ClinVar Miner

Variants in gene PANK2 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
149 13 0 7 8 0 2 15

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 7 2
likely benign 0 0 7 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001324193.2(PANK2):c.-239G>C rs754521581
NM_001324193.2(PANK2):c.-59_-58dup rs1555788619
NM_024960.6(PANK2):c.540-1G>T rs148987163
NM_153638.3(PANK2):c.1074A>C (p.Ser358=) rs778370524
NM_153638.3(PANK2):c.12C>T (p.Leu4=) rs774784800
NM_153638.3(PANK2):c.137A>T (p.Asp46Val) rs148036492
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153638.3(PANK2):c.280C>G (p.Arg94Gly) rs199680057
NM_153638.3(PANK2):c.348G>A (p.Gly116=) rs750766653
NM_153638.3(PANK2):c.380G>T (p.Gly127Val) rs528149001
NM_153638.3(PANK2):c.519C>G (p.Pro173=) rs71647829
NM_153638.3(PANK2):c.585G>T (p.Ser195=) rs375741383
NM_153638.3(PANK2):c.588C>G (p.Val196=) rs746054643
NM_153638.3(PANK2):c.819G>A (p.Leu273=) rs71647837
NM_153638.4(PANK2):c.1213T>G (p.Tyr405Asp)

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