ClinVar Miner

Variants in gene LTBP2 with conflicting interpretations

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:
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 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
1176 64 0 32 14 0 3 46

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 1 0 0 0
likely pathogenic 1 0 3 1 1
uncertain significance 0 3 0 13 3
likely benign 0 1 13 0 31
benign 0 1 3 31 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_000428.3(LTBP2):c.3278-16C>T rs117613718 0.01302
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_000428.3(LTBP2):c.1790-17G>A rs147282006 0.00890
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.4201A>G (p.Thr1401Ala) rs140848390 0.00497
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000428.3(LTBP2):c.3527-14T>C rs137854886 0.00233
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047 0.00137
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val) rs139481866 0.00131
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000428.3(LTBP2):c.1797G>A (p.Pro599=) rs144293300 0.00073
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His) rs143010135 0.00022
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_000428.3(LTBP2):c.2667C>T (p.Asn889=) rs546041607 0.00013
NM_000428.3(LTBP2):c.3373C>T (p.Arg1125Trp) rs201501300 0.00013
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_000428.3(LTBP2):c.1686+8C>G rs563097395 0.00009
NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) rs137854864 0.00006
NM_000428.3(LTBP2):c.2119A>C (p.Ser707Arg) rs145201197 0.00004
NM_000428.3(LTBP2):c.3883A>G (p.Met1295Val) rs776746432 0.00004
NM_000428.3(LTBP2):c.3468C>T (p.Gly1156=) rs370447827 0.00002
NM_000428.3(LTBP2):c.3354G>A (p.Lys1118=) rs1211195117 0.00001
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000428.3(LTBP2):c.2628C>G (p.Tyr876Ter) rs1566622093
NM_000428.3(LTBP2):c.3652+1G>C rs773910322
NM_000428.3(LTBP2):c.4978G>T (p.Gly1660Trp) rs147223742
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575

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