ClinVar Miner

Variants in gene combination CACNB2, NSUN6 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
222 26 0 8 6 0 1 13

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 5 3
likely benign 0 5 0 8
benign 0 3 8 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116
NM_201596.3(CACNB2):c.1140T>C (p.His380=) rs151199943
NM_201596.3(CACNB2):c.1303-4G>A rs765944934
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966
NM_201596.3(CACNB2):c.805-4G>A rs200654601
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418

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.