ClinVar Miner

Variants in gene PMP22 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
214 25 7 8 9 1 11 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 likely benign benign drug response protective other
pathogenic 7 6 7 2 1 1 1 1
likely pathogenic 5 0 6 0 0 0 0 0
uncertain significance 6 6 0 8 2 0 0 0
likely benign 1 0 8 0 2 0 0 0
benign 0 0 2 2 0 0 0 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.4(PMP22):c.177C>T (p.Asn59=) rs376797385
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.448G>C (p.Gly150Arg) rs104894624
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
PMP22, 1.4-MB DUP
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.