ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 448
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val) rs144933639 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu) rs766271753 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1643A>C (p.Asp548Ala) rs757406333 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His) rs139428175 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 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.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615 0.00004
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn) rs747748647 0.00004
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.338-7T>G rs763168964 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169 0.00003
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327 0.00002
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269 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.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2144G>A (p.Cys715Tyr) rs766592611 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3700A>G (p.Thr1234Ala) rs745525613 0.00002
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929 0.00002
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871 0.00002
NM_001999.4(FBN2):c.4343C>T (p.Ser1448Leu) rs1222584747 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398 0.00002
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile) rs527609978 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.785G>A (p.Arg262Gln) rs763997393 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.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.-2C>A rs776371080 0.00001
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887 0.00001
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121 0.00001
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys) rs563228953 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1301C>G (p.Pro434Arg) rs761606981 0.00001
NM_001999.4(FBN2):c.1346A>G (p.Asn449Ser) rs759805834 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys) rs775037345 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 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.1841A>T (p.Asn614Ile) rs770876270 0.00001
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2222G>A (p.Cys741Tyr) rs1751862882 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 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.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 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.3534G>C (p.Glu1178Asp) rs771385579 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.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3685C>T (p.Pro1229Ser) rs772682329 0.00001
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3974-12T>C rs1328132019 0.00001
NM_001999.4(FBN2):c.3976G>A (p.Val1326Ile) rs763789417 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 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.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 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.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5502A>G (p.Glu1834=) rs373545461 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5570G>A (p.Gly1857Asp) rs1450254210 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu) rs1064796980 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.5999T>A (p.Leu2000Gln) rs766604067 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 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.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6923G>A (p.Arg2308Lys) rs765129486 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.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7324G>A (p.Gly2442Arg) rs750984768 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7345G>A (p.Asp2449Asn) rs759198660 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala) rs886039005 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 0.00001
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 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.8062C>G (p.Gln2688Glu) rs539853433 0.00001
NM_001999.4(FBN2):c.8193-7C>G rs754837805 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.830T>C (p.Val277Ala) rs961188237 0.00001
NM_001999.4(FBN2):c.8321A>T (p.Asp2774Val) rs1351974492 0.00001
NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr) rs751287011 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu) rs863223548
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg) rs771054241
NM_001999.4(FBN2):c.1131del (p.Glu378fs)
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val) rs863223549
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg) rs863223550
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu) rs1554066016
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val) rs863223551
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1453A>G (p.Ile485Val) rs772773731
NM_001999.4(FBN2):c.14G>C (p.Arg5Pro) rs1194684025
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1607_1609del (p.Val536del) rs863223594
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr) rs863223552
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.1774G>A (p.Val592Met) rs762427107
NM_001999.4(FBN2):c.1780A>C (p.Thr594Pro) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1798T>C (p.Cys600Arg) rs1752120226
NM_001999.4(FBN2):c.1832A>C (p.Asp611Ala) rs1752118700
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1922G>A (p.Cys641Tyr) rs863223555
NM_001999.4(FBN2):c.1924A>G (p.Ile642Val) rs863223598
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.2029G>A (p.Glu677Lys) rs753334611
NM_001999.4(FBN2):c.2150G>T (p.Arg717Leu) rs773896695
NM_001999.4(FBN2):c.2155T>C (p.Phe719Leu) rs863223557
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.2219C>T (p.Pro740Leu) rs1204171410
NM_001999.4(FBN2):c.2296G>A (p.Gly766Arg) rs1393754058
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs) rs1554063788
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser) rs1057524398
NM_001999.4(FBN2):c.245T>G (p.Val82Gly)
NM_001999.4(FBN2):c.2479C>G (p.Arg827Gly) rs574985859
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.2516C>T (p.Pro839Leu) rs1283323687
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.2602A>G (p.Asn868Asp)
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2687G>A (p.Gly896Glu) rs767271613
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.2717G>T (p.Arg906Leu) rs370973542
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2750A>T (p.Lys917Ile)
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
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.2878G>A (p.Glu960Lys) rs876661212
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3281G>A (p.Gly1094Glu) rs863223563
NM_001999.4(FBN2):c.3347T>G (p.Ile1116Ser) rs2126903891
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3360G>T (p.Arg1120Ser) rs863223564
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3473-1G>C rs2126902237
NM_001999.4(FBN2):c.3475A>T (p.Ile1159Phe) rs765793736
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3640G>A (p.Gly1214Arg) rs2126898656
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3709C>A (p.Arg1237Ser) rs746570981
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3874G>T (p.Asp1292Tyr)
NM_001999.4(FBN2):c.3902A>G (p.Asn1301Ser) rs1018624400
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr) rs2126896759
NM_001999.4(FBN2):c.3985T>C (p.Cys1329Arg) rs2126895513
NM_001999.4(FBN2):c.4087A>G (p.Thr1363Ala) rs863223571
NM_001999.4(FBN2):c.4121G>T (p.Gly1374Val) rs2126892178
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg) rs863223606
NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)
NM_001999.4(FBN2):c.4157A>G (p.Asn1386Ser)
NM_001999.4(FBN2):c.4193G>T (p.Gly1398Val) rs2126892048
NM_001999.4(FBN2):c.4195T>G (p.Trp1399Gly)
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp) rs886039151
NM_001999.4(FBN2):c.4324G>T (p.Gly1442Cys)
NM_001999.4(FBN2):c.4325G>T (p.Gly1442Val) rs1581220577
NM_001999.4(FBN2):c.4357T>C (p.Cys1453Arg) rs2126886879
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4375C>G (p.Leu1459Val) rs863223573
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.4472A>T (p.Asp1491Val) rs2126854670
NM_001999.4(FBN2):c.4474A>T (p.Ile1492Phe) rs775167440
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr) rs863223608
NM_001999.4(FBN2):c.455G>A (p.Arg152Lys) rs754613587
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4589G>T (p.Cys1530Phe)
NM_001999.4(FBN2):c.4615C>G (p.Pro1539Ala) rs761783629
NM_001999.4(FBN2):c.4646A>G (p.Asn1549Ser) rs863223575
NM_001999.4(FBN2):c.4658G>A (p.Arg1553His)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4729G>T (p.Gly1577Cys)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4757GAG[1] (p.Gly1587del) rs2126847728
NM_001999.4(FBN2):c.4810T>C (p.Ser1604Pro) rs2126847651
NM_001999.4(FBN2):c.4831G>A (p.Gly1611Arg) rs2126847628
NM_001999.4(FBN2):c.4831G>T (p.Gly1611Ter) rs2126847628
NM_001999.4(FBN2):c.4858_4861del (p.Thr1620fs)
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4949-3T>A rs863223576
NM_001999.4(FBN2):c.5032C>G (p.Pro1678Ala)
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5124C>G (p.Cys1708Trp)
NM_001999.4(FBN2):c.5147C>G (p.Thr1716Ser) rs2126843757
NM_001999.4(FBN2):c.5275A>G (p.Lys1759Glu) rs201113098
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.529C>T (p.Gln177Ter)
NM_001999.4(FBN2):c.5374_5376delinsTTTAAAGTG (p.Gly1792delinsPheLysVal)
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met) rs756365546
NM_001999.4(FBN2):c.5528A>G (p.Asp1843Gly) rs2126839169
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5600G>A (p.Cys1867Tyr) rs2126838836
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg) rs1554119710
NM_001999.4(FBN2):c.581A>C (p.Asn194Thr)
NM_001999.4(FBN2):c.5824C>G (p.Pro1942Ala) rs761603109
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5896A>G (p.Thr1966Ala) rs863223579
NM_001999.4(FBN2):c.5950G>A (p.Val1984Met) rs1064796333
NM_001999.4(FBN2):c.5976T>A (p.Asn1992Lys) rs1749717202
NM_001999.4(FBN2):c.6033del (p.Asn2013fs) rs2126834363
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6209G>T (p.Gly2070Val) rs1749324727
NM_001999.4(FBN2):c.6221A>G (p.Asn2074Ser) rs2126822099
NM_001999.4(FBN2):c.6244_6246del (p.Leu2082del) rs2126822071
NM_001999.4(FBN2):c.631T>G (p.Tyr211Asp) rs1554071528
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.644C>T (p.Pro215Leu) rs2127084495
NM_001999.4(FBN2):c.6497A>G (p.His2166Arg) rs1388581442
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6526C>T (p.Leu2176Phe)
NM_001999.4(FBN2):c.6546T>G (p.Cys2182Trp) rs1554118137
NM_001999.4(FBN2):c.6556C>T (p.Gln2186Ter) rs1415043313
NM_001999.4(FBN2):c.6623G>C (p.Gly2208Ala) rs200489152
NM_001999.4(FBN2):c.6645T>A (p.Asp2215Glu) rs2126818736
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6689A>G (p.Asn2230Ser) rs863223584
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>A (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6757+1G>A
NM_001999.4(FBN2):c.6757+3A>G rs1057523248
NM_001999.4(FBN2):c.6760A>T (p.Ile2254Phe)
NM_001999.4(FBN2):c.67G>A (p.Ala23Thr)
NM_001999.4(FBN2):c.6869A>G (p.Lys2290Arg) rs2126817399
NM_001999.4(FBN2):c.6894T>A (p.Cys2298Ter)
NM_001999.4(FBN2):c.6948C>G (p.Ile2316Met) rs17608368
NM_001999.4(FBN2):c.6955T>C (p.Phe2319Leu) rs863223585
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter) rs1461140915
NM_001999.4(FBN2):c.7184_7185delinsTC (p.Cys2395Phe)
NM_001999.4(FBN2):c.7199_7200delinsCC (p.Ser2400Thr) rs2126809625
NM_001999.4(FBN2):c.71A>G (p.Gln24Arg) rs764396688
NM_001999.4(FBN2):c.7205G>T (p.Arg2402Leu) rs148014419
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.734G>C (p.Arg245Pro) rs747507457
NM_001999.4(FBN2):c.7369C>T (p.Pro2457Ser) rs863223587
NM_001999.4(FBN2):c.7445C>T (p.Thr2482Ile) rs2126808771
NM_001999.4(FBN2):c.7448A>T (p.Asp2483Val)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7546T>C (p.Ser2516Pro) rs2126807303
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu) rs766586054
NM_001999.4(FBN2):c.7562A>G (p.Tyr2521Cys) rs2126807281
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val) rs863223588
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7957G>A (p.Val2653Ile)
NM_001999.4(FBN2):c.8041C>T (p.Pro2681Ser)
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8117G>T (p.Cys2706Phe) rs1010740898
NM_001999.4(FBN2):c.811A>G (p.Thr271Ala) rs201988564
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.832G>C (p.Asp278His) rs2127056965
NM_001999.4(FBN2):c.8364+2T>C rs2126793713
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8482C>T (p.Leu2828Phe) rs2126791897
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8520C>G (p.Asn2840Lys) rs139098335
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro) rs863223614
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter) rs876661196
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.920A>G (p.His307Arg) rs1754067808

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.