ClinVar Miner

Variants in gene MECP2 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
757 169 2 68 44 2 26 121

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 risk factor
pathogenic 2 16 17 2 3 2
likely pathogenic 16 0 9 0 0 1
uncertain significance 17 9 0 33 24 0
likely benign 2 0 33 0 52 0
benign 3 0 24 52 0 0
risk factor 2 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP
MECP2, 41-BP DEL, NT1157
NM_001110792.1(MECP2):c.-27_-26delAG rs587783128
NM_001110792.1(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.1(MECP2):c.15_23delCGCCGCCGC (p.Ala6_Ala8del) rs398123566
NM_001110792.1(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.1(MECP2):c.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly) rs587783744
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.1(MECP2):c.62+1G>A rs786205048
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.-140_-138dup rs398123566
NM_004992.3(MECP2):c.-143_-138delCGCCGC rs398123566
NM_004992.3(MECP2):c.-143_-138dup rs398123566
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1101_1106delCCACCA (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) rs1557135353
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1147C>T (p.Leu383Phe) rs1340029095
NM_004992.3(MECP2):c.1155_1200del46 (p.Leu386Alafs) rs267608329
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1162_1179del18 (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1163_1197del35 (p.Pro388Hisfs) rs267608589
NM_004992.3(MECP2):c.1168_1173delCCACCT (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1196C>T (p.Pro399Leu) rs62915962
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1215C>T (p.Pro405=) rs61753964
NM_004992.3(MECP2):c.1234G>A (p.Val412Ile) rs61753966
NM_004992.3(MECP2):c.1237T>C (p.Cys413Arg) rs797045692
NM_004992.3(MECP2):c.1278C>T (p.Ser426=) rs267608619
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.1404G>A (p.Arg468=) rs267608633
NM_004992.3(MECP2):c.1422T>C (p.Pro474=) rs1557134910
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.375C>A (p.Ile125=) rs146107517
NM_004992.3(MECP2):c.377+18C>G rs267608461
NM_004992.3(MECP2):c.377+6_377+9delTAAG rs267608459
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) rs61749701
NM_004992.3(MECP2):c.54C>G (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.591G>A (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.596C>G (p.Pro199Arg) rs267608502
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.603G>A (p.Ala201=) rs267608504
NM_004992.3(MECP2):c.633G>C (p.Arg211Ser) rs61749731
NM_004992.3(MECP2):c.660C>T (p.Leu220=) rs267608512
NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.687G>T (p.Ser229=) rs782461567
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.714G>A (p.Gly238=) rs369813305
NM_004992.3(MECP2):c.720C>T (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) rs141382970
NM_004992.3(MECP2):c.749G>A (p.Arg250His) rs61750227
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.815C>T (p.Pro272Leu) rs61750243
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.840delC (p.Ala281Profs) rs1557136332
NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) rs782239416
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.936C>T (p.Val312=) rs398124188
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894

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