ClinVar Miner

List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by Invitae

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 448
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 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.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln) rs1060501079 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu) rs867058901 0.00001
NM_000138.5(FBN1):c.610T>C (p.Cys204Arg) rs2044026132 0.00001
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly) rs111687884 0.00001
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg) rs756219617 0.00001
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) rs770443276 0.00001
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His) rs748934203 0.00001
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr) rs1581226080 0.00001
NM_003238.6(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.9:g.(?_127666245)_(127668746_?)del
NC_000014.8:g.(?_76425530)_(76432058_?)del
NC_000014.9:g.(?_75958692)_(75965705_?)del
NC_000014.9:g.(?_75958692)_(75971728_?)del
NC_000015.10:g.(?_48410980)_(48411389_?)del
NC_000015.10:g.(?_48444521)_(48445524_?)del
NC_000015.10:g.(?_48470634)_(48470756_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)dup
NC_000015.9:g.(?_48704746)_(48713023_?)dup
NC_000015.9:g.(?_48762825)_(48762959_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48888460)_(48905309_?)dup
NM_000138.5(FBN1):c.1006T>G (p.Cys336Gly) rs1555400612
NM_000138.5(FBN1):c.1007G>A (p.Cys336Tyr) rs2141336245
NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)
NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr) rs1555400601
NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1147+2T>A rs2141335915
NM_000138.5(FBN1):c.1420T>G (p.Cys474Gly) rs1555400380
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg) rs794728326
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.5(FBN1):c.1525G>T (p.Gly509Cys) rs1060501073
NM_000138.5(FBN1):c.1538G>C (p.Cys513Ser) rs1060501036
NM_000138.5(FBN1):c.1588+1G>A rs2141327634
NM_000138.5(FBN1):c.1637G>A (p.Cys546Tyr)
NM_000138.5(FBN1):c.164G>A (p.Gly55Glu) rs2140787387
NM_000138.5(FBN1):c.1665C>G (p.Cys555Trp) rs531101773
NM_000138.5(FBN1):c.1671T>G (p.Cys557Trp) rs2141323336
NM_000138.5(FBN1):c.1678G>T (p.Gly560Cys) rs1064794283
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.1745G>A (p.Cys582Tyr) rs2141321627
NM_000138.5(FBN1):c.1753G>A (p.Gly585Arg) rs1085307528
NM_000138.5(FBN1):c.1836_1837+2delinsGGG rs2043731288
NM_000138.5(FBN1):c.1846G>C (p.Glu616Gln)
NM_000138.5(FBN1):c.1849_1851del (p.Cys617del) rs2141317465
NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro) rs1566914005
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr) rs878853676
NM_000138.5(FBN1):c.1916_1917delinsTG (p.Cys639Leu) rs2043696899
NM_000138.5(FBN1):c.1960G>A (p.Asp654Asn)
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.2086T>G (p.Cys696Gly) rs2141315718
NM_000138.5(FBN1):c.2087G>T (p.Cys696Phe) rs1566913685
NM_000138.5(FBN1):c.2096G>C (p.Cys699Ser) rs2043684108
NM_000138.5(FBN1):c.211T>G (p.Trp71Gly) rs1555405658
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.5(FBN1):c.2222A>G (p.Asn741Ser)
NM_000138.5(FBN1):c.2223C>A (p.Asn741Lys)
NM_000138.5(FBN1):c.2258G>A (p.Gly753Glu) rs1555399365
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2289C>G (p.Cys763Trp) rs181311020
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2306G>T (p.Cys769Phe) rs794728190
NM_000138.5(FBN1):c.2341T>G (p.Cys781Gly)
NM_000138.5(FBN1):c.2420-2A>G rs1060501052
NM_000138.5(FBN1):c.247+3A>C rs201854371
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg) rs2043596204
NM_000138.5(FBN1):c.2561G>C (p.Trp854Ser) rs1597568968
NM_000138.5(FBN1):c.2562G>T (p.Trp854Cys) rs1555399164
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2639G>C (p.Gly880Ala)
NM_000138.5(FBN1):c.2639G>T (p.Gly880Val) rs886038953
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+1G>A
NM_000138.5(FBN1):c.2687G>C (p.Cys896Ser)
NM_000138.5(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2728_2728+1delinsAA rs1566911331
NM_000138.5(FBN1):c.2737G>A (p.Glu913Lys) rs1555398996
NM_000138.5(FBN1):c.2738A>C (p.Glu913Ala) rs1555398995
NM_000138.5(FBN1):c.274G>A (p.Gly92Arg) rs2140734026
NM_000138.5(FBN1):c.2803T>G (p.Cys935Gly)
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu) rs112911555
NM_000138.5(FBN1):c.2873G>C (p.Cys958Ser) rs1555398834
NM_000138.5(FBN1):c.2943C>G (p.Cys981Trp)
NM_000138.5(FBN1):c.2953G>T (p.Gly985Trp) rs794728199
NM_000138.5(FBN1):c.3083A>G (p.Asp1028Gly) rs1131691317
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser) rs886039208
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr) rs1555398659
NM_000138.5(FBN1):c.3203G>C (p.Cys1068Ser) rs1555398659
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3209-2A>C rs2043526284
NM_000138.5(FBN1):c.3250G>C (p.Gly1084Arg) rs112553035
NM_000138.5(FBN1):c.3271G>T (p.Gly1091Trp) rs2141294717
NM_000138.5(FBN1):c.3272G>A (p.Gly1091Glu) rs1566909798
NM_000138.5(FBN1):c.3284G>A (p.Cys1095Tyr) rs1597563934
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3331T>G (p.Cys1111Gly) rs2141294587
NM_000138.5(FBN1):c.3332G>C (p.Cys1111Ser)
NM_000138.5(FBN1):c.3343G>T (p.Asp1115Tyr)
NM_000138.5(FBN1):c.3347A>G (p.Glu1116Gly) rs1566909547
NM_000138.5(FBN1):c.3371G>C (p.Cys1124Ser) rs2141293726
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3380G>A (p.Gly1127Asp) rs1064794882
NM_000138.5(FBN1):c.3393C>A (p.Asn1131Lys) rs775565475
NM_000138.5(FBN1):c.3419G>A (p.Cys1140Tyr) rs1060501075
NM_000138.5(FBN1):c.3464A>G (p.Asp1155Gly) rs2141293332
NM_000138.5(FBN1):c.3464A>T (p.Asp1155Val)
NM_000138.5(FBN1):c.3497G>A (p.Cys1166Tyr) rs2043515038
NM_000138.5(FBN1):c.3505G>C (p.Gly1169Arg)
NM_000138.5(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys) rs1555398515
NM_000138.5(FBN1):c.355T>C (p.Cys119Arg) rs2044551443
NM_000138.5(FBN1):c.356G>A (p.Cys119Tyr)
NM_000138.5(FBN1):c.3583T>G (p.Cys1195Gly) rs2141293091
NM_000138.5(FBN1):c.3589+1del
NM_000138.5(FBN1):c.3590-2A>G rs2043498977
NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.5(FBN1):c.3598G>A (p.Glu1200Lys)
NM_000138.5(FBN1):c.3616G>A (p.Gly1206Ser)
NM_000138.5(FBN1):c.3616G>C (p.Gly1206Arg) rs1555398411
NM_000138.5(FBN1):c.3617G>T (p.Gly1206Val)
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3624T>G (p.Cys1208Trp)
NM_000138.5(FBN1):c.3634T>C (p.Cys1212Arg) rs2043497933
NM_000138.5(FBN1):c.3661T>A (p.Cys1221Ser) rs2141291310
NM_000138.5(FBN1):c.3677G>T (p.Gly1226Val) rs1555398387
NM_000138.5(FBN1):c.3706T>G (p.Cys1236Gly) rs1555398380
NM_000138.5(FBN1):c.3721G>A (p.Glu1241Lys)
NM_000138.5(FBN1):c.3722A>G (p.Glu1241Gly) rs2043485666
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp) rs772890884
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.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.3893A>C (p.Asn1298Thr)
NM_000138.5(FBN1):c.3904_3915del (p.Ser1302_Cys1305del)
NM_000138.5(FBN1):c.3928G>C (p.Gly1310Arg)
NM_000138.5(FBN1):c.3928G>T (p.Gly1310Cys) rs2043466325
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=) rs140648
NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) rs1555397741
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4087G>T (p.Asp1363Tyr)
NM_000138.5(FBN1):c.4088-2A>G
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln) rs763449629
NM_000138.5(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.5(FBN1):c.4139G>A (p.Cys1380Tyr)
NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) rs794728220
NM_000138.5(FBN1):c.4211-2A>G
NM_000138.5(FBN1):c.4217A>G (p.Asp1406Gly) rs2043386794
NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys) rs1555397548
NM_000138.5(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.5(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.5(FBN1):c.4459+2T>G rs1555397393
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.449G>T (p.Cys150Phe)
NM_000138.5(FBN1):c.4510A>T (p.Asn1504Tyr) rs1555397211
NM_000138.5(FBN1):c.4511A>T (p.Asn1504Ile) rs1555397209
NM_000138.5(FBN1):c.4525T>G (p.Tyr1509Asp)
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4538G>T (p.Cys1513Phe) rs1555397204
NM_000138.5(FBN1):c.4562C>T (p.Pro1521Leu) rs2141272892
NM_000138.5(FBN1):c.4583-5A>G rs778966916
NM_000138.5(FBN1):c.4589G>C (p.Arg1530Pro) rs778710767
NM_000138.5(FBN1):c.4589G>T (p.Arg1530Leu)
NM_000138.5(FBN1):c.461G>A (p.Cys154Tyr)
NM_000138.5(FBN1):c.461G>T (p.Cys154Phe)
NM_000138.5(FBN1):c.4685G>T (p.Cys1562Phe) rs2141272349
NM_000138.5(FBN1):c.4729T>C (p.Cys1577Arg)
NM_000138.5(FBN1):c.4741_4747+7del
NM_000138.5(FBN1):c.4747+1G>A rs2141272220
NM_000138.5(FBN1):c.4747+3A>T rs1555397145
NM_000138.5(FBN1):c.4747+5G>T rs193922209
NM_000138.5(FBN1):c.4748-1G>A rs2141270027
NM_000138.5(FBN1):c.4748-2A>G rs2141270032
NM_000138.5(FBN1):c.4817-2A>G rs1555397008
NM_000138.5(FBN1):c.4857_4865del (p.Gly1620_Cys1622del) rs2141269721
NM_000138.5(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.5(FBN1):c.4897T>C (p.Cys1633Arg)
NM_000138.5(FBN1):c.4996_5007del (p.Thr1666_Asn1669del) rs2141267678
NM_000138.5(FBN1):c.5060G>A (p.Cys1687Tyr)
NM_000138.5(FBN1):c.5060G>T (p.Cys1687Phe)
NM_000138.5(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.5158T>C (p.Cys1720Arg) rs1597545230
NM_000138.5(FBN1):c.5207G>A (p.Cys1736Tyr) rs1060501070
NM_000138.5(FBN1):c.5225-2A>G
NM_000138.5(FBN1):c.5261G>A (p.Gly1754Asp)
NM_000138.5(FBN1):c.5261G>T (p.Gly1754Val)
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr) rs2043241537
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5422_5422+1delinsTT rs1566901570
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5452T>G (p.Cys1818Gly)
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.5512G>C (p.Gly1838Arg) rs397515823
NM_000138.5(FBN1):c.5545+1G>A rs1260109901
NM_000138.5(FBN1):c.5545+1del rs1566900469
NM_000138.5(FBN1):c.5545+2T>C rs2043209059
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5555A>C (p.Glu1852Ala)
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5628C>G (p.Cys1876Trp) rs2141252143
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His) rs193922216
NM_000138.5(FBN1):c.5671G>T (p.Asp1891Tyr)
NM_000138.5(FBN1):c.5672-2A>T
NM_000138.5(FBN1):c.5672-87A>G rs1060501029
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.5679T>G (p.Asn1893Lys) rs1597533706
NM_000138.5(FBN1):c.5719A>G (p.Asn1907Asp) rs397515824
NM_000138.5(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.5(FBN1):c.5728G>T (p.Gly1910Cys) rs1597533619
NM_000138.5(FBN1):c.5740T>G (p.Cys1914Gly) rs2141250333
NM_000138.5(FBN1):c.5788+2T>C rs1555395818
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5824T>A (p.Cys1942Ser) rs1555395762
NM_000138.5(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.5(FBN1):c.5825G>A (p.Cys1942Tyr) rs794728241
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)
NM_000138.5(FBN1):c.5863CAGTGC[1] (p.1955QC[1])
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5929T>A (p.Cys1977Ser) rs2141248174
NM_000138.5(FBN1):c.5952T>G (p.Cys1984Trp)
NM_000138.5(FBN1):c.5959G>T (p.Gly1987Cys)
NM_000138.5(FBN1):c.5965T>A (p.Cys1989Ser) rs2043139988
NM_000138.5(FBN1):c.5965T>G (p.Cys1989Gly) rs2043139988
NM_000138.5(FBN1):c.5999G>A (p.Cys2000Tyr) rs1555395645
NM_000138.5(FBN1):c.6086G>A (p.Cys2029Tyr) rs1057517855
NM_000138.5(FBN1):c.6163+1G>A rs1566897374
NM_000138.5(FBN1):c.6163+1_6163+2del
NM_000138.5(FBN1):c.6164-2A>G rs794728244
NM_000138.5(FBN1):c.6208T>C (p.Cys2070Arg)
NM_000138.5(FBN1):c.6209G>A (p.Cys2070Tyr) rs1060501044
NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe) rs1060501044
NM_000138.5(FBN1):c.6250T>A (p.Cys2084Ser) rs2141241499
NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp) rs878853687
NM_000138.5(FBN1):c.6313_6313+1delinsAC
NM_000138.5(FBN1):c.6314-7_6322del rs2141240946
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6373_6379+1dup
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6379+2T>C rs113453570
NM_000138.5(FBN1):c.6379+2T>G rs113453570
NM_000138.5(FBN1):c.6379+5G>A rs1085307875
NM_000138.5(FBN1):c.6380-2A>G rs886041482
NM_000138.5(FBN1):c.6386A>T (p.Asp2129Val) rs1566896114
NM_000138.5(FBN1):c.6430A>C (p.Asn2144His) rs886038943
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp) rs1597525958
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.6503A>G (p.Asp2168Gly) rs1555395015
NM_000138.5(FBN1):c.6505G>A (p.Glu2169Lys)
NM_000138.5(FBN1):c.6527G>A (p.Cys2176Tyr)
NM_000138.5(FBN1):c.6528T>G (p.Cys2176Trp) rs2141237128
NM_000138.5(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.5(FBN1):c.6568T>C (p.Cys2190Arg)
NM_000138.5(FBN1):c.6568T>G (p.Cys2190Gly)
NM_000138.5(FBN1):c.6575G>A (p.Cys2192Tyr) rs2043050838
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp) rs369058466
NM_000138.5(FBN1):c.6611G>C (p.Cys2204Ser)
NM_000138.5(FBN1):c.6615A>G (p.Glu2205=)
NM_000138.5(FBN1):c.6617-1G>C rs2141235271
NM_000138.5(FBN1):c.6617-2A>C rs1597522588
NM_000138.5(FBN1):c.6617-2A>G
NM_000138.5(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.5(FBN1):c.6694T>G (p.Cys2232Gly)
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6698C>A (p.Pro2233His) rs1566894783
NM_000138.5(FBN1):c.6698C>T (p.Pro2233Leu) rs1566894783
NM_000138.5(FBN1):c.6740-10T>G rs1456822662
NM_000138.5(FBN1):c.6740-3C>G rs1566894334
NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) rs794728256
NM_000138.5(FBN1):c.6806T>A (p.Ile2269Asn) rs193922228
NM_000138.5(FBN1):c.6815A>G (p.Tyr2272Cys) rs2141232534
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6826T>G (p.Cys2276Gly) rs2043017257
NM_000138.5(FBN1):c.6865T>A (p.Cys2289Ser)
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly) rs1555394644
NM_000138.5(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.5(FBN1):c.6992G>T (p.Cys2331Phe) rs397515842
NM_000138.5(FBN1):c.6997+4A>G rs727503055
NM_000138.5(FBN1):c.7003C>G (p.Arg2335Gly) rs794728262
NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)
NM_000138.5(FBN1):c.7088G>T (p.Cys2363Phe) rs2042988482
NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)
NM_000138.5(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7184G>A (p.Gly2395Glu)
NM_000138.5(FBN1):c.7216T>C (p.Cys2406Arg) rs2042976167
NM_000138.5(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) rs794728270
NM_000138.5(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.5(FBN1):c.7339G>C (p.Glu2447Gln)
NM_000138.5(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.5(FBN1):c.737-17_740del rs1597591735
NM_000138.5(FBN1):c.7376G>A (p.Cys2459Tyr) rs1555394406
NM_000138.5(FBN1):c.7376G>T (p.Cys2459Phe) rs1555394406
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser) rs1555394405
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.7412C>T (p.Pro2471Leu) rs193922233
NM_000138.5(FBN1):c.7418G>A (p.Gly2473Asp) rs2042971166
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7453+2T>G
NM_000138.5(FBN1):c.7463A>G (p.Glu2488Gly)
NM_000138.5(FBN1):c.7465T>A (p.Cys2489Ser) rs1057520728
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.5(FBN1):c.748T>C (p.Cys250Arg)
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.5(FBN1):c.7571-1G>A rs1566891706
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7603T>G (p.Cys2535Gly)
NM_000138.5(FBN1):c.7604_7605delinsTG (p.Cys2535Leu)
NM_000138.5(FBN1):c.7622G>A (p.Cys2541Tyr)
NM_000138.5(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.5(FBN1):c.7655G>T (p.Cys2552Phe) rs113334360
NM_000138.5(FBN1):c.7710_7712del (p.Glu2570_Cys2571delinsAsp)
NM_000138.5(FBN1):c.7713_7730del (p.Glu2572_Cys2577del) rs2141220791
NM_000138.5(FBN1):c.7765A>G (p.Arg2589Gly) rs111413134
NM_000138.5(FBN1):c.7768T>G (p.Cys2590Gly)
NM_000138.5(FBN1):c.776G>T (p.Gly259Val) rs751169871
NM_000138.5(FBN1):c.7787A>G (p.Tyr2596Cys) rs1566891404
NM_000138.5(FBN1):c.7819+1G>T rs112907302
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) rs794728338
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
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.7880G>C (p.Gly2627Ala) rs1555393875
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7976_7977delinsTT (p.Cys2659Phe)
NM_000138.5(FBN1):c.7987_8004del (p.Cys2663_Gly2668del) rs1597509607
NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) rs794728339
NM_000138.5(FBN1):c.8012T>C (p.Leu2671Pro) rs2141214610
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr) rs1555393831
NM_000138.5(FBN1):c.8015G>T (p.Cys2672Phe) rs1555393831
NM_000138.5(FBN1):c.8020T>C (p.Cys2674Arg) rs1060501014
NM_000138.5(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.5(FBN1):c.8051+1G>A rs2141214507
NM_000138.5(FBN1):c.8051+2T>A rs2141214505
NM_000138.5(FBN1):c.8052-2A>G
NM_000138.5(FBN1):c.8057G>A (p.Cys2686Tyr)
NM_000138.5(FBN1):c.8087del (p.Asn2696fs) rs1060501065
NM_000138.5(FBN1):c.811T>G (p.Cys271Gly) rs1060501019
NM_000138.5(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.5(FBN1):c.8333T>G (p.Leu2778Arg) rs1555393553
NM_000138.5(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.5(FBN1):c.8444T>A (p.Leu2815His) rs113170280
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.5(FBN1):c.8561del (p.Leu2854fs) rs1060501033
NM_000138.5(FBN1):c.8591T>C (p.Met2864Thr) rs1060501028
NM_000138.5(FBN1):c.863-2A>G
NM_000138.5(FBN1):c.938G>T (p.Cys313Phe) rs2141343367
NM_000138.5(FBN1):c.943T>C (p.Cys315Arg)
NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del) rs2043846857
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr) rs1057524398
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser) rs2126912100
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe) rs1750811749
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr) rs886038935
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser) rs1750667332
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr) rs2126888942
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr) rs2126833724
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.350G>A (p.Gly117Asp) rs2100790073
NM_003036.4(SKI):c.68A>C (p.Gln23Pro) rs1557806222
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr) rs1558264109
NM_003238.6(TGFB2):c.346+1G>A rs1553292145
NM_003238.6(TGFB2):c.346+1G>T rs1553292145
NM_003238.6(TGFB2):c.755-5_755-2delinsG rs1553303161
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C
NM_003239.5(TGFB3):c.1081-1G>A
NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)
NM_003239.5(TGFB3):c.353-1G>C rs1555360883
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
NM_003239.5(TGFB3):c.517-1G>C rs1566682530
NM_003239.5(TGFB3):c.517-2A>G rs2035287906
NM_003239.5(TGFB3):c.646+1G>T
NM_003239.5(TGFB3):c.754+1G>A
NM_003239.5(TGFB3):c.755-1G>A
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.5(TGFB3):c.926+1G>A rs2035180096
NM_003239.5(TGFB3):c.926+1G>T rs2035180096
NM_003239.5(TGFB3):c.927-1G>C rs767548724
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) rs2140236263

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.