ClinVar Miner

List of variants in gene FBN1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 348
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln) rs768831064 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys) rs1064793112 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys) rs750720912 0.00001
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) rs373510719 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys) rs1318405523 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
GRCh37/hg19 15q21.1(chr15:48736738-48760299)x3
GRCh37/hg19 15q21.1(chr15:48888480-48905289)x3
NM_000138.4(FBN1):c.5067_5073del rs886038823
NM_000138.5(FBN1):c.1148-1G>A rs1555400431
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1420T>C (p.Cys474Arg) rs1555400380
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.1516A>T (p.Asn506Tyr) rs2141327814
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.5(FBN1):c.1538G>A (p.Cys513Tyr) rs1060501036
NM_000138.5(FBN1):c.1545_1546inv (p.Cys515_Arg516delinsTrpGly)
NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg) rs794728168
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.1583G>A (p.Cys528Tyr) rs794728170
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly) rs1566914907
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.1774G>T (p.Gly592Cys) rs1057521211
NM_000138.5(FBN1):c.1783A>T (p.Lys595Ter) rs1555399958
NM_000138.5(FBN1):c.1837+1G>A rs397515762
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr) rs1555399825
NM_000138.5(FBN1):c.1883G>C (p.Cys628Ser)
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1951del (p.Val651fs)
NM_000138.5(FBN1):c.198C>A (p.Tyr66Ter) rs2044669179
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2114-2A>G rs886041440
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2168A>G (p.Asp723Gly) rs137854463
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2262_2263del (p.Tyr754_Glu755delinsTer) rs794728300
NM_000138.5(FBN1):c.2293+5G>A rs794728327
NM_000138.5(FBN1):c.2293G>A (p.Asp765Asn) rs2043615915
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala) rs794728189
NM_000138.5(FBN1):c.2344A>T (p.Arg782Ter) rs752891726
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr) rs886038984
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2462G>C (p.Cys821Ser)
NM_000138.5(FBN1):c.247+5G>A rs2044668542
NM_000138.5(FBN1):c.247+9A>G rs1298547542
NM_000138.5(FBN1):c.2534G>C (p.Cys845Ser) rs1597569172
NM_000138.5(FBN1):c.2539+1G>A rs794728192
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg) rs794728194
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+1G>T
NM_000138.5(FBN1):c.2677+5G>C rs1085307946
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.2678-3C>G rs747274959
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2804G>A (p.Cys935Tyr) rs1566910918
NM_000138.5(FBN1):c.2809T>G (p.Cys937Gly)
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2872T>C (p.Cys958Arg) rs2043545592
NM_000138.5(FBN1):c.2920dup (p.Arg974fs) rs1555398825
NM_000138.5(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg) rs1555398793
NM_000138.5(FBN1):c.305G>T (p.Cys102Phe) rs794728292
NM_000138.5(FBN1):c.306C>A (p.Cys102Ter) rs25388
NM_000138.5(FBN1):c.3082G>A (p.Asp1028Asn) rs1555398769
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3094T>C (p.Cys1032Arg) rs1555398684
NM_000138.5(FBN1):c.3130dup (p.Cys1044fs)
NM_000138.5(FBN1):c.3131G>T (p.Cys1044Phe) rs730880100
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3145G>T (p.Gly1049Cys) rs778181932
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter) rs1060501040
NM_000138.5(FBN1):c.3230C>G (p.Ser1077Cys)
NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser) rs1064793113
NM_000138.5(FBN1):c.3289T>C (p.Cys1097Arg) rs1131691578
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala) rs112547596
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3338-1G>C rs2141293811
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3380G>T (p.Gly1127Val) rs1064794882
NM_000138.5(FBN1):c.3475T>A (p.Cys1159Ser) rs794728205
NM_000138.5(FBN1):c.3496T>C (p.Cys1166Arg) rs1064794796
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del) rs1555398404
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3668G>T (p.Cys1223Phe) rs137854469
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His) rs794728208
NM_000138.5(FBN1):c.3713A>G (p.Asp1238Gly)
NM_000138.5(FBN1):c.3761G>A (p.Cys1254Tyr) rs1131691805
NM_000138.5(FBN1):c.3781T>A (p.Tyr1261Asn)
NM_000138.5(FBN1):c.3789C>G (p.Cys1263Trp) rs1057518444
NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) rs794728210
NM_000138.5(FBN1):c.3839-5_3842del rs1555398178
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.386del (p.Cys129fs) rs1555405046
NM_000138.5(FBN1):c.387C>G (p.Cys129Trp) rs1566935514
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3902G>A (p.Gly1301Asp) rs1566908083
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
NM_000138.5(FBN1):c.3929G>A (p.Gly1310Asp)
NM_000138.5(FBN1):c.392_401dup (p.Cys134Ter) rs2140718078
NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)
NM_000138.5(FBN1):c.3965-3C>G
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4024A>C (p.Thr1342Pro) rs2141280212
NM_000138.5(FBN1):c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346delinsTyrIleTer) rs1597554086
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4087G>A (p.Asp1363Asn)
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly) rs794728217
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg) rs1555397670
NM_000138.5(FBN1):c.4127del (p.Gln1376fs)
NM_000138.5(FBN1):c.4138T>C (p.Cys1380Arg) rs1131691588
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4163_4164del (p.Arg1388fs)
NM_000138.5(FBN1):c.4210G>T (p.Asp1404Tyr)
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.443-1G>A rs1555404821
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4489T>C (p.Cys1497Arg) rs1555397213
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4520G>T (p.Gly1507Val) rs794728225
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
NM_000138.5(FBN1):c.4582+4del rs2141272841
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.458del (p.Gly153fs)
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.4685G>A (p.Cys1562Tyr)
NM_000138.5(FBN1):c.4688G>C (p.Cys1563Ser) rs1131691871
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter) rs2141272261
NM_000138.5(FBN1):c.4831C>T (p.Gln1611Ter) rs1555397004
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4925A>G (p.Asp1642Gly) rs1597546984
NM_000138.5(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.4936T>G (p.Cys1646Gly) rs1064793115
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.4981G>C (p.Gly1661Arg) rs2043300995
NM_000138.5(FBN1):c.5009A>G (p.Tyr1670Cys) rs1566903532
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp) rs1555396848
NM_000138.5(FBN1):c.5066-2A>G
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5095T>G (p.Tyr1699Asp)
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.5(FBN1):c.5197T>C (p.Cys1733Arg) rs794728235
NM_000138.5(FBN1):c.5285G>T (p.Gly1762Val) rs1057524697
NM_000138.5(FBN1):c.5296+2T>G
NM_000138.5(FBN1):c.5296+5G>A rs1566902515
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5434T>G (p.Cys1812Gly) rs1597537935
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5541C>A (p.Cys1847Ter) rs1597537698
NM_000138.5(FBN1):c.5541dup (p.Asn1848fs) rs2043209125
NM_000138.5(FBN1):c.5579G>T (p.Cys1860Phe)
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5665T>C (p.Cys1889Arg)
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5672A>G (p.Asp1891Gly) rs2043163843
NM_000138.5(FBN1):c.5680G>A (p.Glu1894Lys) rs1057521101
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5767T>C (p.Ser1923Pro) rs794728239
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
NM_000138.5(FBN1):c.5825G>T (p.Cys1942Phe) rs794728241
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.5(FBN1):c.5917+1G>A rs363808
NM_000138.5(FBN1):c.5917+2T>C
NM_000138.5(FBN1):c.5917G>A (p.Asp1973Asn) rs1597532579
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp) rs2043140093
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe) rs1555395645
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6037+1G>A rs1064796636
NM_000138.5(FBN1):c.6037+2_6037+24del rs1555395636
NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del) rs2043117709
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6112T>G (p.Cys2038Gly) rs1064796731
NM_000138.5(FBN1):c.6163+1del
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys) rs1555395266
NM_000138.5(FBN1):c.6206del (p.Lys2069fs) rs1057518034
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6251G>T (p.Cys2084Phe) rs794728245
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr) rs1085307468
NM_000138.5(FBN1):c.6313+1G>T
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313G>C (p.Glu2105Gln) rs794728247
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6419G>A (p.Gly2140Glu) rs1064793118
NM_000138.5(FBN1):c.641G>A (p.Gly214Asp)
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6496G>T (p.Asp2166Tyr) rs794728252
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg) rs1597523873
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6596del (p.Gly2199fs) rs1555395004
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr) rs886039158
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6634del (p.Gln2212fs) rs1597522557
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6656T>G (p.Phe2219Cys) rs397515837
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys) rs368439899
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6747del (p.Asp2249fs)
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys) rs1597520789
NM_000138.5(FBN1):c.6751T>G (p.Cys2251Gly) rs112836174
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6982C>T (p.Gln2328Ter) rs371097218
NM_000138.5(FBN1):c.6997+5G>A rs2042997205
NM_000138.5(FBN1):c.700_702delinsTGT (p.Gly234Cys) rs794728293
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7132T>C (p.Cys2378Arg) rs794728267
NM_000138.5(FBN1):c.7204G>C (p.Asp2402His) rs1057524757
NM_000138.5(FBN1):c.7216T>A (p.Cys2406Ser)
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7217G>T (p.Cys2406Phe) rs1131691479
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) rs794728269
NM_000138.5(FBN1):c.7252dup (p.Cys2418fs)
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7330+3_7330+6del rs1597516325
NM_000138.5(FBN1):c.7348C>T (p.Gln2450Ter)
NM_000138.5(FBN1):c.736+1G>A rs1064796866
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.737-2A>G rs1131691772
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg) rs1555394399
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs) rs1057518012
NM_000138.5(FBN1):c.7454A>G (p.Asp2485Gly) rs1085307921
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7541G>A (p.Gly2514Glu)
NM_000138.5(FBN1):c.7600C>A (p.Leu2534Met) rs794728274
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) rs1555394210
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7770C>G (p.Cys2590Trp) rs1064796667
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn) rs1597512576
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr) rs1597512576
NM_000138.5(FBN1):c.7862C>G (p.Ser2621Cys) rs1085307887
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7867C>G (p.His2623Asp)
NM_000138.5(FBN1):c.786C>G (p.Cys262Trp)
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu) rs1555393875
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7907G>T (p.Gly2636Val) rs2042898109
NM_000138.5(FBN1):c.7931_7934dup (p.Cys2646fs) rs1555393865
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg) rs1555393863
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8021G>C (p.Cys2674Ser) rs1555393827
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8170C>T (p.Pro2724Ser) rs1085307904
NM_000138.5(FBN1):c.8226+5G>A rs193922243
NM_000138.5(FBN1):c.8275G>T (p.Glu2759Ter) rs1057518023
NM_000138.5(FBN1):c.8360dup (p.Thr2788fs) rs1555393548
NM_000138.5(FBN1):c.8422del (p.Gln2808fs) rs1131691692
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.855dup (p.Cys286fs) rs2141353573
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
NM_000138.5(FBN1):c.895T>C (p.Cys299Arg) rs1597587564
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.