ClinVar Miner

Variants in gene COL11A2 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
195 92 0 35 25 0 2 58

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 3 2 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 2 1 0 25 3
likely benign 0 0 25 0 32
benign 0 0 3 32 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080680.2(COL11A2):c.*4C>T rs186720023
NM_080680.2(COL11A2):c.1098G>A (p.Ala366=) rs73741539
NM_080680.2(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_080680.2(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.1666-5_1666-3delCCT rs147815324
NM_080680.2(COL11A2):c.1720-4G>T rs369678506
NM_080680.2(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.2(COL11A2):c.1819-10G>A rs3129202
NM_080680.2(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.2(COL11A2):c.2017-5T>G rs200523422
NM_080680.2(COL11A2):c.2115+7T>C rs186051366
NM_080680.2(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457
NM_080680.2(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080680.2(COL11A2):c.233-8G>T rs375268140
NM_080680.2(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.2(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.2(COL11A2):c.2682G>A (p.Pro894=) rs113067047
NM_080680.2(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.2(COL11A2):c.2899-9delT rs397517477
NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.2(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.2(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.2(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.2(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_080680.2(COL11A2):c.3583-3C>T rs727502939
NM_080680.2(COL11A2):c.3583-5T>C rs183536190
NM_080680.2(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872
NM_080680.2(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.2(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.2(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.2(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.2(COL11A2):c.390G>C (p.Arg130=) rs149638770
NM_080680.2(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313
NM_080680.2(COL11A2):c.4041G>A (p.Pro1347=) rs139283268
NM_080680.2(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.2(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333
NM_080680.2(COL11A2):c.4383C>T (p.Pro1461=) rs148262058
NM_080680.2(COL11A2):c.4392+12C>T rs117267045
NM_080680.2(COL11A2):c.4458T>A (p.Gly1486=) rs143186319
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.2(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.2(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912
NM_080680.2(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080680.2(COL11A2):c.4863+7G>A rs200947059
NM_080680.2(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.2(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.5071-5T>G rs368309085
NM_080680.2(COL11A2):c.5106G>A (p.Thr1702=) rs752823488
NM_080680.2(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080680.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080680.2(COL11A2):c.966dup (p.Thr323Hisfs) rs748440351

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