ClinVar Miner

Variants in gene COL2A1 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
315 72 0 40 29 0 4 63

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 5 3 0 0
likely pathogenic 5 0 3 0 0
uncertain significance 3 3 0 26 11
likely benign 0 0 26 0 35
benign 0 0 11 35 0

All variants with conflicting interpretations #

Total variants: 63
Download table as spreadsheet
HGVS dbSNP
NM_001844.4(COL2A1):c.*4C>T rs41272773
NM_001844.4(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.4(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.4(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.4(COL2A1):c.1266+5G>A rs1064794958
NM_001844.4(COL2A1):c.1266+7G>A rs41317915
NM_001844.4(COL2A1):c.1366-11C>T rs10875714
NM_001844.4(COL2A1):c.1366-13C>A rs200984998
NM_001844.4(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490
NM_001844.4(COL2A1):c.1545C>A (p.Arg515=) rs41317925
NM_001844.4(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.4(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.4(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.4(COL2A1):c.17C>A (p.Ala6Asp) rs369359592
NM_001844.4(COL2A1):c.1836T>C (p.Gly612=) rs41317939
NM_001844.4(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.4(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.4(COL2A1):c.1962C>T (p.Gly654=) rs794727533
NM_001844.4(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.4(COL2A1):c.2094+12G>C rs17122510
NM_001844.4(COL2A1):c.2094+7A>G rs17801742
NM_001844.4(COL2A1):c.2095-4G>A rs111570218
NM_001844.4(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.4(COL2A1):c.2295C>T (p.Gly765=) rs2276454
NM_001844.4(COL2A1):c.2307C>T (p.Asp769=) rs145023922
NM_001844.4(COL2A1):c.2334C>T (p.Ala778=) rs35504014
NM_001844.4(COL2A1):c.2400T>C (p.Asn800=) rs1635553
NM_001844.4(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.4(COL2A1):c.2484G>C (p.Gly828=) rs1793940
NM_001844.4(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.4(COL2A1):c.25A>T (p.Thr9Ser) rs3803183
NM_001844.4(COL2A1):c.2625+9C>T rs41272027
NM_001844.4(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.4(COL2A1):c.2680-9C>T rs369022247
NM_001844.4(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001844.4(COL2A1):c.3000G>A (p.Pro1000=) rs1793947
NM_001844.4(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.4(COL2A1):c.3327+3G>A rs192229438
NM_001844.4(COL2A1):c.3561T>G (p.Pro1187=) rs536885536
NM_001844.4(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.4(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.4(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.4(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123
NM_001844.4(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427
NM_001844.4(COL2A1):c.4068C>T (p.Gly1356=) rs17122498
NM_001844.4(COL2A1):c.4075-14C>G rs12721425
NM_001844.4(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.4(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
NM_001844.4(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.4(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.4(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739
NM_001844.4(COL2A1):c.426A>T (p.Glu142Asp) rs34392760
NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886
NM_001844.4(COL2A1):c.4326C>T (p.Thr1442=) rs201223454
NM_001844.4(COL2A1):c.504C>A (p.Gly168=) rs3737548
NM_001844.4(COL2A1):c.507C>T (p.Pro169=) rs143851987
NM_001844.4(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.4(COL2A1):c.610-7G>A rs7967258
NM_001844.4(COL2A1):c.654+15T>G rs1034762
NM_001844.4(COL2A1):c.708+8C>T rs41317893
NM_001844.4(COL2A1):c.709-8G>T rs200757693
NM_001844.4(COL2A1):c.762+15G>A rs10875716
NM_001844.4(COL2A1):c.85+10C>G rs769941617

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.