ClinVar Miner

Variants in gene BCOR 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 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
132 12 0 9 7 1 1 15

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 other
pathogenic 0 0 0 0 0 1
likely pathogenic 0 0 1 1 1 0
uncertain significance 0 1 0 5 4 0
likely benign 0 1 5 0 9 0
benign 0 1 4 9 0 0
other 1 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001123383.1(BCOR):c.3781_3782delAG (p.Leu1262Phefs) rs886042842
NM_017745.5(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_017745.5(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_017745.5(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_017745.5(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017745.5(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_017745.5(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_017745.5(BCOR):c.2514C>A (p.Pro838=) rs147497014
NM_017745.5(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_017745.5(BCOR):c.3413T>C (p.Val1138Ala) rs145327925
NM_017745.5(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_017745.5(BCOR):c.4578G>A (p.Thr1526=) rs146007249
NM_017745.5(BCOR):c.4875-4G>T rs5963725
NM_017745.5(BCOR):c.711C>T (p.Val237=) rs727503827

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