ClinVar Miner

Variants with conflicting interpretations studied for MYH-associated polyposis

Coded as:
Minimum review status of the submission for MYH-associated polyposis: Y axis collection method of the submission for MYH-associated polyposis:
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
194 312 15 54 65 0 15 123

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
MYH-associated polyposis pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 29 4 1 1
likely pathogenic 23 2 7 0 0
uncertain significance 4 8 8 43 10
likely benign 1 0 26 0 13
benign 0 0 4 8 5

Condition to condition summary #

Total conditions: 10
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
Hereditary cancer-predisposing syndrome 0 319 1 33 50 0 12 89
not provided 0 116 14 29 19 0 10 60
not specified 0 89 0 16 22 0 3 36
MYH-associated polyposis 490 106 2 19 11 0 4 33
MUTYH-associated polyposis 0 11 0 7 0 0 1 8
Carcinoma of colon 0 9 0 4 1 0 0 5
Familial colorectal cancer 0 1 0 2 0 0 0 2
MYH-associated polyposis; Pilomatrixoma; Neoplasm of stomach 0 12 0 2 0 0 0 2
Colon cancer 0 0 0 0 0 0 1 1
Small intestine carcinoid 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 123
Download table as spreadsheet
HGVS dbSNP
NM_001048171.1(MUTYH):c.1435-11T>G rs868701952
NM_001048171.1(MUTYH):c.310G>T (p.Glu104Ter) rs1553129892
NM_001048171.1(MUTYH):c.347-13C>G rs201207780
NM_001048171.1(MUTYH):c.37-14T>A rs587781284
NM_001048171.1(MUTYH):c.517C>T (p.Gln173Ter) rs1553128813
NM_001048171.1(MUTYH):c.648+14C>G rs752537118
NM_001048171.1(MUTYH):c.85C>T (p.Gln29Ter) rs768386527
NM_001128425.1(MUTYH):c.1013_1014delAGinsGC (p.Gln338Arg) rs587780083
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) rs372673338
NM_001128425.1(MUTYH):c.1047G>A (p.Trp349Ter) rs1060501324
NM_001128425.1(MUTYH):c.1101dupC (p.Arg368Glnfs) rs768130289
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.1163T>C (p.Leu388Pro) rs1060501335
NM_001128425.1(MUTYH):c.1186+1G>A rs587781337
NM_001128425.1(MUTYH):c.1186+9A>T rs587780742
NM_001128425.1(MUTYH):c.1187-2A>G rs587781628
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1191G>T (p.Leu397=) rs201412035
NM_001128425.1(MUTYH):c.1214_1224delCGTCCGTGACC (p.Pro405Leufs) rs863224501
NM_001128425.1(MUTYH):c.1227_1228dupGG (p.Glu410Glyfs) rs587780078
NM_001128425.1(MUTYH):c.1251C>T (p.Arg417=) rs786202141
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.129C>T (p.Asn43=) rs141679570
NM_001128425.1(MUTYH):c.1310G>A (p.Arg437Gln) rs587782120
NM_001128425.1(MUTYH):c.1321delG (p.Glu441Argfs) rs1064795480
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001128425.1(MUTYH):c.141G>A (p.Lys47=) rs375084663
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) rs74318065
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001128425.1(MUTYH):c.1449C>T (p.Thr483=) rs150269172
NM_001128425.1(MUTYH):c.1465G>A (p.Ala489Thr) rs587782263
NM_001128425.1(MUTYH):c.1476+2C>T rs140288388
NM_001128425.1(MUTYH):c.1477G>T (p.Val493Phe) rs587782228
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) rs587778542
NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.1548G>C (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.1555C>A (p.Arg519=) rs754364718
NM_001128425.1(MUTYH):c.1556G>A (p.Arg519Gln) rs369410616
NM_001128425.1(MUTYH):c.1567C>T (p.Arg523Cys) rs147480076
NM_001128425.1(MUTYH):c.1568G>A (p.Arg523His) rs374655042
NM_001128425.1(MUTYH):c.158-12C>T rs367908623
NM_001128425.1(MUTYH):c.158-4A>G rs748362676
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1600C>A (p.Arg534=) rs144616312
NM_001128425.1(MUTYH):c.1600C>T (p.Arg534Trp) rs144616312
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645
NM_001128425.1(MUTYH):c.188G>A (p.Gly63Glu) rs763693540
NM_001128425.1(MUTYH):c.216G>A (p.Pro72=) rs144551668
NM_001128425.1(MUTYH):c.248C>G (p.Ser83Ter) rs370124822
NM_001128425.1(MUTYH):c.251A>G (p.Tyr84Cys) rs200747973
NM_001128425.1(MUTYH):c.268G>A (p.Val90Ile) rs375526246
NM_001128425.1(MUTYH):c.290G>A (p.Arg97Gln) rs755653922
NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter) rs748170941
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.348+11G>A rs139977567
NM_001128425.1(MUTYH):c.349-5G>A rs1003387951
NM_001128425.1(MUTYH):c.358delG (p.Glu120Argfs) rs786203213
NM_001128425.1(MUTYH):c.36+20C>A rs540793556
NM_001128425.1(MUTYH):c.37-2A>G
NM_001128425.1(MUTYH):c.37-7G>A rs780029247
NM_001128425.1(MUTYH):c.372C>T (p.Asp124=) rs730881836
NM_001128425.1(MUTYH):c.389-1G>A rs372267274
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.389-6C>T rs376600220
NM_001128425.1(MUTYH):c.389-7C>A rs863224698
NM_001128425.1(MUTYH):c.391T>A (p.Trp131Arg) rs730881832
NM_001128425.1(MUTYH):c.401A>T (p.Glu134Val) rs864622450
NM_001128425.1(MUTYH):c.409C>T (p.Leu137=) rs368963039
NM_001128425.1(MUTYH):c.42C>T (p.Ile14=) rs202240122
NM_001128425.1(MUTYH):c.451G>A (p.Gly151Arg) rs587782165
NM_001128425.1(MUTYH):c.453_458dupATGGAT (p.Trp152_Met153insIleTrp) rs876660190
NM_001128425.1(MUTYH):c.463-1G>A rs1057520660
NM_001128425.1(MUTYH):c.467G>A (p.Trp156Ter) rs762307622
NM_001128425.1(MUTYH):c.481G>C (p.Asp161His) rs564930066
NM_001128425.1(MUTYH):c.504+19_504+31delTAGGGGAAATAGG rs781222233
NM_001128425.1(MUTYH):c.505-4A>G rs201678305
NM_001128425.1(MUTYH):c.505-5C>T rs878854191
NM_001128425.1(MUTYH):c.526_535delGGCCTGGGCT (p.Gly176Thrfs) rs1057517457
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.544C>T (p.Arg182Cys) rs747993448
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.572G>A (p.Arg191Gln) rs369677603
NM_001128425.1(MUTYH):c.577-5A>T rs758377868
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001128425.1(MUTYH):c.688C>T (p.Gln230Ter) rs1064796630
NM_001128425.1(MUTYH):c.696C>T (p.Thr232=) rs780747266
NM_001128425.1(MUTYH):c.700G>A (p.Val234Met) rs200165598
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.719C>T (p.Ala240Val) rs369120013
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.736G>T (p.Val246Phe) rs587780749
NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) rs587782885
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.788+4G>A rs761840203
NM_001128425.1(MUTYH):c.813C>T (p.Asp271=) rs730881838
NM_001128425.1(MUTYH):c.820C>T (p.Arg274Trp) rs769237459
NM_001128425.1(MUTYH):c.821G>A (p.Arg274Gln) rs149866955
NM_001128425.1(MUTYH):c.847A>G (p.Met283Val) rs876659676
NM_001128425.1(MUTYH):c.857G>A (p.Gly286Glu) rs730881833
NM_001128425.1(MUTYH):c.881G>A (p.Arg294His) rs146044717
NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu) rs374950566
NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln) rs140156029
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_001128425.1(MUTYH):c.933+10C>T rs1060504205
NM_001128425.1(MUTYH):c.933+3A>C rs587780751
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001128425.1(MUTYH):c.936G>A (p.Val312=) rs751875215
NM_001128425.1(MUTYH):c.961G>A (p.Gly321Arg) rs765686051
NM_001128425.1(MUTYH):c.971C>T (p.Ser324Leu) rs558173961
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001128425.1(MUTYH):c.997+3G>A rs864622394
NM_001128425.1(MUTYH):c.998-8G>A rs757672024
NM_001128425.1(MUTYH):c.998-9C>T rs3219488

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