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 Variants with at least 2 submissions 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 kind of conflict
122 34 7 6 7 0 17 33

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 7 4 13 1 0
likely pathogenic 4 0 5 1 0
uncertain significance 13 5 0 6 1
likely benign 1 1 6 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
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.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
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.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) rs1567704621
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg) rs775019409
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.449G>A (p.Gly150Asp) rs879253954
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

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