ClinVar Miner

Variants in gene COL5A2 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
357 88 0 54 29 0 5 79

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 0 1 0 0
likely pathogenic 0 0 4 0 0
uncertain significance 1 4 0 29 9
likely benign 0 0 29 0 54
benign 0 0 9 54 0

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.3(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.2627G>A (p.Gly876Glu) rs886039694
NM_000393.3(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.3(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.3(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.3(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.-34C>T rs114102476
NM_000393.4(COL5A2):c.-50C>T rs183260194
NM_000393.4(COL5A2):c.1006-9C>T rs73978832
NM_000393.4(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.4(COL5A2):c.1104+15T>C rs75486409
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.4(COL5A2):c.1455+6G>A rs113512079
NM_000393.4(COL5A2):c.1455+6G>T rs113512079
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.1563+5A>G rs777118100
NM_000393.4(COL5A2):c.1618-19C>G rs189970491
NM_000393.4(COL5A2):c.1716+9A>G rs201934598
NM_000393.4(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.4(COL5A2):c.1923+8T>C rs191193125
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2338-6T>C rs375291199
NM_000393.4(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.4(COL5A2):c.2392-4A>G rs758314268
NM_000393.4(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.2770-15delT rs577038385
NM_000393.4(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.4(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853
NM_000393.4(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3364-17C>T rs201720941
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.370-16C>T rs148220961
NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.4(COL5A2):c.568-10G>A rs58106884
NM_000393.4(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.4(COL5A2):c.852+14C>T rs56310996
NM_000393.4(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.4(COL5A2):c.906+10A>T rs776578452
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.4(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.4(COL5A2):c.98-12T>G rs117917418

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