ClinVar Miner

Variants in gene PIGO 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
153 24 0 8 10 0 2 16

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 2 0 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 0 2 0 10 4
likely benign 0 0 10 0 6
benign 0 0 4 6 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_032634.3(PIGO):c.1120-15C>A rs77344591
NM_032634.3(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_032634.3(PIGO):c.1810dupC (p.Arg604Profs) rs774508288
NM_032634.3(PIGO):c.2040G>C (p.Leu680=) rs41274877
NM_032634.3(PIGO):c.2166G>C (p.Ala722=) rs147101825
NM_032634.3(PIGO):c.2169G>A (p.Ser723=) rs780502790
NM_032634.3(PIGO):c.2268G>A (p.Ala756=) rs149171782
NM_032634.3(PIGO):c.2361dupC rs770591449
NM_032634.3(PIGO):c.3070-12C>G rs199864376
NM_032634.3(PIGO):c.3118G>A (p.Val1040Ile) rs149439295
NM_032634.3(PIGO):c.364C>T (p.Arg122Ter) rs375682284
NM_032634.3(PIGO):c.423C>T (p.Gly141=) rs116248521
NM_032634.3(PIGO):c.461C>A (p.Ala154Asp) rs142562923
NM_032634.3(PIGO):c.469G>A (p.Ala157Thr) rs542399310
NM_032634.3(PIGO):c.626A>G (p.Asn209Ser) rs138028827
NM_032634.3(PIGO):c.714C>T (p.Gly238=) rs148186264

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.