ClinVar Miner

Variants in gene MEFV 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
406 122 0 35 52 0 30 85

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 9 24 6 2
likely pathogenic 9 0 14 5 3
uncertain significance 24 14 0 38 25
likely benign 6 5 38 0 26
benign 2 3 25 26 0

All variants with conflicting interpretations #

Total variants: 85
Download table as spreadsheet
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1038C>G (p.Gly346=) rs141090517
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) rs104895100
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1587+18C>T rs11466030
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1610+10G>T rs11466033
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-30T>A rs1231123
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.344C>G (p.Pro115Arg) rs201766654
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.405C>T (p.Tyr135=) rs766323718
NM_000243.2(MEFV):c.411C>T (p.Gly137=) rs1266277814
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.416C>A (p.Ala139Asp) rs575678784
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.48G>A (p.Leu16=) rs777381107
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.801A>G (p.Thr267=) rs141455838
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.911-12G>A rs372016564
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.1730C>A rs1057516210
NM_000243.3(MEFV):c.2040G>A rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2082G>A rs28940578
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_001198536.1(MEFV):c.277+2004_277+2007dup rs104895138

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