ClinVar Miner

List of variants reported as likely benign for Weill-Marchesani syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.*1228T>C rs372333234
NM_000138.4(FBN1):c.*1245C>T rs181099623
NM_000138.4(FBN1):c.*1252A>G rs566419089
NM_000138.4(FBN1):c.*1298C>G rs143446014
NM_000138.4(FBN1):c.*1325T>C rs569152308
NM_000138.4(FBN1):c.*1437G>A rs549498511
NM_000138.4(FBN1):c.*1484C>T rs533502309
NM_000138.4(FBN1):c.*1580G>A rs17352989
NM_000138.4(FBN1):c.*1619T>A rs374297351
NM_000138.4(FBN1):c.*1720C>T rs557301792
NM_000138.4(FBN1):c.*1949T>C rs534577080
NM_000138.4(FBN1):c.*1950dupT rs535798341
NM_000138.4(FBN1):c.*1989C>T rs56194244
NM_000138.4(FBN1):c.*2024A>G rs558488257
NM_000138.4(FBN1):c.*2153A>G rs116443051
NM_000138.4(FBN1):c.*2360C>G rs144404153
NM_000138.4(FBN1):c.*2395G>A rs184719603
NM_000138.4(FBN1):c.*2398G>T rs377530465
NM_000138.4(FBN1):c.*2524A>G rs75372203
NM_000138.4(FBN1):c.*2674T>A rs142196699
NM_000138.4(FBN1):c.*57A>G rs363849
NM_000138.4(FBN1):c.*764G>A rs55717426
NM_000138.4(FBN1):c.*867G>T rs189749406
NM_000138.4(FBN1):c.*960delG rs527621676
NM_000138.4(FBN1):c.*967C>T rs56024388
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.2979C>T (p.Cys993=) rs150126098
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3171C>T (p.Ser1057=) rs144400069
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3570C>T (p.Pro1190=) rs188317014
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met) rs774851476
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) rs779913610
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.4(FBN1):c.8227-3C>T rs200822151
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8310C>T (p.His2770=) rs112189340
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.885T>G (p.Ile295Met) rs151056963
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000428.2(LTBP2):c.*1818C>T rs1052939
NM_000428.2(LTBP2):c.*1957A>G rs73296215
NM_000428.2(LTBP2):c.*824C>T rs7569
NM_000428.2(LTBP2):c.-232G>A rs61980926
NM_000428.2(LTBP2):c.1287G>A (p.Leu429=) rs61738025
NM_000428.2(LTBP2):c.2406T>C (p.Thr802=) rs699374
NM_000428.2(LTBP2):c.2788+13C>T rs78258030
NM_000428.2(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039
NM_000428.2(LTBP2):c.956C>A (p.Pro319Gln) rs2304707
NM_030957.3(ADAMTS10):c.*238dupC rs151216219
NM_030957.3(ADAMTS10):c.*428A>G rs116024095
NM_030957.3(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496
NM_030957.3(ADAMTS10):c.1588-7C>G rs11882422
NM_030957.3(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676
NM_030957.3(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197
NM_030957.3(ADAMTS10):c.1900+11G>C rs78421590
NM_030957.3(ADAMTS10):c.1901-11G>A rs117220199
NM_030957.3(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313
NM_030957.3(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929
NM_030957.3(ADAMTS10):c.3043-12_3043-6dupGCCCCCT rs138501563
NM_030957.3(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956
NM_030957.3(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291
NM_139057.3(ADAMTS17):c.*116T>C rs143850369
NM_139057.3(ADAMTS17):c.*1419G>A rs75143725
NM_139057.3(ADAMTS17):c.*1706G>A rs117744474
NM_139057.3(ADAMTS17):c.*1729G>A rs58739070
NM_139057.3(ADAMTS17):c.*172_*174delGTT rs137961566
NM_139057.3(ADAMTS17):c.*1773G>T rs74037057
NM_139057.3(ADAMTS17):c.*1774C>T rs74037056
NM_139057.3(ADAMTS17):c.*1944G>A rs116429760
NM_139057.3(ADAMTS17):c.*1946G>T rs77749500
NM_139057.3(ADAMTS17):c.*2007G>A rs8041901
NM_139057.3(ADAMTS17):c.*2012C>T rs190592619
NM_139057.3(ADAMTS17):c.*2079C>T rs75041141
NM_139057.3(ADAMTS17):c.*2159_*2160delAG rs144918924
NM_139057.3(ADAMTS17):c.*2183G>A rs148789222
NM_139057.3(ADAMTS17):c.*2227G>A rs8041553
NM_139057.3(ADAMTS17):c.*2324G>A rs8041395
NM_139057.3(ADAMTS17):c.*2352C>G rs138578029
NM_139057.3(ADAMTS17):c.*2354C>T rs8036076
NM_139057.3(ADAMTS17):c.*2578G>A rs183671964
NM_139057.3(ADAMTS17):c.*2722G>A rs116467016
NM_139057.3(ADAMTS17):c.*425C>A rs574877864
NM_139057.3(ADAMTS17):c.*486G>A rs117381111
NM_139057.3(ADAMTS17):c.*692G>C rs187035332
NM_139057.3(ADAMTS17):c.*700G>A rs60022871
NM_139057.3(ADAMTS17):c.*882G>T rs2581358
NM_139057.3(ADAMTS17):c.*989G>A rs57279107
NM_139057.3(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.3(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.3(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.3(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.3(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885

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.