ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 494
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HGVS dbSNP
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.(?_127622400)_(127645101_?)dup
NC_000005.9:g.(?_127685029)_(127686707_?)del
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
NM_001999.4(FBN2):c.1078+5G>A
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545
NM_001999.4(FBN2):c.1107C>T (p.Gly369=) rs1060503505
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser) rs1554066013
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg) rs1060503509
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val) rs753734866
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421
NM_001999.4(FBN2):c.1603+6T>C
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys) rs1561427124
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr) rs1581251809
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg) rs1283833434
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg) rs376737293
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn) rs1230736233
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val) rs1581250994
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg) rs1060503499
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.1954A>C (p.Asn652His)
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
NM_001999.4(FBN2):c.2034G>T (p.Gly678=) rs1357250229
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr) rs141291125
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
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.2083C>T (p.Arg695Cys)
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
NM_001999.4(FBN2):c.2095+2_2095+7del
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419
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.2198C>G (p.Pro733Arg) rs745528502
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser) rs1554064242
NM_001999.4(FBN2):c.2248+4G>A rs752467521
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly) rs1485036763
NM_001999.4(FBN2):c.2303-2A>G
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu) rs889066564
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg) rs886038969
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658
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
NM_001999.4(FBN2):c.2429-1G>A
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys) rs763094104
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser) rs370312107
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.2777C>A (p.Ala926Asp) rs138429045
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser) rs863223559
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg) rs766590294
NM_001999.4(FBN2):c.2863+3G>A rs762144935
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu) rs1025184275
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp) rs1554124089
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr) rs1057519321
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys) rs752905724
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
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)
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile) rs146143173
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser) rs764719151
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val) rs1042256829
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718
NM_001999.4(FBN2):c.3472+3A>G
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp) rs931046977
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) rs375710546
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
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.362A>G (p.Asp121Gly) rs770483769
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser) rs778784375
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile) rs1554122848
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly) rs1561776564
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser) rs747182286
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe) rs763595235
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile) rs1554122803
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile) rs1231103337
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val)
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp) rs750327890
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile)
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=)
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356
NM_001999.4(FBN2):c.4472-2A>G rs1554121102
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala) rs1581212696
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile) rs1554121038
NM_001999.4(FBN2):c.4717+8A>G
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His) rs1060503508
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro) rs1561765113
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val) rs765442038
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=) rs1554120357
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr) rs1554120340
NM_001999.4(FBN2):c.5074+5G>A
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe) rs1554120186
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter) rs1178371653
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser) rs1554120093
NM_001999.4(FBN2):c.5422+6T>G
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
NM_001999.4(FBN2):c.5549-8T>A
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser) rs780989245
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg) rs1060503504
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val) rs779567163
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959
NM_001999.4(FBN2):c.5674+4A>G rs778011355
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp) rs1010422106
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg) rs1581202795
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5800+6A>T
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly) rs1554119542
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del) rs1554119538
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr) rs1060503501
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp) rs1561757902
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu)
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr) rs878854476
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val) rs1202188687
NM_001999.4(FBN2):c.6046+2T>C rs1581200259
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe)
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe) rs878854478
NM_001999.4(FBN2):c.629-3C>G rs376491648
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser) rs1561750168
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.681G>T (p.Gly227=) rs772923075
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala) rs1060503500
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
NM_001999.4(FBN2):c.6880+6G>C rs1271195305
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile) rs780214155
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.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr) rs760494751
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
NM_001999.4(FBN2):c.7012+6C>T rs749376421
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser) rs1581184433
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979
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.7139A>G (p.Asp2380Gly)
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile) rs753865904
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg) rs764998447
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428
NM_001999.4(FBN2):c.7345+3A>G rs776419198
NM_001999.4(FBN2):c.7346-3C>T
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
NM_001999.4(FBN2):c.7471+5C>T
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.74G>A (p.Gly25Asp)
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=) rs1060503502
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg) rs749623269
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val) rs572453085
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser) rs762538141
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=)
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter) rs1554116411
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala) rs1060503512
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr) rs771008563
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu)
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser) rs1182788018
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val) rs1561736199
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+7C>T rs376135657
NM_001999.4(FBN2):c.8193-7C>G rs754837805
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala) rs1158966833
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=)
NM_001999.4(FBN2):c.8365-7C>A
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter) rs1060503503
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val) rs1554115164
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile) rs887275019
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys) rs577855501
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser) rs1554069994
NM_001999.4(FBN2):c.93G>C (p.Gln31His) rs371491169
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
NM_001999.4(FBN2):c.952+3G>T rs1554069982
NM_001999.4(FBN2):c.953-3T>A rs1020574940
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)

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.