 28, 2015)
criteria provided, single submitter
65.
GRCh37:
Chr5:127613566
GRCh38:
Chr5:128277874
FBN2Congenital contractural arachnodactyly, not specifiedBenign
(Nov 26, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr5:127613625
GRCh38:
Chr5:128277933
FBN2Congenital contractural arachnodactyly, not specifiedConflicting interpretations of pathogenicity
(Jun 5, 2017)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr5:127613638
GRCh38:
Chr5:128277946
FBN2not specifiedUncertain significance
(Feb 14, 2017)
criteria provided, single submitter
68.
GRCh37:
Chr5:127613643
GRCh38:
Chr5:128277951
FBN2not specifiedUncertain significance
(Nov 5, 2012)
criteria provided, single submitter
69.
GRCh37:
Chr5:127613663
GRCh38:
Chr5:128277971
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Sep 1, 2016)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr5:127613674
GRCh38:
Chr5:128277982
FBN2not specifiedUncertain significance
(Dec 3, 2012)
criteria provided, single submitter
71.
GRCh37:
Chr5:127614327
GRCh38:
Chr5:128278635
FBN2not specifiedUncertain significance
(Oct 18, 2013)
criteria provided, single submitter
72.
GRCh37:
Chr5:127614341
GRCh38:
Chr5:128278649
FBN2not specifiedUncertain significance
(Apr 29, 2015)
criteria provided, single submitter
73.
GRCh37:
Chr5:127614376
GRCh38:
Chr5:128278684
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jan 17, 2017)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:127614379
GRCh38:
Chr5:128278687
FBN2not specifiedLikely benign
(Nov 18, 2015)
criteria provided, single submitter
75.
GRCh37:
Chr5:127614410
GRCh38:
Chr5:128278718
FBN2not specifiedUncertain significance
(Apr 12, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr5:127614467
GRCh38:
Chr5:128278775
FBN2not specifiedUncertain significance
(Jun 1, 2015)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:127614472
GRCh38:
Chr5:128278780
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:127614491
GRCh38:
Chr5:128278799
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified,
not provided
Conflicting interpretations of pathogenicity
(Mar 6, 2017)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr5:127614527
GRCh38:
Chr5:128278835
FBN2not specifiedUncertain significance
(Jan 18, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr5:127615937
GRCh38:
Chr5:128280245
FBN2not specifiedUncertain significance
(Jun 5, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr5:127615965
GRCh38:
Chr5:128280273
FBN2not specifiedUncertain significance
(Nov 4, 2013)
criteria provided, single submitter
82.
GRCh37:
Chr5:127615967
GRCh38:
Chr5:128280275
FBN2not specifiedUncertain significance
(May 20, 2013)
criteria provided, single submitter
83.
GRCh37:
Chr5:127616014
GRCh38:
Chr5:128280322
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jun 16, 2017)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:127616016
GRCh38:
Chr5:128280324
FBN2not specifiedBenign
(Apr 8, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr5:127622403
GRCh38:
Chr5:128286711
FBN2Congenital contractural arachnodactyly, not specifiedBenign/Likely benign
(Nov 30, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr5:127622432
GRCh38:
Chr5:128286740
FBN2Thoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:127622463
GRCh38:
Chr5:128286771
FBN2not specifiedUncertain significance
(May 26, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr5:127622467
GRCh38:
Chr5:128286775
FBN2not specifiedUncertain significance
(May 10, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr5:127622473
GRCh38:
Chr5:128286781
FBN2not specifiedUncertain significance
(Nov 18, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr5:127622474
GRCh38:
Chr5:128286782
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:127622476
GRCh38:
Chr5:128286784
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified,
not provided
Uncertain significance
(Feb 24, 2017)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:127622491
GRCh38:
Chr5:128286799
FBN2Congenital contractural arachnodactyly, Thoracic aortic aneurysm and aortic dissection, not specified
Benign
(Jun 7, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:127622499
GRCh38:
Chr5:128286807
FBN2not specifiedUncertain significance
(Apr 30, 2015)
criteria provided, single submitter
94.
GRCh37:
Chr5:127622512
GRCh38:
Chr5:128286820
FBN2Congenital contractural arachnodactyly, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr5:127622519
GRCh38:
Chr5:128286827
FBN2Thoracic aortic aneurysm and aortic dissection, not specifiedLikely benign
(Jan 13, 2017)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr5:127622983
GRCh38:
Chr5:128287291
FBN2not specifiedBenign
(Nov 2, 2012)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:127623039
GRCh38:
Chr5:128287347
FBN2not specifiedLikely benign
(Feb 6, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr5:127623040
GRCh38:
Chr5:128287348
FBN2not specifiedLikely benign
(Jun 19, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr5:127623040
GRCh38:
Chr5:128287348
FBN2Congenital contractural arachnodactyly, not specifiedBenign/Likely benign
(Jan 9, 2017)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr5:127623047
GRCh38:
Chr5:128287355
FBN2not specified, Inborn genetic diseasesUncertain significance
(Apr 28, 2017)
criteria provided, multiple submitters, no conflicts
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