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Items: 1 to 100 of 3048

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
FBN1Thoracic aortic aneurysm and aortic dissectionBenign
(Aug 7, 2015)
criteria provided, single submitterVCV000263845
2.
FBN1Marfan syndromePathogenic
(Jan 2, 2016)
criteria provided, single submitterVCV000237097
3.
FBN1Marfan syndromePathogenic
(May 15, 2008)
no assertion criteria providedVCV000016468
4.
FBN1Marfan syndromePathogenic
(Jul 1, 1992)
no assertion criteria providedVCV000016423
5.
GRCh37:
Chr15:31115047-102354857
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TLE3, TP53BP1, TPM1, TYRO3, SLC30A4, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, LINC02694, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA8O, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, ARPIN-AP3S2, ST20-MTHFS, MYZAP
not providedPathogenic
(Apr 5, 2018)
criteria provided, single submitterVCV000560049
6.
GRCh37:
Chr15:48700513
GRCh38:
Chr15:48408316
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316296
7.
GRCh37:
Chr15:48700549
GRCh38:
Chr15:48408352
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316297
8.
GRCh37:
Chr15:48700593
GRCh38:
Chr15:48408396
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316298
9.
GRCh37:
Chr15:48700609
GRCh38:
Chr15:48408412
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316299
10.
GRCh37:
Chr15:48700631
GRCh38:
Chr15:48408434
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316300
11.
GRCh37:
Chr15:48700654
GRCh38:
Chr15:48408457
FBN1Ectopia lentis, Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Weill-Marchesani syndrome, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316301
12.
GRCh37:
Chr15:48700663
GRCh38:
Chr15:48408466
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316302
13.
GRCh37:
Chr15:48700744
GRCh38:
Chr15:48408547
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316303
14.
GRCh37:
Chr15:48700766
GRCh38:
Chr15:48408569
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316304
15.
GRCh37:
Chr15:48700789
GRCh38:
Chr15:48408592
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
MASS syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316305
16.
GRCh37:
Chr15:48700792
GRCh38:
Chr15:48408595
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Acromicric dysplasia,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316306
17.
GRCh37:
Chr15:48700827
GRCh38:
Chr15:48408630
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Acromicric dysplasia,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316307
18.
GRCh37:
Chr15:48700927
GRCh38:
Chr15:48408730
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316308
19.
GRCh37:
Chr15:48700966
GRCh38:
Chr15:48408769
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, MASS syndrome, Marfan syndrome,
Acromicric dysplasia, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316309
20.
GRCh37:
Chr15:48701029
GRCh38:
Chr15:48408832
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, MASS syndrome,
Marfan syndrome, Stiff skin syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316310
21.
GRCh37:
Chr15:48701034
GRCh38:
Chr15:48408837
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, MASS syndrome,
Marfan syndrome, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316311
22.
GRCh37:
Chr15:48701073
GRCh38:
Chr15:48408876
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316312
23.
GRCh37:
Chr15:48701096
GRCh38:
Chr15:48408899
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316313
24.
GRCh37:
Chr15:48701109
GRCh38:
Chr15:48408912
FBN1Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Acromicric dysplasia, MASS syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316314
25.
GRCh37:
Chr15:48701147
GRCh38:
Chr15:48408950
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
MASS syndrome, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316315
26.
GRCh37:
Chr15:48701163
GRCh38:
Chr15:48408966
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
MASS syndrome, Marfan syndrome, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316316
27.
GRCh37:
Chr15:48701198
GRCh38:
Chr15:48409001
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
MASS syndrome, Marfan syndrome, Weill-Marchesani syndrome,
Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316317
28.
GRCh37:
Chr15:48701228
GRCh38:
Chr15:48409031
FBN1Ectopia lentis, Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Weill-Marchesani syndrome, Stiff skin syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316318
29.
GRCh37:
Chr15:48701237
GRCh38:
Chr15:48409040
FBN1Ectopia lentis, Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Weill-Marchesani syndrome, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316319
30.
GRCh37:
Chr15:48701238
GRCh38:
Chr15:48409041
FBN1Ectopia lentis, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Acromicric dysplasia, MASS syndrome, Marfan syndrome,
Geleophysic dysplasia, Stiff skin syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316320
31.
GRCh37:
Chr15:48701244
GRCh38:
Chr15:48409047
FBN1Ectopia lentis, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
MASS syndrome, Marfan syndrome, Geleophysic dysplasia,
Weill-Marchesani syndrome, Stiff skin syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316321
32.
GRCh37:
Chr15:48701454
GRCh38:
Chr15:48409257
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316322
33.
GRCh37:
Chr15:48701467
GRCh38:
Chr15:48409270
FBN1Geleophysic dysplasia, Acromicric dysplasia, MASS syndrome,
Ectopia lentis, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316323
34.
GRCh37:
Chr15:48701481
GRCh38:
Chr15:48409284
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
MASS syndrome, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316324
35.
GRCh37:
Chr15:48701515
GRCh38:
Chr15:48409318
FBN1Ectopia lentis, Geleophysic dysplasia, Acromicric dysplasia,
MASS syndrome, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316325
36.
GRCh37:
Chr15:48701552
GRCh38:
Chr15:48409355
FBN1Ectopia lentis, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316326
37.
GRCh37:
Chr15:48701568
GRCh38:
Chr15:48409371
FBN1Ectopia lentis, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
MASS syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316327
38.
GRCh37:
Chr15:48701607
GRCh38:
Chr15:48409410
FBN1Ectopia lentis, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316328
39.
GRCh37:
Chr15:48701612
GRCh38:
Chr15:48409415
FBN1Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316329
40.
GRCh37:
Chr15:48701625
GRCh38:
Chr15:48409428
FBN1Acromicric dysplasia, Marfan syndrome, Ectopia lentis,
Geleophysic dysplasia, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316330
41.
GRCh37:
Chr15:48701703
GRCh38:
Chr15:48409506
FBN1Acromicric dysplasia, Marfan syndrome, Ectopia lentis,
Geleophysic dysplasia, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316331
42.
GRCh37:
Chr15:48701710
GRCh38:
Chr15:48409513
FBN1Acromicric dysplasia, Ectopia lentis, Geleophysic dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316332
43.
GRCh37:
Chr15:48701750
GRCh38:
Chr15:48409553
FBN1Acromicric dysplasia, Ectopia lentis, Geleophysic dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316333
44.
GRCh37:
Chr15:48701789
GRCh38:
Chr15:48409592
FBN1Acromicric dysplasia, Ectopia lentis, Geleophysic dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316334
45.
GRCh37:
Chr15:48701791
GRCh38:
Chr15:48409594
FBN1Acromicric dysplasia, Ectopia lentis, Geleophysic dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316335
46.
GRCh37:
Chr15:48701819
GRCh38:
Chr15:48409622
FBN1Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316336
47.
GRCh37:
Chr15:48701862
GRCh38:
Chr15:48409665
FBN1Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316337
48.
GRCh37:
Chr15:48701889
GRCh38:
Chr15:48409692
FBN1Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316338
49.
GRCh37:
Chr15:48701935
GRCh38:
Chr15:48409738
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316339
50.
GRCh37:
Chr15:48701942
GRCh38:
Chr15:48409745
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, Geleophysic dysplasia, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316340
51.
GRCh37:
Chr15:48701959
GRCh38:
Chr15:48409762
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, Geleophysic dysplasia, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316341
52.
GRCh37:
Chr15:48702103
GRCh38:
Chr15:48409906
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis,
Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316342
53.
GRCh37:
Chr15:48702180
GRCh38:
Chr15:48409983
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis,
Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316343
54.
GRCh37:
Chr15:48702200
GRCh38:
Chr15:48410003
FBN1Acromicric dysplasia, Ectopia lentis, Geleophysic dysplasia,
Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316344
55.
GRCh37:
Chr15:48702220
GRCh38:
Chr15:48410023
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis,
Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316345
56.
GRCh37:
Chr15:48702227
GRCh38:
Chr15:48410030
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316346
57.
GRCh37:
Chr15:48702239
GRCh38:
Chr15:48410042
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316347
58.
GRCh37:
Chr15:48702249
GRCh38:
Chr15:48410052
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316348
59.
GRCh37:
Chr15:48702320
GRCh38:
Chr15:48410123
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316349
60.
GRCh37:
Chr15:48702423
GRCh38:
Chr15:48410226
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316350
61.
GRCh37:
Chr15:48702457
GRCh38:
Chr15:48410260
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316351
62.
GRCh37:
Chr15:48702463
GRCh38:
Chr15:48410266
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis,
Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316352
63.
GRCh37:
Chr15:48702781
GRCh38:
Chr15:48410584
FBN1Weill-Marchesani syndrome, Acromicric dysplasia, Ectopia lentis,
Geleophysic dysplasia, Thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316353
64.
GRCh37:
Chr15:48702873
GRCh38:
Chr15:48410676
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, Geleophysic dysplasia, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316354
65.
GRCh37:
Chr15:48702901
GRCh38:
Chr15:48410704
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Ectopia lentis, Geleophysic dysplasia, Stiff skin syndrome,
MASS syndrome, Marfan syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316355
66.
GRCh37:
Chr15:48702919
GRCh38:
Chr15:48410722
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316356
67.
GRCh37:
Chr15:48702933
GRCh38:
Chr15:48410736
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316357
68.
GRCh37:
Chr15:48702984-48702985
GRCh38:
Chr15:48410787-48410788
FBN1Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia,
Marfan syndrome, Ectopia lentis, Geleophysic dysplasia,
Stiff skin syndrome, MASS syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000316358
69.
GRCh37:
Chr15:48703130
GRCh38:
Chr15:48410933
FBN1Thoracic aortic aneurysm and aortic dissection, Acromicric dysplasia, Marfan syndrome,
Ectopia lentis, Geleophysic dysplasia, Weill-Marchesani syndrome,
Stiff skin syndrome, MASS syndrome
Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000316359
70.
GRCh37:
Chr15:48703187-48748959
GRCh38:
Chr15:48410990-48456762
FBN1Marfan syndromePathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000560348
71.
GRCh37:
Chr15:48703187
GRCh38:
Chr15:48410990
FBN1Marfan syndrome, Thoracic aortic aneurysm and aortic dissection, not specified
Conflicting interpretations of pathogenicity
(Feb 13, 2017)
criteria provided, conflicting interpretationsVCV000457272
72.
GRCh37:
Chr15:48703197-48703198
GRCh38:
Chr15:48411000-48411001
FBN1Marfan syndromeLikely pathogenic
(Mar 1, 2008)
criteria provided, single submitterVCV000042447
73.
GRCh37:
Chr15:48703200
GRCh38:
Chr15:48411003
FBN1V2868DCardiovascular phenotypeUncertain significance
(Apr 18, 2016)
criteria provided, single submitterVCV000519710
74.
GRCh37:
Chr15:48703203
GRCh38:
Chr15:48411006
FBN1Q2867PMarfan syndromeLikely pathogenic
(Apr 14, 2009)
criteria provided, single submitterVCV000042446
75.
GRCh38:
Chr15:48411009
FBN1Marfan syndrome, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 20, 2018)
criteria provided, single submitterVCV000650768
76.
GRCh38:
Chr15:48411015
FBN1Marfan syndrome, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Dec 20, 2018)
criteria provided, single submitterVCV000662665
77.
GRCh37:
Chr15:48703212
GRCh38:
Chr15:48411015
FBN1M2864KMarfan syndrome, Thoracic aortic aneurysm and aortic dissection, Thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Aug 7, 2017)
criteria provided, multiple submitters, no conflictsVCV000406279
78.
GRCh37:
Chr15:48703221
GRCh38:
Chr15:48411024
FBN1N2861Inot providedUncertain significance
(Feb 7, 2017)
criteria provided, single submitterVCV000495660
79.
GRCh37:
Chr15:48703224
GRCh38:
Chr15:48411027
FBN1D2860GMarfan syndrome, Thoracic aortic aneurysm and aortic dissection, not provided
Uncertain significance
(Oct 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000200137
80.
GRCh37:
Chr15:48703242
GRCh38:
Chr15:48411045
FBN1Marfan syndrome, Thoracic aortic aneurysm and aortic dissectionLikely pathogenic
(May 16, 2018)
criteria provided, single submitterVCV000406284
81.
GRCh37:
Chr15:48703252
GRCh38:
Chr15:48411055
FBN1K2851Enot providedUncertain significance
(Jul 1, 2014)
criteria provided, single submitterVCV000200136
82.
GRCh37:
Chr15:48703259
GRCh38:
Chr15:48411062
FBN1Marfan syndromeLikely pathogenic
(Nov 7, 2017)
no assertion criteria providedVCV000549469
83.
GRCh37:
Chr15:48703259-48703260
GRCh38:
Chr15:48411062-48411063
FBN1not providedPathogenic
(Nov 2, 2017)
criteria provided, single submitterVCV000503785
84.
GRCh37:
Chr15:48703259
GRCh38:
Chr15:48411062
FBN1not providedPathogenic
(Dec 7, 2012)
criteria provided, single submitterVCV000200175
85.
GRCh37:
Chr15:48703260
GRCh38:
Chr15:48411063
FBN1K2848Tnot specifiedUncertain significance
(Jan 15, 2015)
criteria provided, single submitterVCV000228689
86.
GRCh37:
Chr15:48703261
GRCh38:
Chr15:48411064
FBN1K2848QCardiovascular phenotype, not specifiedLikely benign
(Nov 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000513328
87.
GRCh37:
Chr15:48703267
GRCh38:
Chr15:48411070
FBN1E2846KMarfan syndrome, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(Aug 6, 2018)
criteria provided, single submitterVCV000571346
88.
GRCh37:
Chr15:48703267
GRCh38:
Chr15:48411070
FBN1E2846*Marfan syndromePathogenic
(Nov 7, 2017)
no assertion criteria providedVCV000549468
89.
GRCh37:
Chr15:48703273
GRCh38:
Chr15:48411076
FBN1Q2844*Marfan syndromeLikely pathogenic
(Jul 20, 2017)
criteria provided, single submitterVCV000520501
90.
GRCh37:
Chr15:48703274-48703278
GRCh38:
Chr15:48411077-48411081
FBN1Marfan syndrome, not providedPathogenic
(Nov 1, 2016)
criteria provided, multiple submitters, no conflictsVCV000419823
91.
GRCh37:
Chr15:48703280-48703283
GRCh38:
Chr15:48411083-48411086
FBN1not providedPathogenic
(Jul 28, 2017)
criteria provided, single submitterVCV000445483
92.
GRCh37:
Chr15:48703282
GRCh38:
Chr15:48411085
FBN1E2841*not provided, Marfan syndromeLikely pathogenic
(Jan 29, 2014)
criteria provided, single submitterVCV000155795
93.
GRCh37:
Chr15:48703287
GRCh38:
Chr15:48411090
FBN1Marfan syndromeUncertain significance
(Nov 7, 2017)
no assertion criteria providedVCV000549466
94.
GRCh37:
Chr15:48703291
GRCh38:
Chr15:48411094
FBN1K2838*Marfan syndromePathogenic
(Oct 10, 2016)
criteria provided, single submitterVCV000638158
95.
GRCh37:
Chr15:48703292
GRCh38:
Chr15:48411095
FBN1not providedUncertain significance
(Nov 2, 2017)
criteria provided, single submitterVCV000594582
96.
GRCh37:
Chr15:48703299
GRCh38:
Chr15:48411102
FBN1Thoracic aortic aneurysm and aortic dissectionLikely pathogenicno assertion criteria providedVCV000517128
97.
GRCh37:
Chr15:48703301
GRCh38:
Chr15:48411104
FBN1Ectopia lentis, Acromicric dysplasia, Cardiovascular phenotype,
Geleophysic dysplasia, Weill-Marchesani syndrome, Thoracic aortic aneurysm and aortic dissection,
Marfan syndrome, not specified, Thoracic aortic aneurysm and aortic dissection,
Stiff skin syndrome, MASS syndromeMarfan syndrome,
...see more
Benign/Likely benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflictsVCV000036132
98.
GRCh37:
Chr15:48703309
GRCh38:
Chr15:48411112
FBN1S2832GMarfan syndromeUncertain significance
(Jun 1, 2014)
no assertion criteria providedVCV000161236
99.
GRCh37:
Chr15:48703311
GRCh38:
Chr15:48411114
FBN1I2831SMarfan syndromeUncertain significance
(Nov 1, 2016)
criteria provided, single submitterVCV000547351
100.
GRCh37:
Chr15:48703312
GRCh38:
Chr15:48411115
FBN1I2831FMarfan syndromeUncertain significance
(Nov 1, 2016)
criteria provided, single submitterVCV000547350
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