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 per condition Variants with at least 2 submissions on the same condition 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 conflict
369 36 0 11 0 0 5 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
pathogenic 0 7 2 0 0
likely pathogenic 7 0 5 0 0
uncertain significance 2 5 0 0 0
likely benign 0 0 0 0 4
benign 0 0 0 4 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
NM_176787.5(PIGN):c.1434+5G>A rs369486176
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.2284-1G>C rs760977825
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.548_549+6del rs779636222
NM_176787.5(PIGN):c.562C>T (p.His188Tyr) rs773629540
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763

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