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Items: 1 to 100 of 1814

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:127593615
GRCh38:
Chr5:128257923
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350726
2.
GRCh37:
Chr5:127593640
GRCh38:
Chr5:128257948
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000904474
3.
GRCh37:
Chr5:127593725-127593726
GRCh38:
Chr5:128258033-128258034
FBN2Congenital contractural arachnodactylyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000350727
4.
GRCh37:
Chr5:127593727
GRCh38:
Chr5:128258035
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350728
5.
GRCh37:
Chr5:127593732
GRCh38:
Chr5:128258040
FBN2Congenital contractural arachnodactylyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000350729
6.
GRCh37:
Chr5:127593832
GRCh38:
Chr5:128258140
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350730
7.
GRCh37:
Chr5:127593870
GRCh38:
Chr5:128258178
FBN2Congenital contractural arachnodactylyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000350731
8.
GRCh37:
Chr5:127593908
GRCh38:
Chr5:128258216
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350732
9.
GRCh37:
Chr5:127593956
GRCh38:
Chr5:128258264
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350733
10.
GRCh37:
Chr5:127594015
GRCh38:
Chr5:128258323
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350734
11.
GRCh37:
Chr5:127594029
GRCh38:
Chr5:128258337
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350735
12.
GRCh37:
Chr5:127594036
GRCh38:
Chr5:128258344
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350737
13.
GRCh37:
Chr5:127594036
GRCh38:
Chr5:128258344
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350736
14.
GRCh37:
Chr5:127594045
GRCh38:
Chr5:128258353
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905254
15.
GRCh37:
Chr5:127594082-127594083
GRCh38:
Chr5:128258390-128258391
FBN2Congenital contractural arachnodactylyUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000350738
16.
GRCh37:
Chr5:127594138
GRCh38:
Chr5:128258446
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905255
17.
GRCh37:
Chr5:127594185
GRCh38:
Chr5:128258493
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000905256
18.
GRCh37:
Chr5:127594268
GRCh38:
Chr5:128258576
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905257
19.
GRCh37:
Chr5:127594328
GRCh38:
Chr5:128258636
FBN2Congenital contractural arachnodactylyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000350739
20.
GRCh37:
Chr5:127594402
GRCh38:
Chr5:128258710
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000350740
21.
GRCh37:
Chr5:127594414
GRCh38:
Chr5:128258722
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350741
22.
GRCh37:
Chr5:127594431
GRCh38:
Chr5:128258739
FBN2Congenital contractural arachnodactylyUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000906852
23.
GRCh37:
Chr5:127594461
GRCh38:
Chr5:128258769
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906853
24.
GRCh37:
Chr5:127594476
GRCh38:
Chr5:128258784
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350742
25.
GRCh37:
Chr5:127594505
GRCh38:
Chr5:128258813
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000906854
26.
GRCh37:
Chr5:127594512
GRCh38:
Chr5:128258820
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350743
27.
GRCh37:
Chr5:127594590
GRCh38:
Chr5:128258898
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350744
28.
GRCh37:
Chr5:127594633
GRCh38:
Chr5:128258941
FBN2Congenital contractural arachnodactylyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000350745
29.
GRCh37:
Chr5:127594775
GRCh38:
Chr5:128259083
FBN2Congenital contractural arachnodactylyLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000350746
30.
GRCh37:
Chr5:127594776
GRCh38:
Chr5:128259084
FBN2Congenital contractural arachnodactylyLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000350747
31.
GRCh37:
Chr5:127594823-127594824
GRCh38:
Chr5:128259131-128259132
FBN2not provided, Congenital contractural arachnodactylyConflicting interpretations of pathogenicity
(Aug 10, 2019)
criteria provided, conflicting interpretationsVCV000350749
32.
GRCh37:
Chr5:127594823-127594824
GRCh38:
Chr5:128259131-128259132
FBN2not provided, Congenital contractural arachnodactylyConflicting interpretations of pathogenicity
(Aug 18, 2019)
criteria provided, conflicting interpretationsVCV000350748
33.
GRCh37:
Chr5:127594863
GRCh38:
Chr5:128259171
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350750
34.
GRCh37:
Chr5:127594873
GRCh38:
Chr5:128259181
FBN2Congenital contractural arachnodactylyBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000907846
35.
GRCh37:
Chr5:127594874
GRCh38:
Chr5:128259182
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350751
36.
GRCh37:
Chr5:127594903
GRCh38:
Chr5:128259211
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350752
37.
GRCh37:
Chr5:127594913
GRCh38:
Chr5:128259221
FBN2Congenital contractural arachnodactylyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000907847
38.
GRCh37:
Chr5:127595028
GRCh38:
Chr5:128259336
FBN2Congenital contractural arachnodactylyBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000350753
39.
GRCh37:
Chr5:127595046-127595048
GRCh38:
Chr5:128259354-128259356
FBN2not provided, Congenital contractural arachnodactylyLikely benign
(Jun 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000350754
40.
GRCh37:
Chr5:127595047
GRCh38:
Chr5:128259355
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350755
41.
GRCh37:
Chr5:127595153
GRCh38:
Chr5:128259461
FBN2Congenital contractural arachnodactyly, Cardiovascular phenotype, not provided,
not specified, none provided
Benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000137357
42.
GRCh37:
Chr5:127595155
GRCh38:
Chr5:128259463
FBN2L2911ICongenital contractural arachnodactylyUncertain significance
(Nov 19, 2018)
criteria provided, single submitterVCV000641578
43.
GRCh37:
Chr5:127595157
GRCh38:
Chr5:128259465
FBN2Q2910RCongenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000904534
44.
GRCh37:
Chr5:127595183
GRCh38:
Chr5:128259491
FBN2Congenital contractural arachnodactylyLikely benign
(May 4, 2020)
criteria provided, single submitterVCV001099234
45.
GRCh37:
Chr5:127595185
GRCh38:
Chr5:128259493
FBN2E2901Knot provided, Congenital contractural arachnodactylyUncertain significance
(Apr 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000213378
46.
GRCh37:
Chr5:127595194
GRCh38:
Chr5:128259502
FBN2E2898*not providedUncertain significance
(Jan 6, 2016)
criteria provided, single submitterVCV000234749
47.
GRCh37:
Chr5:127595195
GRCh38:
Chr5:128259503
FBN2Congenital contractural arachnodactylyLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV000698086
48.
GRCh37:
Chr5:127595205
GRCh38:
Chr5:128259513
FBN2Y2894Snot providedUncertain significance
(Oct 4, 2019)
criteria provided, single submitterVCV001214720
49.
GRCh37:
Chr5:127595205
GRCh38:
Chr5:128259513
FBN2Y2894CCongenital contractural arachnodactylyUncertain significance
(Jun 20, 2019)
criteria provided, single submitterVCV000935217
50.
GRCh37:
Chr5:127595208
GRCh38:
Chr5:128259516
FBN2D2893Vnot provided, Congenital contractural arachnodactylyUncertain significance
(Sep 26, 2018)
criteria provided, multiple submitters, no conflictsVCV000213432
51.
GRCh37:
Chr5:127595209
GRCh38:
Chr5:128259517
FBN2D2893NCongenital contractural arachnodactylyUncertain significance
(Oct 28, 2020)
criteria provided, single submitterVCV001010010
52.
GRCh37:
Chr5:127595211
GRCh38:
Chr5:128259519
FBN2D2892Gnone provided, not providedUncertain significance
(Jun 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000994415
53.
GRCh37:
Chr5:127595212
GRCh38:
Chr5:128259520
FBN2D2892Ynot provided, Congenital contractural arachnodactylyBenign/Likely benign
(Oct 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000213377
54.
GRCh37:
Chr5:127595218
GRCh38:
Chr5:128259526
FBN2N2890DCongenital contractural arachnodactylyUncertain significance
(Jun 5, 2018)
criteria provided, single submitterVCV000576355
55.
GRCh37:
Chr5:127595238
GRCh38:
Chr5:128259546
FBN2L2883Pnot providedUncertain significance
(Nov 1, 2018)
criteria provided, single submitterVCV000213431
56.
GRCh37:
Chr5:127595242
GRCh38:
Chr5:128259550
FBN2E2882Qnot provided, Congenital contractural arachnodactylyUncertain significance
(May 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000213430
57.
GRCh37:
Chr5:127595263
GRCh38:
Chr5:128259571
FBN2I2875VCongenital contractural arachnodactylyUncertain significance
(Sep 9, 2017)
criteria provided, single submitterVCV000528418
58.
GRCh37:
Chr5:127595280
GRCh38:
Chr5:128259588
FBN2T2869KCongenital contractural arachnodactylyUncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000850304
59.
GRCh37:
Chr5:127595285
GRCh38:
Chr5:128259593
FBN2Congenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350756
60.
GRCh37:
Chr5:127595289
GRCh38:
Chr5:128259597
FBN2G2866VCardiovascular phenotypeUncertain significance
(Feb 21, 2019)
criteria provided, single submitterVCV000263471
61.
GRCh37:
Chr5:127595290
GRCh38:
Chr5:128259598
FBN2G2866Snot provided, Congenital contractural arachnodactyly, Macular degeneration, early-onset
Uncertain significance
(Apr 22, 2020)
criteria provided, multiple submitters, no conflictsVCV000634470
62.
GRCh37:
Chr5:127595291
GRCh38:
Chr5:128259599
FBN2not provided, Congenital contractural arachnodactylyLikely benign
(Jun 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000383156
63.
GRCh37:
Chr5:127595297
GRCh38:
Chr5:128259605
FBN2Cardiovascular phenotypeLikely benign
(Sep 24, 2012)
criteria provided, single submitterVCV000263395
64.
GRCh37:
Chr5:127595312
GRCh38:
Chr5:128259620
FBN2Congenital contractural arachnodactylyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000350757
65.
GRCh37:
Chr5:127595313
GRCh38:
Chr5:128259621
FBN2T2858Mnot providedUncertain significance
(Apr 11, 2019)
criteria provided, single submitterVCV001305089
66.
GRCh37:
Chr5:127595327
GRCh38:
Chr5:128259635
FBN2not providedLikely benign
(Apr 2, 2018)
criteria provided, single submitterVCV000680879
67.
GRCh37:
Chr5:127595334
GRCh38:
Chr5:128259642
FBN2N2851SCongenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000350758
68.
GRCh37:
Chr5:127595339
GRCh38:
Chr5:128259647
FBN2Congenital contractural arachnodactyly, Macular degeneration, early-onsetUncertain significance
(Mar 27, 2018)
criteria provided, single submitterVCV000626104
69.
GRCh37:
Chr5:127595343
GRCh38:
Chr5:128259651
FBN2H2848RCongenital contractural arachnodactylyUncertain significance
(Jan 28, 2020)
criteria provided, single submitterVCV001011690
70.
GRCh37:
Chr5:127595345
GRCh38:
Chr5:128259653
FBN2I2847MCongenital contractural arachnodactylyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905323
71.
GRCh37:
Chr5:127595349
GRCh38:
Chr5:128259657
FBN2R2846LCongenital contractural arachnodactylyUncertain significance
(Nov 13, 2019)
criteria provided, single submitterVCV000971720
72.
GRCh37:
Chr5:127595349
GRCh38:
Chr5:128259657
FBN2R2846HCardiovascular phenotype, Congenital contractural arachnodactyly, not provided
Likely benign
(Mar 31, 2021)
criteria provided, multiple submitters, no conflictsVCV000213376
73.
GRCh37:
Chr5:127595356
GRCh38:
Chr5:128259664
FBN2V2844ICongenital contractural arachnodactyly, not specifiedConflicting interpretations of pathogenicity
(Apr 22, 2019)
criteria provided, conflicting interpretationsVCV000213258
74.
GRCh37:
Chr5:127595366
GRCh38:
Chr5:128259674
FBN2N2840Knot providedUncertain significance
(Oct 16, 2020)
criteria provided, single submitterVCV001191968
75.
GRCh37:
Chr5:127595366
GRCh38:
Chr5:128259674
FBN2not providedLikely benign
(Apr 9, 2021)
criteria provided, single submitterVCV000681713
76.
GRCh37:
Chr5:127595373
GRCh38:
Chr5:128259681
FBN2Q2838RCardiovascular phenotypeUncertain significance
(Jan 16, 2014)
criteria provided, single submitterVCV000263810
77.
GRCh37:
Chr5:127595380
GRCh38:
Chr5:128259688
FBN2I2836Vnot providedUncertain significance
(Oct 15, 2019)
criteria provided, single submitterVCV001309361
78.
GRCh37:
Chr5:127595384-127595385
GRCh38:
Chr5:128259692-128259693
FBN2Y2834*Congenital contractural arachnodactylyUncertain significance
(Apr 19, 2017)
criteria provided, single submitterVCV000411816
79.
GRCh37:
Chr5:127595388
GRCh38:
Chr5:128259696
FBN2R2833Hnot provided, Cardiovascular phenotypeUncertain significance
(Sep 7, 2015)
criteria provided, multiple submitters, no conflictsVCV000213375
80.
GRCh37:
Chr5:127595389
GRCh38:
Chr5:128259697
FBN2R2833Cnot provided, Congenital contractural arachnodactylyUncertain significance
(Feb 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000213374
81.
GRCh37:
Chr5:127595396
GRCh38:
Chr5:128259704
FBN2not providedLikely benign
(Aug 16, 2018)
criteria provided, single submitterVCV000762158
82.
GRCh37:
Chr5:127595404
GRCh38:
Chr5:128259712
FBN2L2828Fnot providedUncertain significance
(Jun 4, 2019)
criteria provided, single submitterVCV001306361
83.
GRCh37:
Chr5:127595405
GRCh38:
Chr5:128259713
FBN2Cardiovascular phenotypeLikely benign
(Mar 3, 2015)
criteria provided, single submitterVCV000263929
84.
GRCh37:
Chr5:127595408
GRCh38:
Chr5:128259716
FBN2Q2826Hnot providedUncertain significance
(Nov 6, 2020)
criteria provided, single submitterVCV001313655
85.
GRCh37:
Chr5:127595417
GRCh38:
Chr5:128259725
FBN2Cardiovascular phenotype, Congenital contractural arachnodactyly, not specified
Benign/Likely benign
(Sep 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000137356
86.
GRCh37:
Chr5:127595428
GRCh38:
Chr5:128259736
FBN2E2820Knot providedUncertain significance
(Dec 4, 2020)
criteria provided, single submitterVCV000450503
87.
GRCh37:
Chr5:127595442
GRCh38:
Chr5:128259750
FBN2K2815TMacular degeneration, early-onset, Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000528397
88.
GRCh37:
Chr5:127595458
GRCh38:
Chr5:128259766
FBN2S2810TCongenital contractural arachnodactyly, not providedLikely benign
(Jul 29, 2020)
criteria provided, multiple submitters, no conflictsVCV000679472
89.
GRCh37:
Chr5:127595460
GRCh38:
Chr5:128259768
FBN2L2809PCongenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000213373
90.
GRCh37:
Chr5:127595461
GRCh38:
Chr5:128259769
FBN2L2809FCongenital contractural arachnodactylyUncertain significance
(Jan 19, 2019)
criteria provided, single submitterVCV000846176
91.
GRCh37:
Chr5:127595463
GRCh38:
Chr5:128259771
FBN2N2808SCongenital contractural arachnodactylyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000905324
92.
GRCh37:
Chr5:127595469
GRCh38:
Chr5:128259777
FBN2K2806MCongenital contractural arachnodactylyUncertain significance
(Mar 1, 2020)
criteria provided, single submitterVCV000843359
93.
GRCh37:
Chr5:127595473
GRCh38:
Chr5:128259781
FBN2M2805VCongenital contractural arachnodactylyUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001017420
94.
GRCh37:
Chr5:127595480
GRCh38:
Chr5:128259788
FBN2Congenital contractural arachnodactylyLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001123277
95.
GRCh37:
Chr5:127595499
GRCh38:
Chr5:128259807
FBN2S2796Tnot providedUncertain significance
(Oct 16, 2014)
criteria provided, single submitterVCV000213372
96.
GRCh37:
Chr5:127595510
GRCh38:
Chr5:128259818
FBN2I2792MCongenital contractural arachnodactyly, Congenital contractural arachnodactyly, Macular degeneration, early-onset,
not provided
Conflicting interpretations of pathogenicity
(Jun 9, 2021)
criteria provided, conflicting interpretationsVCV000350759
97.
GRCh37:
Chr5:127595510
GRCh38:
Chr5:128259818
FBN2Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Sep 15, 2015)
criteria provided, single submitterVCV000222631
98.
GRCh37:
Chr5:127595525
GRCh38:
Chr5:128259833
FBN2Congenital contractural arachnodactylyLikely benign
(Jul 30, 2019)
criteria provided, single submitterVCV000239094
99.
GRCh37:
Chr5:127595526
GRCh38:
Chr5:128259834
FBN2Congenital contractural arachnodactylyLikely benign
(Jun 26, 2019)
criteria provided, single submitterVCV000756970
100.
GRCh37:
Chr5:127595528
GRCh38:
Chr5:128259836
FBN2Congenital contractural arachnodactylyUncertain significance
(Oct 10, 2020)
criteria provided, single submitterVCV001016993
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