ClinVar Miner

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

Included ClinVar conditions (8):
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Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_000138.4(FBN1):c.*1298C>G rs143446014
NM_000138.4(FBN1):c.*1437G>A rs549498511
NM_000138.4(FBN1):c.*1950dup rs535798341
NM_000138.4(FBN1):c.*2360C>G rs144404153
NM_000138.4(FBN1):c.*960del rs527621676
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1821T>C (p.Asp607=) rs149133920
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2950G>A (p.Val984Ile) rs747713929
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.3171C>T (p.Ser1057=) rs144400069
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3570C>T (p.Pro1190=) rs188317014
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) rs779913610
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016
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.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8227-3C>T rs200822151
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.885T>G (p.Ile295Met) rs151056963
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.5(FBN1):c.247+10T>C rs367618012
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.5(FBN1):c.5788+10C>A rs371560107
NM_000138.5(FBN1):c.6314-15G>A rs200841830
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000428.3(LTBP2):c.*119C>T
NM_000428.3(LTBP2):c.*1427A>G
NM_000428.3(LTBP2):c.*2363A>G
NM_000428.3(LTBP2):c.*2684A>G
NM_000428.3(LTBP2):c.*945T>C
NM_000428.3(LTBP2):c.1399+10G>T rs143528294
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312
NM_000428.3(LTBP2):c.3527-3C>A rs138194436
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.*171G>A
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_030957.4(ADAMTS10):c.-198A>G
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798
NM_030957.4(ADAMTS10):c.1588-11C>T
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313
NM_139057.4(ADAMTS17):c.*1234G>A
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500
NM_139057.4(ADAMTS17):c.*19G>A
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G
NM_139057.4(ADAMTS17):c.*2747T>G
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*474C>T
NM_139057.4(ADAMTS17):c.*880C>T
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*959C>T
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.-9C>T rs192272127
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994
NM_139057.4(ADAMTS17):c.3128-6C>T

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