ClinVar Miner

Variants in gene ATP13A2 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
335 26 0 11 13 0 0 23

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 9 6
likely benign 0 0 9 0 10
benign 0 0 6 10 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_022089.4(ATP13A2):c.*120A>T rs41273151
NM_022089.4(ATP13A2):c.106-8G>A rs200587951
NM_022089.4(ATP13A2):c.1080G>C (p.Gly360=) rs55943100
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=) rs372993383
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.4(ATP13A2):c.841-4A>G rs112549590
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179

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