ClinVar Miner

Variants in gene COL11A1 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
217 102 0 18 20 1 0 39

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 risk factor
pathogenic 0 2 0 0 0 0
likely pathogenic 2 0 0 0 0 0
uncertain significance 0 0 0 18 2 0
likely benign 0 0 18 0 16 0
benign 0 0 2 16 0 1
risk factor 0 0 0 0 1 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_001854.3(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147
NM_001854.3(COL11A1):c.130G>A (p.Ala44Thr) rs150090939
NM_001854.3(COL11A1):c.1427G>A (p.Arg476His) rs149558726
NM_001854.3(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925
NM_001854.3(COL11A1):c.1792-12_1792-10delATG rs71752747
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.3(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001854.3(COL11A1):c.215C>G (p.Thr72Ser) rs56230601
NM_001854.3(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.3(COL11A1):c.2556+92T>A rs550991929
NM_001854.3(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.3(COL11A1):c.2611-4C>T rs79505593
NM_001854.3(COL11A1):c.2754+5G>A rs1057518666
NM_001854.3(COL11A1):c.2766A>G (p.Gly922=) rs139911745
NM_001854.3(COL11A1):c.2901A>C (p.Gly967=) rs149526015
NM_001854.3(COL11A1):c.2916+3A>G rs200515572
NM_001854.3(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.3(COL11A1):c.3033A>C (p.Pro1011=) rs143606220
NM_001854.3(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.3(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.3(COL11A1):c.3639G>A (p.Gly1213=) rs143651470
NM_001854.3(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855
NM_001854.3(COL11A1):c.3817-14_3817-13dupTT rs34228277
NM_001854.3(COL11A1):c.3979-14A>T rs186245518
NM_001854.3(COL11A1):c.3979-3T>C rs138464908
NM_001854.3(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.3(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006
NM_001854.3(COL11A1):c.4140+10A>T rs187171126
NM_001854.3(COL11A1):c.4140+13T>A rs374901069
NM_001854.3(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197
NM_001854.3(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.3(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.3(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001854.3(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.3(COL11A1):c.4965T>G (p.Ser1655=) rs74778421
NM_001854.3(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.3(COL11A1):c.5273C>T (p.Ala1758Val) rs202065765
NM_001854.3(COL11A1):c.652-6dupT rs36076089
NM_001854.3(COL11A1):c.904A>G (p.Ile302Val) rs75824519

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.