ClinVar Miner

Variants in gene combination PHEX, PTCHD1 with conflicting interpretations

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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
359 41 0 15 3 0 10 27

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 benign
pathogenic 0 15 2 3
likely pathogenic 15 0 4 1
uncertain significance 2 4 0 3
benign 3 1 3 0

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu) rs1064794306
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) rs760870713
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) rs1064795106
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) rs1057517795
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) rs1057517795
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1900-1G>A rs755406730
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.1966-1G>C rs1064795147
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
NM_000444.6(PHEX):c.2070+1G>A rs1057518596
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) rs1064796540
NM_000444.6(PHEX):c.2138dup (p.Gln714fs) rs886041375
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) rs1556205980
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227

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