ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NM_001999.4(FBN2):c.*1009A>G
NM_001999.4(FBN2):c.*100A>C rs886059890
NM_001999.4(FBN2):c.*1050_*1052GTT[6] rs886059885
NM_001999.4(FBN2):c.*1102G>A
NM_001999.4(FBN2):c.*1111C>A rs886059884
NM_001999.4(FBN2):c.*1111C>T rs886059884
NM_001999.4(FBN2):c.*1118T>C rs776542113
NM_001999.4(FBN2):c.*1239A>G rs765057642
NM_001999.4(FBN2):c.*1315C>G rs886059883
NM_001999.4(FBN2):c.*1420A>C rs886059882
NM_001999.4(FBN2):c.*1420_*1421dup rs143731656
NM_001999.4(FBN2):c.*1507A>G
NM_001999.4(FBN2):c.*244T>C rs886059889
NM_001999.4(FBN2):c.*284C>T rs886059888
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*557C>T rs886059887
NM_001999.4(FBN2):c.*642A>G
NM_001999.4(FBN2):c.*671G>A rs886059886
NM_001999.4(FBN2):c.*686C>T
NM_001999.4(FBN2):c.*716A>G
NM_001999.4(FBN2):c.*745C>G rs754492977
NM_001999.4(FBN2):c.*879C>T
NM_001999.4(FBN2):c.-173G>A
NM_001999.4(FBN2):c.-173G>C
NM_001999.4(FBN2):c.-190C>G
NM_001999.4(FBN2):c.-219C>G rs886059905
NM_001999.4(FBN2):c.-338G>A rs776638871
NM_001999.4(FBN2):c.-430A>C
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
NM_001999.4(FBN2):c.1078+12A>C rs769211487
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val) rs769947673
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val)
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.2990-14C>T rs377500777
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
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.3218-13A>T
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu) rs886059901
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=)
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala) rs202072752
NM_001999.4(FBN2):c.3724+11A>G rs886059900
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu)
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr)
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=)
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser)
NM_001999.4(FBN2):c.4472-11A>T rs528062851
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=) rs886059899
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala)
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser) rs886059898
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu) rs886059897
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs) rs1561760194
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=)
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu)
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=) rs886059895
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly)
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798
NM_001999.4(FBN2):c.6758-11C>T
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
NM_001999.4(FBN2):c.6880+8C>T
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn) rs886059893
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu) rs886059903
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser) rs886059892
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg)
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=)
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg)
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys) rs546129957
NM_001999.4(FBN2):c.8365-13G>A rs779409691
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met)
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=) rs542824837
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg)
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr)

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