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Items: 1 to 100 of 4361

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:46334500-54488025
GRCh38:
Chr15:46042302-54195828
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057879
2.
GRCh37:
Chr15:47753041-52786419
GRCh38:
Chr15:47460844-52494222
See casesPathogenic
(Feb 18, 2011)
no assertion criteria providedVCV000146334
3.
GRCh37:
Chr15:48700513
GRCh38:
Chr15:48408316
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Geleophysic dysplasia,
Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Marfan syndrome
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316296
4.
GRCh37:
Chr15:48700549
GRCh38:
Chr15:48408352
FBN1Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316297
5.
GRCh37:
Chr15:48700593
GRCh38:
Chr15:48408396
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Marfan syndrome,
Acromicric dysplasia, Weill-Marchesani syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316298
6.
GRCh37:
Chr15:48700595
GRCh38:
Chr15:48408398
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, isolated, autosomal dominant, Stiff skin syndrome, Weill-Marchesani syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000887646
7.
GRCh37:
Chr15:48700609
GRCh38:
Chr15:48408412
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Marfan syndrome,
Acromicric dysplasia, Weill-Marchesani syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316299
8.
GRCh37:
Chr15:48700631
GRCh38:
Chr15:48408434
FBN1Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316300
9.
GRCh37:
Chr15:48700654
GRCh38:
Chr15:48408457
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Marfan syndrome,
Acromicric dysplasia, Weill-Marchesani syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316301
10.
GRCh37:
Chr15:48700663
GRCh38:
Chr15:48408466
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Marfan syndrome,
Weill-Marchesani syndrome, Acromicric dysplasia, Geleophysic dysplasia,
Ectopia lentis, isolated, autosomal dominant
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316302
11.
GRCh37:
Chr15:48700744
GRCh38:
Chr15:48408547
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Marfan syndrome, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316303
12.
GRCh37:
Chr15:48700766
GRCh38:
Chr15:48408569
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Marfan syndrome,
Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316304
13.
GRCh37:
Chr15:48700789
GRCh38:
Chr15:48408592
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316305
14.
GRCh37:
Chr15:48700792
GRCh38:
Chr15:48408595
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316306
15.
GRCh37:
Chr15:48700827
GRCh38:
Chr15:48408630
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316307
16.
GRCh37:
Chr15:48700927
GRCh38:
Chr15:48408730
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316308
17.
GRCh37:
Chr15:48700966
GRCh38:
Chr15:48408769
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Acromicric dysplasia, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316309
18.
GRCh37:
Chr15:48701029
GRCh38:
Chr15:48408832
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316310
19.
GRCh37:
Chr15:48701034
GRCh38:
Chr15:48408837
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316311
20.
GRCh37:
Chr15:48701073
GRCh38:
Chr15:48408876
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316312
21.
GRCh37:
Chr15:48701096
GRCh38:
Chr15:48408899
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316313
22.
GRCh37:
Chr15:48701109
GRCh38:
Chr15:48408912
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316314
23.
GRCh37:
Chr15:48701142
GRCh38:
Chr15:48408945
FBN1Weill-Marchesani syndrome, Ectopia lentis, isolated, autosomal dominant, Geleophysic dysplasia,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Acromicric dysplasia
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000884619
24.
GRCh37:
Chr15:48701143
GRCh38:
Chr15:48408946
FBN1Weill-Marchesani syndrome, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Stiff skin syndrome, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884620
25.
GRCh37:
Chr15:48701147
GRCh38:
Chr15:48408950
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316315
26.
GRCh37:
Chr15:48701150
GRCh38:
Chr15:48408953
FBN1Weill-Marchesani syndrome, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, Stiff skin syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886579
27.
GRCh37:
Chr15:48701163
GRCh38:
Chr15:48408966
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316316
28.
GRCh37:
Chr15:48701198
GRCh38:
Chr15:48409001
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316317
29.
GRCh37:
Chr15:48701206
GRCh38:
Chr15:48409009
FBN1Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884680
30.
GRCh37:
Chr15:48701228
GRCh38:
Chr15:48409031
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Marfan syndrome, Geleophysic dysplasia,
Ectopia lentis, isolated, autosomal dominant
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316318
31.
GRCh37:
Chr15:48701236-48701237
GRCh38:
Chr15:48409039-48409040
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316319
32.
GRCh37:
Chr15:48701238
GRCh38:
Chr15:48409041
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316320
33.
GRCh37:
Chr15:48701244
GRCh38:
Chr15:48409047
FBN1Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Marfan syndrome,
Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316321
34.
GRCh37:
Chr15:48701454
GRCh38:
Chr15:48409257
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis,
Stiff skin syndrome, MASS syndrome, Geleophysic dysplasia,
Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316322
35.
GRCh37:
Chr15:48701467
GRCh38:
Chr15:48409270
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Marfan syndrome,
Acromicric dysplasia, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316323
36.
GRCh37:
Chr15:48701481
GRCh38:
Chr15:48409284
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Marfan syndrome,
Acromicric dysplasia, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316324
37.
GRCh37:
Chr15:48701515
GRCh38:
Chr15:48409318
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316325
38.
GRCh37:
Chr15:48701552
GRCh38:
Chr15:48409355
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316326
39.
GRCh37:
Chr15:48701568
GRCh38:
Chr15:48409371
FBN1Acromicric dysplasia, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000316327
40.
GRCh37:
Chr15:48701607
GRCh38:
Chr15:48409410
FBN1Acromicric dysplasia, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316328
41.
GRCh37:
Chr15:48701612
GRCh38:
Chr15:48409415
FBN1Acromicric dysplasia, Stiff skin syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316329
42.
GRCh37:
Chr15:48701625
GRCh38:
Chr15:48409428
FBN1Stiff skin syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Geleophysic dysplasia, Ectopia lentis, isolated, autosomal dominant,
Weill-Marchesani syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316330
43.
GRCh37:
Chr15:48701703
GRCh38:
Chr15:48409506
FBN1Stiff skin syndrome, Acromicric dysplasia, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316331
44.
GRCh37:
Chr15:48701710
GRCh38:
Chr15:48409513
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316332
45.
GRCh37:
Chr15:48701750
GRCh38:
Chr15:48409553
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316333
46.
GRCh37:
Chr15:48701755
GRCh38:
Chr15:48409558
FBN1Marfan syndrome, Acromicric dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885745
47.
GRCh37:
Chr15:48701789
GRCh38:
Chr15:48409592
FBN1Stiff skin syndrome, Acromicric dysplasia, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316334
48.
GRCh37:
Chr15:48701791
GRCh38:
Chr15:48409594
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316335
49.
GRCh37:
Chr15:48701812
GRCh38:
Chr15:48409615
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Acromicric dysplasia, Marfan syndrome, Ectopia lentis, isolated, autosomal dominant
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000888017
50.
GRCh37:
Chr15:48701819
GRCh38:
Chr15:48409622
FBN1Acromicric dysplasia, Stiff skin syndrome, Geleophysic dysplasia,
Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316336
51.
GRCh37:
Chr15:48701846
GRCh38:
Chr15:48409649
FBN1Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia
Uncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000884892
52.
GRCh37:
Chr15:48701862
GRCh38:
Chr15:48409665
FBN1Acromicric dysplasia, Stiff skin syndrome, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316337
53.
GRCh37:
Chr15:48701889
GRCh38:
Chr15:48409692
FBN1Acromicric dysplasia, Stiff skin syndrome, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316338
54.
GRCh37:
Chr15:48701935
GRCh38:
Chr15:48409738
FBN1Acromicric dysplasia, Stiff skin syndrome, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316339
55.
GRCh37:
Chr15:48701938
GRCh38:
Chr15:48409741
FBN1Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000884967
56.
GRCh37:
Chr15:48701942
GRCh38:
Chr15:48409745
FBN1Acromicric dysplasia, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000316340
57.
GRCh37:
Chr15:48701959
GRCh38:
Chr15:48409762
FBN1Acromicric dysplasia, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Geleophysic dysplasia, Marfan syndrome, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316341
58.
GRCh37:
Chr15:48701986
GRCh38:
Chr15:48409789
FBN1Marfan syndrome, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome,
Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886871
59.
GRCh37:
Chr15:48702065
GRCh38:
Chr15:48409868
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000888152
60.
GRCh37:
Chr15:48702103
GRCh38:
Chr15:48409906
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Ectopia lentis, isolated, autosomal dominant, Geleophysic dysplasia, Marfan syndrome,
Weill-Marchesani syndrome
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316342
61.
GRCh37:
Chr15:48702180
GRCh38:
Chr15:48409983
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Weill-Marchesani syndrome, Acromicric dysplasia,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316343
62.
GRCh37:
Chr15:48702200
GRCh38:
Chr15:48410003
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316344
63.
GRCh37:
Chr15:48702219
GRCh38:
Chr15:48410022
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Ectopia lentis, isolated, autosomal dominant, Marfan syndrome, Weill-Marchesani syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885033
64.
GRCh37:
Chr15:48702220
GRCh38:
Chr15:48410023
FBN1Acromicric dysplasia, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia,
Weill-Marchesani syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316345
65.
GRCh37:
Chr15:48702227
GRCh38:
Chr15:48410030
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316346
66.
GRCh37:
Chr15:48702239
GRCh38:
Chr15:48410042
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Ectopia lentis, isolated, autosomal dominant, Acromicric dysplasia, Geleophysic dysplasia,
Marfan syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316347
67.
GRCh37:
Chr15:48702249
GRCh38:
Chr15:48410052
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316348
68.
GRCh37:
Chr15:48702320
GRCh38:
Chr15:48410123
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Geleophysic dysplasia,
Marfan syndrome
Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316349
69.
GRCh37:
Chr15:48702342
GRCh38:
Chr15:48410145
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000885095
70.
GRCh37:
Chr15:48702408
GRCh38:
Chr15:48410211
FBN1Geleophysic dysplasia, Acromicric dysplasia, Stiff skin syndrome,
Ectopia lentis, isolated, autosomal dominant, Marfan syndrome, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000885096
71.
GRCh37:
Chr15:48702423
GRCh38:
Chr15:48410226
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Geleophysic dysplasia,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000316350
72.
GRCh37:
Chr15:48702457
GRCh38:
Chr15:48410260
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Geleophysic dysplasia,
Marfan syndrome
Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000316351
73.
GRCh37:
Chr15:48702463
GRCh38:
Chr15:48410266
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Acromicric dysplasia, Marfan syndrome, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316352
74.
GRCh37:
Chr15:48702781
GRCh38:
Chr15:48410584
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316353
75.
GRCh37:
Chr15:48702788
GRCh38:
Chr15:48410591
FBN1Ectopia lentis, isolated, autosomal dominant, Marfan syndrome, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886074
76.
GRCh37:
Chr15:48702862
GRCh38:
Chr15:48410665
FBN1Ectopia lentis, isolated, autosomal dominant, Marfan syndrome, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000886075
77.
GRCh37:
Chr15:48702873
GRCh38:
Chr15:48410676
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant,
Acromicric dysplasia, Marfan syndrome, Geleophysic dysplasia,
Familial thoracic aortic aneurysm and aortic dissection
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316354
78.
GRCh37:
Chr15:48702876
GRCh38:
Chr15:48410679
FBN1Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Acromicric dysplasia,
Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000885245
79.
GRCh37:
Chr15:48702887
GRCh38:
Chr15:48410690
FBN1Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Acromicric dysplasia,
Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000885246
80.
GRCh37:
Chr15:48702901
GRCh38:
Chr15:48410704
FBN1Marfan syndrome, Ectopia lentis, Stiff skin syndrome,
MASS syndrome, Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Weill-Marchesani syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316355
81.
GRCh37:
Chr15:48702919
GRCh38:
Chr15:48410722
FBN1Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Geleophysic dysplasia, Marfan syndrome,
Weill-Marchesani syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000316356
82.
GRCh37:
Chr15:48702933
GRCh38:
Chr15:48410736
FBN1Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Geleophysic dysplasia, Marfan syndrome,
Weill-Marchesani syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000316357
83.
GRCh37:
Chr15:48702934
GRCh38:
Chr15:48410737
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, isolated, autosomal dominant, Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000888414
84.
GRCh37:
Chr15:48702935
GRCh38:
Chr15:48410738
FBN1Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Stiff skin syndrome,
Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Apr 20, 2018)
criteria provided, single submitterVCV000885308
85.
GRCh37:
Chr15:48702952
GRCh38:
Chr15:48410755
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000885309
86.
GRCh37:
Chr15:48702984-48702985
GRCh38:
Chr15:48410787-48410788
FBN1Ectopia lentis, Stiff skin syndrome, MASS syndrome,
Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316358
87.
GRCh37:
Chr15:48703080
GRCh38:
Chr15:48410883
FBN1Ectopia lentis, isolated, autosomal dominant, Weill-Marchesani syndrome, Marfan syndrome,
Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886213
88.
GRCh37:
Chr15:48703130
GRCh38:
Chr15:48410933
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Stiff skin syndrome, Ectopia lentis, isolated, autosomal dominant, Marfan syndrome,
Geleophysic dysplasia
Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000316359
89.
GRCh37:
Chr15:48703144
GRCh38:
Chr15:48410947
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia,
Acromicric dysplasia, Ectopia lentis, isolated, autosomal dominant, Stiff skin syndrome,
Marfan syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000888468
90.
GRCh37:
Chr15:48703167-48726930
GRCh38:
Chr15:48410970-48434733
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jun 11, 2018)
criteria provided, single submitterVCV000584144
91.
GRCh37:
Chr15:48703167-48704960
GRCh38:
Chr15:48410970-48412763
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Mar 1, 2018)
criteria provided, single submitterVCV000584073
92.
GRCh38:
Chr15:48410970-48644789
FBN1, LOC113939944Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 25, 2018)
criteria provided, single submitterVCV000457152
93.
GRCh38:
Chr15:48410970-48537828
FBN1, LOC113939944Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Oct 4, 2018)
criteria provided, single submitterVCV000457151
94.
GRCh37:
Chr15:48703167-48789608
GRCh38:
Chr15:48410970-48497411
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Jul 14, 2017)
criteria provided, single submitterVCV000457150
95.
GRCh37:
Chr15:48703187-48748959
GRCh38:
Chr15:48410990-48456762
FBN1Marfan syndromePathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000560348
96.
GRCh37:
Chr15:48703187
GRCh38:
Chr15:48410990
FBN1not specified, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Familial thoracic aortic aneurysm and aortic dissection
Conflicting interpretations of pathogenicity
(Jun 4, 2019)
criteria provided, conflicting interpretationsVCV000457272
97.
GRCh37:
Chr15:48703195
GRCh38:
Chr15:48410998
FBN1L2870FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 26, 2018)
criteria provided, single submitterVCV000927302
98.
GRCh37:
Chr15:48703197-48703198
GRCh38:
Chr15:48411000-48411001
FBN1L2869fsMarfan syndromeLikely pathogenic
(Mar 1, 2008)
criteria provided, single submitterVCV000042447
99.
GRCh37:
Chr15:48703200
GRCh38:
Chr15:48411003
FBN1V2868DCardiovascular phenotypeUncertain significance
(Apr 18, 2016)
criteria provided, single submitterVCV000519710
100.
GRCh37:
Chr15:48703203
GRCh38:
Chr15:48411006
FBN1Q2867PMarfan syndromeLikely pathogenic
(Apr 14, 2009)
criteria provided, single submitterVCV000042446
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