ClinVar Miner

Variants in gene ITGB2 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
146 17 0 12 6 0 2 18

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 2 2
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 3 3
likely benign 2 0 3 0 11
benign 2 0 3 11 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=) rs61737081
NM_000211.5(ITGB2):c.1026G>C (p.Val342=) rs142185460
NM_000211.5(ITGB2):c.117G>A (p.Ser39=) rs35903905
NM_000211.5(ITGB2):c.1413-8G>A rs375743879
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531
NM_000211.5(ITGB2):c.1893C>T (p.Cys631=) rs17004713
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330
NM_000211.5(ITGB2):c.31C>T (p.Leu11=) rs5030667
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812
NM_000211.5(ITGB2):c.499+7C>T rs17004715
NM_000211.5(ITGB2):c.742-13G>A rs5030670
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618
NM_000211.5(ITGB2):c.906A>G (p.Pro302=) rs35370671

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