ClinVar Miner

Variants in gene PCLO with conflicting interpretations

See also:
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
2579 108 0 25 10 0 0 34

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 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 8 3
likely benign 0 0 8 0 24
benign 0 0 3 24 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.943C>G (p.Pro315Ala) rs61744447 0.00649
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=) rs147497968 0.00623
NM_033026.6(PCLO):c.14766C>T (p.Ala4922=) rs146099474 0.00572
NM_033026.6(PCLO):c.3498G>A (p.Thr1166=) rs141881813 0.00281
NM_033026.6(PCLO):c.5632A>G (p.Ile1878Val) rs150515688 0.00262
NM_033026.6(PCLO):c.962A>G (p.His321Arg) rs139392690 0.00223
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu) rs149879954 0.00221
NM_033026.6(PCLO):c.686C>T (p.Pro229Leu) rs112144434 0.00220
NM_033026.6(PCLO):c.775C>G (p.Gln259Glu) rs10251512 0.00220
NM_033026.6(PCLO):c.11289C>T (p.Leu3763=) rs62461415 0.00215
NM_033026.6(PCLO):c.2066C>T (p.Ala689Val) rs200359990 0.00214
NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr) rs201344475 0.00180
NM_033026.6(PCLO):c.11172G>A (p.Leu3724=) rs201525533 0.00178
NM_033026.6(PCLO):c.12180G>A (p.Ala4060=) rs188588679 0.00173
NM_033026.6(PCLO):c.7740T>C (p.Tyr2580=) rs368873675 0.00172
NM_033026.6(PCLO):c.13840G>A (p.Ala4614Thr) rs117222461 0.00125
NM_033026.6(PCLO):c.5394A>G (p.Gln1798=) rs372909168 0.00075
NM_033026.6(PCLO):c.10668T>A (p.Pro3556=) rs144871999 0.00066
NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu) rs201409874 0.00052
NM_033026.6(PCLO):c.14397C>G (p.Ser4799=) rs370303452 0.00048
NM_033026.6(PCLO):c.248+8C>A rs377422284 0.00045
NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu) rs200789291 0.00012
NM_033026.6(PCLO):c.5565T>C (p.Ser1855=) rs377317961 0.00009
NM_033026.6(PCLO):c.7868T>G (p.Val2623Gly) rs776949129 0.00007
NM_033026.6(PCLO):c.8662G>A (p.Val2888Ile) rs529385259 0.00006
NM_033026.6(PCLO):c.929C>G (p.Thr310Ser) rs377435737 0.00006
NM_033026.6(PCLO):c.6487A>T (p.Ile2163Phe) rs570812444 0.00002
NM_033026.6(PCLO):c.13528+8A>G rs560413459 0.00001
NM_033026.6(PCLO):c.15289-5dup rs779490171
NM_033026.6(PCLO):c.1839_1840delinsAA (p.Cys613_Gln614delinsTer)
NM_033026.6(PCLO):c.5364G>A (p.Glu1788=)
NM_033026.6(PCLO):c.586G>T (p.Val196Phe) rs143264629
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser) rs201432429
NM_033026.6(PCLO):c.9519T>C (p.Leu3173=) rs117636778

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.