ClinVar Miner

Variants in gene ATP8B1 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
114 9 0 7 11 0 2 17

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 1 0 1
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 10 3
likely benign 0 0 10 0 6
benign 1 0 3 6 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_005603.6(ATP8B1):c.1014C>T (p.Asn338=) rs145750280
NM_005603.6(ATP8B1):c.114T>G (p.Ser38=) rs141463153
NM_005603.6(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917
NM_005603.6(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205
NM_005603.6(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962
NM_005603.6(ATP8B1):c.150A>G (p.Glu50=) rs137973298
NM_005603.6(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429
NM_005603.6(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153
NM_005603.6(ATP8B1):c.182-12dup rs34583775
NM_005603.6(ATP8B1):c.189A>G (p.Thr63=) rs35377845
NM_005603.6(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005603.6(ATP8B1):c.246A>G (p.Thr82=) rs34623939
NM_005603.6(ATP8B1):c.433C>T (p.Leu145=) rs140634215
NM_005603.6(ATP8B1):c.903G>A (p.Arg301=) rs762363452
NM_005603.6(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808
NM_005603.6(ATP8B1):c.923G>T (p.Gly308Val) rs111033609

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.