ClinVar Miner

Variants in gene COL5A1 with conflicting interpretations

See also:
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
762 185 0 84 64 0 5 134

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 1 0 1 1
likely pathogenic 1 0 4 0 0
uncertain significance 0 4 0 61 21
likely benign 1 0 61 0 83
benign 1 0 21 83 0

All variants with conflicting interpretations #

Total variants: 134
Download table as spreadsheet
HGVS dbSNP
NM_001278074.1(COL5A1):c.-37G>A rs374979485
NM_001278074.1(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.110-19T>C rs148294644
NM_001278074.1(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_001278074.1(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_001278074.1(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_001278074.1(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_001278074.1(COL5A1):c.12T>C (p.His4=) rs368818087
NM_001278074.1(COL5A1):c.1333-8A>G rs145620416
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_001278074.1(COL5A1):c.1390-18CT[3] rs863223441
NM_001278074.1(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_001278074.1(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_001278074.1(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_001278074.1(COL5A1):c.1569+15C>T rs62574081
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_001278074.1(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_001278074.1(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_001278074.1(COL5A1):c.1774-7C>A rs371941850
NM_001278074.1(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_001278074.1(COL5A1):c.1935+8T>G rs79195626
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_001278074.1(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_001278074.1(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_001278074.1(COL5A1):c.2034+24C>T rs41298367
NM_001278074.1(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_001278074.1(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_001278074.1(COL5A1):c.2089-8G>A rs368595229
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2134-11G>C rs369317619
NM_001278074.1(COL5A1):c.2181C>T (p.Gly727=)
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_001278074.1(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_001278074.1(COL5A1):c.2331+15C>T rs369093559
NM_001278074.1(COL5A1):c.2331+16G>A rs199654385
NM_001278074.1(COL5A1):c.2382C>T (p.Val794=) rs758190171
NM_001278074.1(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_001278074.1(COL5A1):c.2484+6C>T rs576976549
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2593-15T>C rs747677530
NM_001278074.1(COL5A1):c.2593-3C>T rs199895142
NM_001278074.1(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_001278074.1(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_001278074.1(COL5A1):c.2745+15A>T rs79481146
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.2799+4T>C rs75815945
NM_001278074.1(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_001278074.1(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_001278074.1(COL5A1):c.2844+20G>A rs200916696
NM_001278074.1(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_001278074.1(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_001278074.1(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_001278074.1(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3114+12G>C rs528913410
NM_001278074.1(COL5A1):c.3204+3G>A rs202054108
NM_001278074.1(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_001278074.1(COL5A1):c.3259-8C>T rs146461106
NM_001278074.1(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_001278074.1(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_001278074.1(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_001278074.1(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_001278074.1(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_001278074.1(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_001278074.1(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3474+7C>T rs550497696
NM_001278074.1(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_001278074.1(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3594C>T (p.Gly1198=) rs146176718
NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_001278074.1(COL5A1):c.3691-9T>C rs187584029
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_001278074.1(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_001278074.1(COL5A1):c.3906+10C>T rs183881247
NM_001278074.1(COL5A1):c.3906+19C>T rs571788196
NM_001278074.1(COL5A1):c.3906+20G>A rs148053413
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_001278074.1(COL5A1):c.4068+7G>A rs587780905
NM_001278074.1(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278074.1(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4230+6G>A rs77176843
NM_001278074.1(COL5A1):c.4231-12G>A rs188473199
NM_001278074.1(COL5A1):c.4275C>T (p.Ile1425=) rs767372665
NM_001278074.1(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.4393-9C>T rs11792181
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.67_69CTG[7] (p.Leu28dup) rs773994971
NM_001278074.1(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.787-9C>T rs751472921
NM_001278074.1(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_001278074.1(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_001278074.1(COL5A1):c.924+13C>T rs199836060
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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.