ClinVar Miner

Variants in gene PEX1 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 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
146 53 0 18 9 0 2 29

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 10 1 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 1 1 0 5 4
likely benign 0 0 5 0 8
benign 0 0 4 8 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.2(PEX1):c.2584-11_2584-10delTT rs5885806
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142

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