ClinVar Miner

Variants with conflicting interpretations studied for Fibrochondrogenesis

Coded as:
Minimum review status of the submission for Fibrochondrogenesis: Y axis collection method of the submission for Fibrochondrogenesis:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
4 150 0 39 27 1 0 66

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.

All conditions
Fibrochondrogenesis uncertain significance likely benign benign risk factor
uncertain significance 0 6 2 0
likely benign 19 0 39 0
benign 0 0 0 1

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
not specified 0 53 0 39 15 0 0 54
not provided 0 14 0 5 15 0 0 20
Connective tissue disorder 0 12 0 0 3 0 0 3
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 0 0 1 0 0 1
Lumbar disc herniation, susceptibility to 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
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.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.2578T>A (p.Phe860Ile) rs141548164
NM_001854.3(COL11A1):c.2611-4C>T rs79505593
NM_001854.3(COL11A1):c.2901A>C (p.Gly967=) rs149526015
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.4603T>C (p.Ser1535Pro) rs1676486
NM_001854.3(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
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
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.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.1666-5_1666-3delCCT rs147815324
NM_080680.2(COL11A2):c.1782C>T (p.Asp594=) rs41266697
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.2336C>T (p.Pro779Leu) rs150877886
NM_080680.2(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.2(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.2(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.2(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
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.4041G>A (p.Pro1347=) rs139283268
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.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.5071-5T>G rs368309085
NM_080680.2(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429

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