ClinVar Miner

Variants in gene ATP6V0A2 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 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
253 18 4 7 7 0 0 16

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

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.