ClinVar Miner

Variants in gene COL9A1 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 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
141 49 0 19 2 0 3 24

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 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 1 1
likely benign 0 0 1 0 18
benign 0 0 1 18 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_001851.5(COL9A1):c.1066-3T>C rs16868869
NM_001851.5(COL9A1):c.1071T>C (p.Arg357=) rs607156
NM_001851.5(COL9A1):c.1197+11T>C rs73745357
NM_001851.5(COL9A1):c.1230+12T>C rs6935778
NM_001851.5(COL9A1):c.1288-4T>A rs142431834
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.138G>A (p.Lys46=) rs139361722
NM_001851.5(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481
NM_001851.5(COL9A1):c.1504-14T>A rs537940
NM_001851.5(COL9A1):c.1569T>A (p.Gly523=) rs150970524
NM_001851.5(COL9A1):c.1656T>C (p.Pro552=) rs80251646
NM_001851.5(COL9A1):c.1666-32G>A rs72923190
NM_001851.5(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.5(COL9A1):c.2271G>A (p.Pro757=) rs2072650
NM_001851.5(COL9A1):c.2299A>G (p.Met767Val) rs6910140
NM_001851.5(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578
NM_001851.5(COL9A1):c.2562T>C (p.Pro854=) rs1135057
NM_001851.5(COL9A1):c.344C>T (p.Thr115Met) rs200018557
NM_001851.5(COL9A1):c.876+13C>T rs117215769
NM_001851.5(COL9A1):c.876+1G>C rs202232444
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001851.5(COL9A1):c.876+2dup rs672601329
NM_001851.5(COL9A1):c.89-12T>C rs12210123
NM_001851.5(COL9A1):c.904G>A (p.Gly302Ser) rs151129325

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.