ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 762
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038 0.00006
NM_001999.4(FBN2):c.5422+6T>G rs1000499022 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile) rs1204127908 0.00002
NM_001999.4(FBN2):c.1093A>G (p.Met365Val) rs1401325502 0.00002
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 0.00002
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser) rs746408145 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.2811A>G (p.Leu937=) rs1751336276 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val) rs779901706 0.00002
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser) rs868031420 0.00002
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu) rs1464960068 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7712-11T>A rs776926809 0.00002
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly) rs1430209734 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys) rs759013590 0.00001
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys) rs1382726763 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser) rs200850552 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1724-7T>G rs1490528227 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys) rs138963610 0.00001
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys) rs747447916 0.00001
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763 0.00001
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564 0.00001
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp) rs1751527556 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2863+3G>A rs762144935 0.00001
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg) rs547410742 0.00001
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe) rs914081385 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met) rs558632824 0.00001
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg) rs1018550681 0.00001
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe) rs199668238 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys) rs1554121027 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667 0.00001
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His) rs751661259 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn) rs1018411631 0.00001
NM_001999.4(FBN2):c.5074+5G>A rs374651068 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653 0.00001
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser) rs1033004512 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106 0.00001
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys) rs761101580 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075 0.00001
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met) rs770011418 0.00001
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr) rs1208950525 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7345+3A>G rs776419198 0.00001
NM_001999.4(FBN2):c.7471+5C>T rs369559870 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His) rs1451291857 0.00001
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg) rs375790581 0.00001
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.798C>G (p.Ile266Met) rs1754660877 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501 0.00001
NM_001999.4(FBN2):c.953-3T>A rs1020574940 0.00001
NC_000005.10:g.(?_128301372)_(128312805_?)dup
NC_000005.10:g.(?_128318139)_(128319011_?)dup
NC_000005.10:g.(?_128350858)_(128351015_?)del
NC_000005.10:g.(?_128408654)_(128530713_?)del
NC_000005.10:g.(?_128408664)_(128530703_?)del
NC_000005.10:g.(?_128530575)_(128530713_?)del
NC_000005.10:g.(?_128537340)_(128537613_?)del
NC_000005.9:g.(?_127595147)_(127873296_?)del
NC_000005.9:g.(?_127595147)_(127873296_?)dup
NC_000005.9:g.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127636489)_(127637222_?)del
NC_000005.9:g.(?_127666331)_(127799615_?)del
NC_000005.9:g.(?_127680057)_(127873296_?)del
NC_000005.9:g.(?_127685029)_(127686707_?)del
NC_000005.9:g.(?_127689859)_(127693060_?)del
NC_000005.9:g.(?_127692948)_(127697561_?)del
NC_000005.9:g.(?_127712503)_(127716032_?)del
NC_000005.9:g.(?_127728808)_(127873296_?)del
NC_000005.9:g.(?_127872075)_(127873296_?)del
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu) rs2112810970
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
NM_001999.4(FBN2):c.1078+5G>A rs1752991507
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
NM_001999.4(FBN2):c.117del (p.Gln41fs)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser) rs2112810915
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
NM_001999.4(FBN2):c.1209dup (p.Ala404fs) rs1752614082
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met) rs1752569770
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu) rs774411616
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del) rs730880109
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met) rs1158937805
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val) rs1752527949
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr) rs762032979
NM_001999.4(FBN2):c.1603+6T>C rs1752527763
NM_001999.4(FBN2):c.1604-1G>A
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe) rs1456682417
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp) rs781622385
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys) rs2126960231
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg) rs2126960181
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr) rs2126960142
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp) rs2112810796
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1723+3A>G rs2126960065
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr) rs1752093236
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln) rs1561504900
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile) rs2126954772
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly) rs2126954710
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr) rs1752034896
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu) rs1581249148
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser) rs1752034485
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly) rs781745158
NM_001999.4(FBN2):c.206C>T (p.Ala69Val) rs1756883252
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
NM_001999.4(FBN2):c.208G>C (p.Val70Leu) rs1756883199
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
NM_001999.4(FBN2):c.2095+1G>A
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2095+5G>A rs2126954577
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys) rs748861935
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg) rs1006288282
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn) rs2126947449
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg) rs145259927
NM_001999.4(FBN2):c.2303-2A>G rs1751723379
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg) rs1751722668
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2428+1G>T rs1751719964
NM_001999.4(FBN2):c.2429-1G>A rs1270553787
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu) rs2126937089
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.254+5G>A
NM_001999.4(FBN2):c.2554+5G>T rs2126936993
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp) rs756569459
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg) rs1751526889
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg) rs1168151418
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
NM_001999.4(FBN2):c.2674+6A>T rs1381952326
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter) rs111405756
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val) rs1751304507
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2863+13T>G
NM_001999.4(FBN2):c.2863+19G>A
NM_001999.4(FBN2):c.2863+5G>A
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys) rs2126919911
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg) rs1751283602
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro) rs1751282501
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala) rs1756849074
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp) rs1064797312
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr) rs375187779
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu) rs984782865
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg) rs1756848859
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile) rs952236163
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu) rs754884110
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg) rs2112809157
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His) rs2126913738
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
NM_001999.4(FBN2):c.3217+1G>A rs2126913719
NM_001999.4(FBN2):c.3217+6T>C
NM_001999.4(FBN2):c.3218-5T>G rs1554123647
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val) rs1218249269
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp) rs1751116346
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly) rs1751112929
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
NM_001999.4(FBN2):c.336C>T (p.Val112=)
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser) rs1750918793
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp) rs1750918059
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3472+3A>G rs1750917005
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser) rs1756677980
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr) rs1389689622
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro) rs1581224796
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala) rs1047464870
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
NM_001999.4(FBN2):c.3725-3C>T
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly) rs1750812827
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys) rs755489065
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3974-3T>A
NM_001999.4(FBN2):c.3974-7T>G
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp) rs1394998823
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg) rs1750789808
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg) rs1255550274
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val) rs1750732608
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys) rs866719857
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn) rs1750669779
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile) rs1750669779
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile) rs1750666696
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly) rs1750620648
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu) rs1750620267
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
NM_001999.4(FBN2):c.4471+6T>G
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.4472-3C>T
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile) rs779482726
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4594+3A>G
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+8A>G rs1750262267
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg) rs1295579995
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg) rs2126847622
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly) rs863223577
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser) rs1749990667
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
NM_001999.4(FBN2):c.5200+5_5200+10del
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr) rs748580764
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val) rs2126842904
NM_001999.4(FBN2):c.531A>G (p.Gln177=) rs863223544
NM_001999.4(FBN2):c.532+1G>A
NM_001999.4(FBN2):c.533-11T>A
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
NM_001999.4(FBN2):c.5423-17A>G rs2126839337
NM_001999.4(FBN2):c.5423-1G>C
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly) rs1749861614
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg) rs1749856162
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly) rs1749848470
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser) rs2126838900
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln) rs1447600676
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
NM_001999.4(FBN2):c.55G>A (p.Val19Met) rs1357709072
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser) rs1749845932
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg) rs1248957106
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
NM_001999.4(FBN2):c.5800+6A>T rs2126838039
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys) rs1561495424
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu) rs1749761553
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr) rs1749718755
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly) rs1749717138
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu) rs776937649
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met) rs770585421
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly) rs1749697561
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-1G>C
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala) rs753305406
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg) rs2126822046
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
NM_001999.4(FBN2):c.628+3A>G
NM_001999.4(FBN2):c.628+4A>C
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6292+6A>G
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His) rs746758405
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser) rs1266965965
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.6445+3A>G
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
NM_001999.4(FBN2):c.6511+4C>A rs368610241
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6512-2A>T
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys) rs2126818692
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
NM_001999.4(FBN2):c.6757+2C>T
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val) rs1749185390
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile) rs1581189176
NM_001999.4(FBN2):c.6880+6G>A
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6881-1G>A
NM_001999.4(FBN2):c.6881-1G>T
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu) rs199560824
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=) rs1274780641
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala) rs1554117875
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.7011A>G (p.Val2337=) rs2126816680
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly) rs1765463264
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val) rs754380350
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile) rs768193630
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro) rs2126809547
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
NM_001999.4(FBN2):c.7345+6G>A
NM_001999.4(FBN2):c.7346-3C>T rs1439389862
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile) rs1019541548
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu) rs1765435966
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala) rs2126808746
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr) rs779483120
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp) rs2112811070
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val) rs768941456
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter) rs1453328210
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe) rs755760127
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr) rs1765342729
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg) rs2126805299
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
NM_001999.4(FBN2):c.7840+1G>A
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=) rs772818240
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7959C>A (p.Val2653=) rs773175830
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro) rs1765039937
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser) rs1229950368
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser) rs1765038866
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe) rs2126795619
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr) rs1387382061
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp) rs1765035115
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr) rs2126795584
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp) rs776788539
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser) rs1754660014
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys) rs758149534
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser) rs1765029329
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=) rs775766250
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile) rs1764982741
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr) rs1308073420
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe) rs1764918027
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met) rs2126791949
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly) rs1764914190
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile) rs2126791814
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg) rs2127056896
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys) rs762956345
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn) rs2126791602
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu) rs1754069364
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser) rs2127000101
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)

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.