| - GRCh37:
- Chr15:46334500-54488025
- GRCh38:
- Chr15:46042302-54195828
| LOC116268466, LOC112272594, LOC112272596, MAPK6-DT, LOC113939944, LOC116268465, LYSMD2, WDR72, FAM214A, DTWD1, ATP8B4, SECISBP2L, BCL2L10, MYEF2, TRPM7, GABPB1-IT1, MYO5C, SLC24A5, TNFAIP8L3, SHC4, GLDN, USP50, MYO5A, MAPK6, SLC12A1, MIR4713, MIR4712, LEO1, CERNA1, LOC112272593, GNB5, FAM227B, MIR1266, PIRC66, MIR4716, LOC111464992, LOC111822948, LOC112272592, CYP19A1, DUT, FBN1, FGF7, GABPB1, GALK2, HDC, ONECUT1, DMXL2, AP4E1, EID1, SCG3, TMOD3, TMOD2, LINC01491, MIR7973-2, MIR7973-1, CTXN2-AS1, ARPP19, SLC27A2, CEP152, USP8, COPS2, SEMA6D, SPPL2A, FBN1-DT, LINC02490, LOC108178996, CTXN2, UNC13C, GABPB1-AS1, LOC108251795, LOC108281154, MIR4713HG, LOC110386947, LOC110386948, LOC110386949, LOC110386951 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter | VCV000057879 |
| - GRCh37:
- Chr15:47753041-52786419
- GRCh38:
- Chr15:47460844-52494222
| CYP19A1, DUT, FBN1, FGF7, GABPB1, GALK2, HDC, MYO5A, MAPK6, SLC12A1, USP8, COPS2, SECISBP2L, BCL2L10, GNB5, SLC27A2, CEP152, DMXL2, AP4E1, EID1, SCG3, TMOD3, TMOD2, MYEF2, TRPM7, GABPB1-IT1, MYO5C, DTWD1, ATP8B4, SEMA6D, SPPL2A, LEO1, FAM227B, LYSMD2, SLC24A5, GLDN, USP50, TNFAIP8L3, SHC4, CTXN2, GABPB1-AS1, CERNA1, MIR1266, PIRC66, MIR4716, MIR4713, MIR4712, LINC01491, MIR7973-2, MIR7973-1, CTXN2-AS1, FBN1-DT, LOC108178996, LOC108251795, LOC108281154, MIR4713HG, LOC110386947, LOC110386948, LOC110386949, LOC110386951, LOC111464992, LOC111822948, LOC112272592, LOC112272593, LOC112272594, MAPK6-DT, LOC113939944, LOC116268465, LOC116268466 | | See cases | Pathogenic (Feb 18, 2011) | no assertion criteria provided | VCV000146334 |
| - GRCh37:
- Chr15:48700513
- GRCh38:
- Chr15:48408316
| FBN1 | | Weill-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 submitter | VCV000316296 |
| - GRCh37:
- Chr15:48700549
- GRCh38:
- Chr15:48408352
| FBN1 | | Marfan 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 submitter | VCV000316297 |
| - GRCh37:
- Chr15:48700593
- GRCh38:
- Chr15:48408396
| FBN1 | | Familial 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 submitter | VCV000316298 |
| - GRCh37:
- Chr15:48700595
- GRCh38:
- Chr15:48408398
| FBN1 | | Marfan 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 submitter | VCV000887646 |
| - GRCh37:
- Chr15:48700609
- GRCh38:
- Chr15:48408412
| FBN1 | | Familial 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 submitter | VCV000316299 |
| - GRCh37:
- Chr15:48700631
- GRCh38:
- Chr15:48408434
| FBN1 | | Marfan 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 submitter | VCV000316300 |
| - GRCh37:
- Chr15:48700654
- GRCh38:
- Chr15:48408457
| FBN1 | | Familial 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 submitter | VCV000316301 |
| - GRCh37:
- Chr15:48700663
- GRCh38:
- Chr15:48408466
| FBN1 | | Familial 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 submitter | VCV000316302 |
| - GRCh37:
- Chr15:48700744
- GRCh38:
- Chr15:48408547
| FBN1 | | Familial 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 submitter | VCV000316303 |
| - GRCh37:
- Chr15:48700766
- GRCh38:
- Chr15:48408569
| FBN1 | | Familial 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 submitter | VCV000316304 |
| - GRCh37:
- Chr15:48700789
- GRCh38:
- Chr15:48408592
| FBN1 | | Weill-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 interpretations | VCV000316305 |
| - GRCh37:
- Chr15:48700792
- GRCh38:
- Chr15:48408595
| FBN1 | | Weill-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 interpretations | VCV000316306 |
| - GRCh37:
- Chr15:48700827
- GRCh38:
- Chr15:48408630
| FBN1 | | Ectopia 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 submitter | VCV000316307 |
| - GRCh37:
- Chr15:48700927
- GRCh38:
- Chr15:48408730
| FBN1 | | Ectopia 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 submitter | VCV000316308 |
| - GRCh37:
- Chr15:48700966
- GRCh38:
- Chr15:48408769
| FBN1 | | Weill-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 submitter | VCV000316309 |
| - GRCh37:
- Chr15:48701029
- GRCh38:
- Chr15:48408832
| FBN1 | | Weill-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 submitter | VCV000316310 |
| - GRCh37:
- Chr15:48701034
- GRCh38:
- Chr15:48408837
| FBN1 | | Weill-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 submitter | VCV000316311 |
| - GRCh37:
- Chr15:48701073
- GRCh38:
- Chr15:48408876
| FBN1 | | Weill-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 submitter | VCV000316312 |
| - GRCh37:
- Chr15:48701096
- GRCh38:
- Chr15:48408899
| FBN1 | | Weill-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 submitter | VCV000316313 |
| - GRCh37:
- Chr15:48701109
- GRCh38:
- Chr15:48408912
| FBN1 | | Ectopia 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 submitter | VCV000316314 |
| - GRCh37:
- Chr15:48701142
- GRCh38:
- Chr15:48408945
| FBN1 | | Weill-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 interpretations | VCV000884619 |
| - GRCh37:
- Chr15:48701143
- GRCh38:
- Chr15:48408946
| FBN1 | | Weill-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 submitter | VCV000884620 |
| - GRCh37:
- Chr15:48701147
- GRCh38:
- Chr15:48408950
| FBN1 | | Weill-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 submitter | VCV000316315 |
| - GRCh37:
- Chr15:48701150
- GRCh38:
- Chr15:48408953
| FBN1 | | Weill-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 submitter | VCV000886579 |
| - GRCh37:
- Chr15:48701163
- GRCh38:
- Chr15:48408966
| FBN1 | | Familial 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 interpretations | VCV000316316 |
| - GRCh37:
- Chr15:48701198
- GRCh38:
- Chr15:48409001
| FBN1 | | Familial 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 submitter | VCV000316317 |
| - GRCh37:
- Chr15:48701206
- GRCh38:
- Chr15:48409009
| FBN1 | | Ectopia 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 submitter | VCV000884680 |
| - GRCh37:
- Chr15:48701228
- GRCh38:
- Chr15:48409031
| FBN1 | | Weill-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 submitter | VCV000316318 |
| - GRCh37:
- Chr15:48701236-48701237
- GRCh38:
- Chr15:48409039-48409040
| FBN1 | | Ectopia 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 submitter | VCV000316319 |
| - GRCh37:
- Chr15:48701238
- GRCh38:
- Chr15:48409041
| FBN1 | | Weill-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 interpretations | VCV000316320 |
| - GRCh37:
- Chr15:48701244
- GRCh38:
- Chr15:48409047
| FBN1 | | Familial 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 submitter | VCV000316321 |
| - GRCh37:
- Chr15:48701454
- GRCh38:
- Chr15:48409257
| FBN1 | | Marfan 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 submitter | VCV000316322 |
| - GRCh37:
- Chr15:48701467
- GRCh38:
- Chr15:48409270
| FBN1 | | Familial 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 interpretations | VCV000316323 |
| - GRCh37:
- Chr15:48701481
- GRCh38:
- Chr15:48409284
| FBN1 | | Familial 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 submitter | VCV000316324 |
| - GRCh37:
- Chr15:48701515
- GRCh38:
- Chr15:48409318
| FBN1 | | Marfan 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 submitter | VCV000316325 |
| - GRCh37:
- Chr15:48701552
- GRCh38:
- Chr15:48409355
| FBN1 | | Marfan 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 submitter | VCV000316326 |
| - GRCh37:
- Chr15:48701568
- GRCh38:
- Chr15:48409371
| FBN1 | | Acromicric 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 interpretations | VCV000316327 |
| - GRCh37:
- Chr15:48701607
- GRCh38:
- Chr15:48409410
| FBN1 | | Acromicric 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 interpretations | VCV000316328 |
| - GRCh37:
- Chr15:48701612
- GRCh38:
- Chr15:48409415
| FBN1 | | Acromicric 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 submitter | VCV000316329 |
| - GRCh37:
- Chr15:48701625
- GRCh38:
- Chr15:48409428
| FBN1 | | Stiff 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 submitter | VCV000316330 |
| - GRCh37:
- Chr15:48701703
- GRCh38:
- Chr15:48409506
| FBN1 | | Stiff 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 interpretations | VCV000316331 |
| - GRCh37:
- Chr15:48701710
- GRCh38:
- Chr15:48409513
| FBN1 | | Marfan 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 submitter | VCV000316332 |
| - GRCh37:
- Chr15:48701750
- GRCh38:
- Chr15:48409553
| FBN1 | | Ectopia 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 submitter | VCV000316333 |
| - GRCh37:
- Chr15:48701755
- GRCh38:
- Chr15:48409558
| FBN1 | | Marfan 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 submitter | VCV000885745 |
| - GRCh37:
- Chr15:48701789
- GRCh38:
- Chr15:48409592
| FBN1 | | Stiff 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 submitter | VCV000316334 |
| - GRCh37:
- Chr15:48701791
- GRCh38:
- Chr15:48409594
| FBN1 | | Ectopia 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 submitter | VCV000316335 |
| - GRCh37:
- Chr15:48701812
- GRCh38:
- Chr15:48409615
| FBN1 | | Weill-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 submitter | VCV000888017 |
| - GRCh37:
- Chr15:48701819
- GRCh38:
- Chr15:48409622
| FBN1 | | Acromicric 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 submitter | VCV000316336 |
| - GRCh37:
- Chr15:48701846
- GRCh38:
- Chr15:48409649
| FBN1 | | Ectopia 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 submitter | VCV000884892 |
| - GRCh37:
- Chr15:48701862
- GRCh38:
- Chr15:48409665
| FBN1 | | Acromicric 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 interpretations | VCV000316337 |
| - GRCh37:
- Chr15:48701889
- GRCh38:
- Chr15:48409692
| FBN1 | | Acromicric 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 interpretations | VCV000316338 |
| - GRCh37:
- Chr15:48701935
- GRCh38:
- Chr15:48409738
| FBN1 | | Acromicric 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 interpretations | VCV000316339 |
| - GRCh37:
- Chr15:48701938
- GRCh38:
- Chr15:48409741
| FBN1 | | Ectopia 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 submitter | VCV000884967 |
| - GRCh37:
- Chr15:48701942
- GRCh38:
- Chr15:48409745
| FBN1 | | Acromicric 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 interpretations | VCV000316340 |
| - GRCh37:
- Chr15:48701959
- GRCh38:
- Chr15:48409762
| FBN1 | | Acromicric 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 submitter | VCV000316341 |
| - GRCh37:
- Chr15:48701986
- GRCh38:
- Chr15:48409789
| FBN1 | | Marfan 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 submitter | VCV000886871 |
| - GRCh37:
- Chr15:48702065
- GRCh38:
- Chr15:48409868
| FBN1 | | Familial 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 submitter | VCV000888152 |
| - GRCh37:
- Chr15:48702103
- GRCh38:
- Chr15:48409906
| FBN1 | | Familial 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 submitter | VCV000316342 |
| - GRCh37:
- Chr15:48702180
- GRCh38:
- Chr15:48409983
| FBN1 | | Ectopia 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 submitter | VCV000316343 |
| - GRCh37:
- Chr15:48702200
- GRCh38:
- Chr15:48410003
| FBN1 | | Ectopia 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 submitter | VCV000316344 |
| - GRCh37:
- Chr15:48702219
- GRCh38:
- Chr15:48410022
| FBN1 | | Familial 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 submitter | VCV000885033 |
| - GRCh37:
- Chr15:48702220
- GRCh38:
- Chr15:48410023
| FBN1 | | Acromicric 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 interpretations | VCV000316345 |
| - GRCh37:
- Chr15:48702227
- GRCh38:
- Chr15:48410030
| FBN1 | | Marfan 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 submitter | VCV000316346 |
| - GRCh37:
- Chr15:48702239
- GRCh38:
- Chr15:48410042
| FBN1 | | Weill-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 submitter | VCV000316347 |
| - GRCh37:
- Chr15:48702249
- GRCh38:
- Chr15:48410052
| FBN1 | | Marfan 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 submitter | VCV000316348 |
| - GRCh37:
- Chr15:48702320
- GRCh38:
- Chr15:48410123
| FBN1 | | Weill-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 submitter | VCV000316349 |
| - GRCh37:
- Chr15:48702342
- GRCh38:
- Chr15:48410145
| FBN1 | | Familial 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 submitter | VCV000885095 |
| - GRCh37:
- Chr15:48702408
- GRCh38:
- Chr15:48410211
| FBN1 | | Geleophysic 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 interpretations | VCV000885096 |
| - GRCh37:
- Chr15:48702423
- GRCh38:
- Chr15:48410226
| FBN1 | | Weill-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 interpretations | VCV000316350 |
| - GRCh37:
- Chr15:48702457
- GRCh38:
- Chr15:48410260
| FBN1 | | Weill-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 submitter | VCV000316351 |
| - GRCh37:
- Chr15:48702463
- GRCh38:
- Chr15:48410266
| FBN1 | | Weill-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 submitter | VCV000316352 |
| - GRCh37:
- Chr15:48702781
- GRCh38:
- Chr15:48410584
| FBN1 | | Marfan 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 submitter | VCV000316353 |
| - GRCh37:
- Chr15:48702788
- GRCh38:
- Chr15:48410591
| FBN1 | | Ectopia 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 submitter | VCV000886074 |
| - GRCh37:
- Chr15:48702862
- GRCh38:
- Chr15:48410665
| FBN1 | | Ectopia 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 submitter | VCV000886075 |
| - GRCh37:
- Chr15:48702873
- GRCh38:
- Chr15:48410676
| FBN1 | | Weill-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 submitter | VCV000316354 |
| - GRCh37:
- Chr15:48702876
- GRCh38:
- Chr15:48410679
| FBN1 | | Familial 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 submitter | VCV000885245 |
| - GRCh37:
- Chr15:48702887
- GRCh38:
- Chr15:48410690
| FBN1 | | Familial 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 submitter | VCV000885246 |
| - GRCh37:
- Chr15:48702901
- GRCh38:
- Chr15:48410704
| FBN1 | | Marfan 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 submitter | VCV000316355 |
| - GRCh37:
- Chr15:48702919
- GRCh38:
- Chr15:48410722
| FBN1 | | Stiff 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 submitter | VCV000316356 |
| - GRCh37:
- Chr15:48702933
- GRCh38:
- Chr15:48410736
| FBN1 | | Stiff 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 submitter | VCV000316357 |
| - GRCh37:
- Chr15:48702934
- GRCh38:
- Chr15:48410737
| FBN1 | | Weill-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 submitter | VCV000888414 |
| - GRCh37:
- Chr15:48702935
- GRCh38:
- Chr15:48410738
| FBN1 | | Familial 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 submitter | VCV000885308 |
| - GRCh37:
- Chr15:48702952
- GRCh38:
- Chr15:48410755
| FBN1 | | Marfan 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 submitter | VCV000885309 |
| - GRCh37:
- Chr15:48702984-48702985
- GRCh38:
- Chr15:48410787-48410788
| FBN1 | | Ectopia 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 submitter | VCV000316358 |
| - GRCh37:
- Chr15:48703080
- GRCh38:
- Chr15:48410883
| FBN1 | | Ectopia 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 submitter | VCV000886213 |
| - GRCh37:
- Chr15:48703130
- GRCh38:
- Chr15:48410933
| FBN1 | | Weill-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 submitter | VCV000316359 |
| - GRCh37:
- Chr15:48703144
- GRCh38:
- Chr15:48410947
| FBN1 | | Weill-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 interpretations | VCV000888468 |
| - GRCh37:
- Chr15:48703167-48726930
- GRCh38:
- Chr15:48410970-48434733
| FBN1 | | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Jun 11, 2018) | criteria provided, single submitter | VCV000584144 |
| - GRCh37:
- Chr15:48703167-48704960
- GRCh38:
- Chr15:48410970-48412763
| FBN1 | | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Mar 1, 2018) | criteria provided, single submitter | VCV000584073 |
| - GRCh38:
- Chr15:48410970-48644789
| FBN1, LOC113939944 | | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Aug 25, 2018) | criteria provided, single submitter | VCV000457152 |
| - GRCh38:
- Chr15:48410970-48537828
| FBN1, LOC113939944 | | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Oct 4, 2018) | criteria provided, single submitter | VCV000457151 |
| - GRCh37:
- Chr15:48703167-48789608
- GRCh38:
- Chr15:48410970-48497411
| FBN1 | | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic (Jul 14, 2017) | criteria provided, single submitter | VCV000457150 |
| - GRCh37:
- Chr15:48703187-48748959
- GRCh38:
- Chr15:48410990-48456762
| FBN1 | | Marfan syndrome | Pathogenic (Aug 27, 2018) | criteria provided, single submitter | VCV000560348 |
| - GRCh37:
- Chr15:48703187
- GRCh38:
- Chr15:48410990
| FBN1 | | not 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 interpretations | VCV000457272 |
| - GRCh37:
- Chr15:48703195
- GRCh38:
- Chr15:48410998
| FBN1 | L2870F | Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance (Nov 26, 2018) | criteria provided, single submitter | VCV000927302 |
| - GRCh37:
- Chr15:48703197-48703198
- GRCh38:
- Chr15:48411000-48411001
| FBN1 | L2869fs | Marfan syndrome | Likely pathogenic (Mar 1, 2008) | criteria provided, single submitter | VCV000042447 |
| - GRCh37:
- Chr15:48703200
- GRCh38:
- Chr15:48411003
| FBN1 | V2868D | Cardiovascular phenotype | Uncertain significance (Apr 18, 2016) | criteria provided, single submitter | VCV000519710 |
| - GRCh37:
- Chr15:48703203
- GRCh38:
- Chr15:48411006
| FBN1 | Q2867P | Marfan syndrome | Likely pathogenic (Apr 14, 2009) | criteria provided, single submitter | VCV000042446 |