ClinVar Miner

Variants in gene PIGN 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
122 24 0 9 1 0 4 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 1 0 0
likely pathogenic 3 0 3 0 0
uncertain significance 1 3 0 1 0
likely benign 0 0 1 0 6
benign 0 0 0 6 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_176787.4(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.4(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.4(PIGN):c.2238A>G (p.Ile746Met) rs200658159
NM_176787.4(PIGN):c.2577-5dup rs138671843
NM_176787.4(PIGN):c.2620-5delT rs11437076
NM_176787.4(PIGN):c.2679C>G (p.Ser893Arg) rs199573774
NM_176787.4(PIGN):c.2751G>T (p.Thr917=) rs200481058
NM_176787.4(PIGN):c.2783G>A (p.Ser928Asn) rs201397391
NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.4(PIGN):c.528G>A (p.Thr176=) rs144304758
NM_176787.4(PIGN):c.548_549+6delAGGTTTGT rs779636222
NM_176787.4(PIGN):c.562C>T (p.His188Tyr) rs773629540
NM_176787.4(PIGN):c.932T>G (p.Leu311Trp) rs746882521
NM_176787.4(PIGN):c.996T>G (p.Ile332Met) rs1060499763

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