ClinVar Miner

Variants in gene BBS4 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
88 5 4 7 3 1 3 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.

pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 3 1 1 0 0 0
likely pathogenic 2 0 1 2 1 1
uncertain significance 1 0 0 2 2 0
likely benign 0 1 2 1 5 0
benign 0 0 2 5 0 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1106+2T>A rs886041464
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1451-45T>C rs75847960
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.24+8C>T rs200055760
NM_033028.5(BBS4):c.712-1G>A rs377031435
NM_033028.5(BBS4):c.77-216del rs113994189
Single allele rs1555502637

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.