ClinVar Miner

Variants with conflicting interpretations studied for Weill-Marchesani syndrome

Coded as:
Minimum review status of the submission for Weill-Marchesani syndrome: Y axis collection method of the submission for Weill-Marchesani syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
37 180 1 51 44 0 2 88

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.

All conditions
Weill-Marchesani syndrome pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 1 1 16 10
likely benign 1 0 18 0 51

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not provided 0 16 0 41 28 0 0 68
not specified 0 23 0 34 13 0 0 46
Thoracic aortic aneurysm and aortic dissection 0 134 0 22 7 0 0 28
Cardiovascular phenotype 0 20 0 14 6 0 0 20
Marfan syndrome 0 143 0 10 11 0 0 19
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 6 0 0 5 0 0 5
Connective tissue disorder 0 6 0 0 1 0 0 1
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
MASS syndrome 0 161 0 0 0 0 1 1
Marfanoid habitus 0 0 0 0 1 0 0 1
Primary open angle glaucoma 0 0 0 0 0 0 1 1
Pseudoexfoliation glaucoma 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.-176A>T rs560004254
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.1602T>C (p.Cys534=) rs377386372
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.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.3337+11G>A rs368726848
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.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.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.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
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.6801C>T (p.Asn2267=) rs886051245
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.7056C>T (p.Ser2352=) rs149697299
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.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
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.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298
NM_000428.3(LTBP2):c.2788+13C>T rs78258030
NM_000428.3(LTBP2):c.2789-9T>C rs368269193
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143
NM_000428.3(LTBP2):c.3527-14T>C rs137854886
NM_000428.3(LTBP2):c.3527-3C>A rs138194436
NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) rs137854862
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496
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.4516G>A (p.Val1506Met) rs117800773
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909
NM_000428.3(LTBP2):c.4821G>A (p.Thr1607=) rs139030976
NM_000428.3(LTBP2):c.800C>T (p.Ser267Leu) rs149952751
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192

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