ClinVar Miner

Variants in gene POGZ 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
212 16 0 12 0 1 2 14

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 association
pathogenic 0 1 1 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 2 1 0 0 0 1
likely benign 0 0 0 0 11 0
benign 0 0 0 11 0 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381
NM_015100.4(POGZ):c.2634C>G (p.Ser878=) rs138843201
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015100.4(POGZ):c.2913G>A (p.Glu971=) rs113903415
NM_015100.4(POGZ):c.3237C>T (p.His1079=) rs149003420
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=) rs1571294
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646
Single allele

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