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Items: 1 to 100 of 6471

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:47753041-52786419
GRCh38:
Chr15:47460844-52494222
AP4E1, ATP8B4, BCL2L10, CEP152, CERNA1, COPS2, CTXN2, CTXN2-AS1, CYP19A1, DMXL2, DTWD1, DUT, EID1, FAM227B, FBN1, FBN1-DT, FGF7, GABPB1, GABPB1-AS1, GABPB1-IT1, GALK2, GLDN, GNB5, HDC, LEO1, LINC01491, LOC108178996, LOC108251795, LOC108281154, LOC110386947, LOC110386948, LOC110386949, LOC110386951, LOC111464992, LOC111822948, LOC112272592, LOC112272593, LOC112272594, LOC113939944, LOC116268465, LOC116268466, LOC120807607, LOC121530580, LOC121530581, LOC121530582, LOC121847947, LOC121847948, LOC121847949, LOC125078075, LOC125078076, LOC125078077, LOC125078078, LOC125078079, LOC125078080, LOC125078081, LOC126862120, LOC126862121, LOC126862122, LOC126862123, LOC126862124, LOC126862125, LOC126862126, LOC126862127, LOC126862128, LOC126862129, LOC126862130, LOC126862131, LOC128092252, LYSMD2, MAPK6, MAPK6-DT, MIR1266, MIR4712, MIR4713, MIR4713HG, MIR4716, MIR7973-1, MIR7973-2, MYEF2, MYO5A, MYO5C, PIRC66, SCG3, SECISBP2L, SEMA6D, SHC4, SLC12A1, SLC24A5, SLC27A2, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, TRPM7, USP50, USP8
See casesPathogenic
(Feb 18, 2011)		no assertion criteria provided
2.
GRCh37:
Chr15:48700513
GRCh38:
Chr15:48408316
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
3.
GRCh37:
Chr15:48700549
GRCh38:
Chr15:48408352
FBN1Stiff skin syndrome, Marfan syndrome, Geleophysic dysplasia,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Ectopia lentis 1, isolated, autosomal dominant		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr15:48700593
GRCh38:
Chr15:48408396
FBN1Geleophysic dysplasia, Stiff skin syndrome, Marfan syndrome,
Ectopia lentis, Acromicric dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
5.
GRCh37:
Chr15:48700595
GRCh38:
Chr15:48408398
FBN1Stiff skin syndrome, Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr15:48700609
GRCh38:
Chr15:48408412
FBN1Geleophysic dysplasia, Marfan syndrome, Ectopia lentis,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
7.
GRCh37:
Chr15:48700631
GRCh38:
Chr15:48408434
FBN1Stiff skin syndrome, Geleophysic dysplasia, Marfan syndrome,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Ectopia lentis 1, isolated, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr15:48700654
GRCh38:
Chr15:48408457
FBN1Stiff skin syndrome, Ectopia lentis, Geleophysic dysplasia,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
MASS syndrome, Marfan syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
9.
GRCh37:
Chr15:48700663
GRCh38:
Chr15:48408466
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Weill-Marchesani syndrome, not provided, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Benign/Likely benign
(May 18, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:48700744
GRCh38:
Chr15:48408547
FBN1Geleophysic dysplasia, Stiff skin syndrome, Ectopia lentis,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
MASS syndrome, Marfan syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
11.
GRCh37:
Chr15:48700766
GRCh38:
Chr15:48408569
FBN1Geleophysic dysplasia, Stiff skin syndrome, Marfan syndrome,
Ectopia lentis, Acromicric dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr15:48700789
GRCh38:
Chr15:48408592
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Marfan syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr15:48700792
GRCh38:
Chr15:48408595
FBN1Geleophysic dysplasia, Stiff skin syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr15:48700827
GRCh38:
Chr15:48408630
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, MASS syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
15.
GRCh37:
Chr15:48700927
GRCh38:
Chr15:48408730
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
MASS syndrome, Marfan syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr15:48700966
GRCh38:
Chr15:48408769
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr15:48701029
GRCh38:
Chr15:48408832
FBN1Geleophysic dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, Marfan syndrome		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:48701034
GRCh38:
Chr15:48408837
FBN1not provided, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Geleophysic dysplasia, Marfan syndrome		Benign/Likely benign
(Jun 10, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:48701073
GRCh38:
Chr15:48408876
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr15:48701096
GRCh38:
Chr15:48408899
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr15:48701109
GRCh38:
Chr15:48408912
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
22.
GRCh37:
Chr15:48701142
GRCh38:
Chr15:48408945
FBN1Geleophysic dysplasia, Acromicric dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:48701143
GRCh38:
Chr15:48408946
FBN1Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr15:48701147
GRCh38:
Chr15:48408950
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, not provided,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:48701150
GRCh38:
Chr15:48408953
FBN1Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome,
Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr15:48701163
GRCh38:
Chr15:48408966
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr15:48701198
GRCh38:
Chr15:48409001
FBN1Geleophysic dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Benign/Likely benign
(Apr 19, 2019)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:48701206
GRCh38:
Chr15:48409009
FBN1Acromicric dysplasia, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr15:48701228
GRCh38:
Chr15:48409031
FBN1Geleophysic dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Benign
(May 15, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr15:48701236-48701237
GRCh38:
Chr15:48409039-48409040
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Ectopia lentis, Marfan syndrome,
Acromicric dysplasia, MASS syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
31.
GRCh37:
Chr15:48701238
GRCh38:
Chr15:48409041
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr15:48701244
GRCh38:
Chr15:48409047
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Ectopia lentis, Marfan syndrome,
Acromicric dysplasia, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
33.
GRCh37:
Chr15:48701454
GRCh38:
Chr15:48409257
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Marfan syndrome,
Acromicric dysplasia, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr15:48701467
GRCh38:
Chr15:48409270
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr15:48701481
GRCh38:
Chr15:48409284
FBN1Geleophysic dysplasia, Stiff skin syndrome, Marfan syndrome,
Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr15:48701515
GRCh38:
Chr15:48409318
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
Marfan syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
37.
GRCh37:
Chr15:48701552
GRCh38:
Chr15:48409355
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Marfan syndrome,
Acromicric dysplasia, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
38.
GRCh37:
Chr15:48701568
GRCh38:
Chr15:48409371
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr15:48701607
GRCh38:
Chr15:48409410
FBN1Geleophysic dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Weill-Marchesani syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr15:48701612
GRCh38:
Chr15:48409415
FBN1Marfan syndrome, Weill-Marchesani syndrome, not provided,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr15:48701625
GRCh38:
Chr15:48409428
FBN1Geleophysic dysplasia, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Weill-Marchesani syndrome, Marfan syndrome,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:48701703
GRCh38:
Chr15:48409506
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr15:48701710
GRCh38:
Chr15:48409513
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Acromicric dysplasia,
MASS syndrome, Marfan syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
44.
GRCh37:
Chr15:48701750
GRCh38:
Chr15:48409553
FBN1Ectopia lentis, Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome		Likely benign
(Jun 14, 2016)		criteria provided, single submitter
45.
GRCh37:
Chr15:48701755
GRCh38:
Chr15:48409558
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, Acromicric dysplasia, Stiff skin syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr15:48701789
GRCh38:
Chr15:48409592
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia,
Ectopia lentis 1, isolated, autosomal dominant		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr15:48701791
GRCh38:
Chr15:48409594
FBN1Ectopia lentis, Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
48.
GRCh37:
Chr15:48701812
GRCh38:
Chr15:48409615
FBN1Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr15:48701819
GRCh38:
Chr15:48409622
FBN1Weill-Marchesani syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, not provided, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr15:48701846
GRCh38:
Chr15:48409649
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Weill-Marchesani syndrome, not provided, Acromicric dysplasia,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Aug 1, 2022)		criteria provided, conflicting interpretations
51.
GRCh37:
Chr15:48701862
GRCh38:
Chr15:48409665
FBN1Geleophysic dysplasia, Stiff skin syndrome, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr15:48701889
GRCh38:
Chr15:48409692
FBN1Geleophysic dysplasia, not provided, Stiff skin syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Weill-Marchesani syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Conflicting interpretations of pathogenicity
(Jun 1, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr15:48701935
GRCh38:
Chr15:48409738
FBN1Geleophysic dysplasia, not provided, Stiff skin syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Weill-Marchesani syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome		Conflicting interpretations of pathogenicity
(May 1, 2022)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr15:48701938
GRCh38:
Chr15:48409741
FBN1Weill-Marchesani syndrome, Marfan syndrome, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr15:48701942
GRCh38:
Chr15:48409745
FBN1Geleophysic dysplasia, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Weill-Marchesani syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr15:48701959
GRCh38:
Chr15:48409762
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr15:48701977-48701978
GRCh38:
Chr15:48409780-48409781
FBN1not providedLikely benign
(Jun 10, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr15:48701986
GRCh38:
Chr15:48409789
FBN1Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome,
Acromicric dysplasia, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr15:48702065
GRCh38:
Chr15:48409868
FBN1Familial thoracic aortic aneurysm and aortic dissection, Weill-Marchesani syndrome, Acromicric dysplasia,
Stiff skin syndrome, Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr15:48702103
GRCh38:
Chr15:48409906
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Benign
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr15:48702180
GRCh38:
Chr15:48409983
FBN1Ectopia lentis, Geleophysic dysplasia, Stiff skin syndrome,
Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
62.
GRCh37:
Chr15:48702200
GRCh38:
Chr15:48410003
FBN1Geleophysic dysplasia, Stiff skin syndrome, Ectopia lentis,
Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
63.
GRCh37:
Chr15:48702219
GRCh38:
Chr15:48410022
FBN1Weill-Marchesani syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr15:48702220
GRCh38:
Chr15:48410023
FBN1Geleophysic dysplasia, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Weill-Marchesani syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr15:48702227
GRCh38:
Chr15:48410030
FBN1Geleophysic dysplasia, not provided, Stiff skin syndrome,
Ectopia lentis, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Marfan syndrome, MASS syndrome
Benign/Likely benign
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:48702239
GRCh38:
Chr15:48410042
FBN1Geleophysic dysplasia, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Weill-Marchesani syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr15:48702249
GRCh38:
Chr15:48410052
FBN1Geleophysic dysplasia, Stiff skin syndrome, Ectopia lentis,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Weill-Marchesani syndrome,
MASS syndrome, Marfan syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
68.
GRCh37:
Chr15:48702320
GRCh38:
Chr15:48410123
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Weill-Marchesani syndrome, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Geleophysic dysplasia, not provided		Benign/Likely benign
(Aug 21, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:48702342
GRCh38:
Chr15:48410145
FBN1Weill-Marchesani syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr15:48702408
GRCh38:
Chr15:48410211
FBN1Geleophysic dysplasia, Weill-Marchesani syndrome, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr15:48702423
GRCh38:
Chr15:48410226
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Stiff skin syndrome, Marfan syndrome, Weill-Marchesani syndrome,
Ectopia lentis 1, isolated, autosomal dominant		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr15:48702457
GRCh38:
Chr15:48410260
FBN1not provided, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Weill-Marchesani syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Stiff skin syndrome, Geleophysic dysplasia		Benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr15:48702463
GRCh38:
Chr15:48410266
FBN1Geleophysic dysplasia, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Stiff skin syndrome, Weill-Marchesani syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr15:48702781
GRCh38:
Chr15:48410584
FBN1Ectopia lentis, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Stiff skin syndrome, Weill-Marchesani syndrome, Marfan syndrome,
Geleophysic dysplasia, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr15:48702788
GRCh38:
Chr15:48410591
FBN1Stiff skin syndrome, Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
76.
GRCh37:
Chr15:48702862
GRCh38:
Chr15:48410665
FBN1Stiff skin syndrome, Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Acromicric dysplasia, Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr15:48702873
GRCh38:
Chr15:48410676
FBN1not provided, Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome,
Geleophysic dysplasia, Weill-Marchesani syndrome		Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr15:48702876
GRCh38:
Chr15:48410679
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr15:48702887
GRCh38:
Chr15:48410690
FBN1Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant,
Marfan syndrome, Weill-Marchesani syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr15:48702901
GRCh38:
Chr15:48410704
FBN1Stiff skin syndrome, Marfan syndrome, Ectopia lentis,
Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Geleophysic dysplasia,
Weill-Marchesani syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr15:48702919
GRCh38:
Chr15:48410722
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia,
Weill-Marchesani syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr15:48702933
GRCh38:
Chr15:48410736
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, Geleophysic dysplasia 2, Marfan syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Stiff skin syndrome, Acromicric dysplasia,
Progeroid and marfanoid aspect-lipodystrophy syndrome, MASS syndromeWeill-Marchesani syndrome 2, dominant,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia, Weill-Marchesani syndrome,
...see more		Uncertain significance
(Nov 3, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr15:48702934
GRCh38:
Chr15:48410737
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome
Uncertain significance
(Apr 20, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr15:48702935
GRCh38:
Chr15:48410738
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Marfan syndrome,
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant
Uncertain significance
(Apr 20, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr15:48702952
GRCh38:
Chr15:48410755
FBN1Weill-Marchesani syndrome, Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Marfan syndrome, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr15:48702964
GRCh38:
Chr15:48410767
FBN1not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr15:48702984-48702985
GRCh38:
Chr15:48410787-48410788
FBN1Stiff skin syndrome, Ectopia lentis, Familial thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, Marfan syndrome, Geleophysic dysplasia,
Weill-Marchesani syndrome, MASS syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
88.
GRCh37:
Chr15:48703080
GRCh38:
Chr15:48410883
FBN1Stiff skin syndrome, Ectopia lentis 1, isolated, autosomal dominant, Weill-Marchesani syndrome,
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr15:48703130
GRCh38:
Chr15:48410933
FBN1Familial thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Stiff skin syndrome,
Marfan syndrome, Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia,
Weill-Marchesani syndrome		Benign
(Jan 12, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr15:48703144
GRCh38:
Chr15:48410947
FBN1Stiff skin syndrome, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis 1, isolated, autosomal dominant, Geleophysic dysplasia, Weill-Marchesani syndrome,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr15:48703167-48726930
GRCh38:
Chr15:48410970-48434733
FBN1Familial thoracic aortic aneurysm and aortic dissection, Marfan syndromeUncertain significance
(Jun 11, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr15:48703167-48704960
GRCh38:
Chr15:48410970-48412763
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 12, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr15:48703167-48936986
GRCh38:
Chr15:48410970-48644789
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 25, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr15:48703167-48830025
GRCh38:
Chr15:48410970-48537828
LOC126862125, FBN1, LOC113939944, LOC125078076, LOC126862124Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Oct 4, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr15:48703167-48789608
GRCh38:
Chr15:48410970-48497411
FBN1, LOC126862124Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionPathogenic
(Aug 12, 2021)		criteria provided, single submitter
96.
GRCh37:
Chr15:48703187-48748959
GRCh38:
Chr15:48410990-48456762
FBN1Marfan syndromePathogenic
(Aug 27, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr15:48703187
GRCh38:
Chr15:48410990
FBN1Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Familial thoracic aortic aneurysm and aortic dissection		Conflicting interpretations of pathogenicity
(Sep 17, 2022)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr15:48703195
GRCh38:
Chr15:48410998
FBN1L2870FFamilial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Nov 26, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr15:48703196
GRCh38:
Chr15:48410999
FBN1L2869fsFamilial thoracic aortic aneurysm and aortic dissectionLikely pathogenic
(Jul 20, 2017)		criteria provided, single submitter
100.
GRCh37:
Chr15:48703197
GRCh38:
Chr15:48411000
FBN1L2869SMarfan syndrome, Familial thoracic aortic aneurysm and aortic dissectionUncertain significance
(Jul 17, 2022)		criteria provided, single submitter
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