ClinVar Miner

Variants in gene MAN1B1 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
169 30 0 16 14 0 2 28

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 1 1 0
uncertain significance 0 1 0 13 6
likely benign 0 1 13 0 15
benign 0 0 6 15 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup) rs538804415
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367

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.