ClinVar Miner

Variants in gene PHEX 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
408 39 0 10 3 1 8 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 drug response protective other
pathogenic 0 7 5 1 1 1 1 1
likely pathogenic 6 0 4 0 0 0 0 0
uncertain significance 4 4 0 3 1 0 0 0
likely benign 0 0 3 0 3 0 0 0
benign 0 0 1 3 0 0 0 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.503C>T (p.Pro168Leu) rs1057517790
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818
Single allele

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.