ClinVar Miner

Variants in gene combination ATP8B1, LOC100505549 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
96 7 0 8 6 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 6 0
likely benign 6 0 8
benign 0 8 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_005603.6(ATP8B1):c.2209+9T>C rs377124910
NM_005603.6(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689
NM_005603.6(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300
NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) rs199716374
NM_005603.6(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014
NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116
NM_005603.6(ATP8B1):c.2928G>A (p.Ala976=) rs201803908
NM_005603.6(ATP8B1):c.2931+14G>A rs34451179
NM_005603.6(ATP8B1):c.2988C>T (p.Pro996=) rs776385207
NM_005603.6(ATP8B1):c.3016-9C>A rs34729241
NM_005603.6(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648
NM_005603.6(ATP8B1):c.3531+8G>T rs34027711
NM_005603.6(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569
NM_005603.6(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771

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.