ClinVar Miner

Variants in gene FBN2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
3519 260 0 107 111 0 9 211

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 2 0 0
likely pathogenic 4 0 5 2 0
uncertain significance 2 5 0 100 19
likely benign 0 2 100 0 103
benign 0 0 19 103 0

All variants with conflicting interpretations #

Total variants: 211
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.13775
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10362
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03159
NM_001999.4(FBN2):c.6637+39A>G rs17608435 0.02889
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02228
NM_001999.4(FBN2):c.2813-37C>A rs28763947 0.02197
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00829
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00741
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00665
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00584
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00579
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00413
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00403
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00341
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00322
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00270
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00204
NM_001999.4(FBN2):c.-17C>G rs372089451 0.00199
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00196
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00171
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00158
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00151
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00149
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00129
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00118
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00098
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00090
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00048
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00046
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00044
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00040
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00038
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00030
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00015
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00011
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.8192+8G>A rs184132548 0.00011
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 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.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00008
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00008
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00007
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00007
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 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.5800+5G>A rs375487064 0.00005
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00005
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 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.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00003
NM_001999.4(FBN2):c.532C>T (p.Pro178Ser) rs765177174 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00002
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser) rs555682061 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00002
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00002
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00002
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443 0.00001
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214 0.00001
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.629-6T>C rs757696693 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser) rs565953623 0.00001
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
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.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3973+5G>A
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr) rs2479786545
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-18T>A rs200285828
NM_001999.4(FBN2):c.4594+3A>G rs2126854509
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys) rs1554119321
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter) rs1287289593
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.784C>T (p.Arg262Ter)
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572

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