Variants in gene DUOX2 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:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
117	11	0	9	3	0	2	14

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	3	0	0	0
likely pathogenic	3	0	2	0	0
uncertain significance	0	2	0	2	1
likely benign	0	0	2	0	6
benign	0	0	1	6	0

All variants with conflicting interpretations #

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP
NM_014080.4(DUOX2):c.1462G>A (p.Gly488Arg)	rs191759494
NM_014080.4(DUOX2):c.1921G>A (p.Glu641Lys)	rs139161034
NM_014080.4(DUOX2):c.2033A>G (p.His678Arg)	rs57659670
NM_014080.4(DUOX2):c.2102G>A (p.Arg701Gln)	rs113400262
NM_014080.4(DUOX2):c.2148+9C>T	rs73406337
NM_014080.4(DUOX2):c.2286G>A (p.Gln762=)	rs73406334
NM_014080.4(DUOX2):c.2334+10C>T	rs73406330
NM_014080.4(DUOX2):c.2335-3C>T	rs369394906
NM_014080.4(DUOX2):c.2653C>T (p.Arg885Ter)	rs199589510
NM_014080.4(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_014080.4(DUOX2):c.3966C>T (p.Ser1322=)	rs61730032
NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala)	rs771198569
NM_014080.4(DUOX2):c.4479C>G (p.Pro1493=)	rs56323146
NM_014080.4(DUOX2):c.602dup (p.Gln202fs)	rs567500345

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