ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for Rett syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.*122del rs267608342
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*92C>G rs62621672
NM_004992.3(MECP2):c.-15C>T rs267608324
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1015T>C (p.Cys339Arg) rs267608560
NM_004992.3(MECP2):c.1030C>G (p.Arg344Gly) rs61752361
NM_004992.3(MECP2):c.1030C>T (p.Arg344Trp) rs61752361
NM_004992.3(MECP2):c.1043_1173delinsTG (p.Glu348_Pro391delinsVal) rs1557135603
NM_004992.3(MECP2):c.1048_1095del (p.Ser350_Glu365del) rs267608562
NM_004992.3(MECP2):c.1061_1156del (p.Arg354_Pro385del) rs1557135746
NM_004992.3(MECP2):c.1065C>A (p.Ser355Arg) rs267608563
NM_004992.3(MECP2):c.1093_1095del (p.Glu365del) rs786205032
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1117_1203del (p.Ser373_Ser401del) rs1557135279
NM_004992.3(MECP2):c.1123_1191del (p.Ser375_Glu397del) rs1557135441
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1151_1183del (p.Pro384_Ser395delinsArg) rs267608575
NM_004992.3(MECP2):c.1153_1188del (p.Pro385_Ser396del) rs786205033
NM_004992.3(MECP2):c.1155_1166del (p.Leu386_Pro389del) rs782174572
NM_004992.3(MECP2):c.1155_1208del (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1156_1200del (p.Leu386_Thr400del) rs267608581
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1160_1180del (p.Pro387_Glu394delinsGln) rs267608594
NM_004992.3(MECP2):c.1160_1200delinsAGGGGTGG (p.Pro387_Thr400delinsGlnGlyTrp) rs267608343
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1191del (p.Pro388_Glu397del) rs63749034
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_1216del (p.Pro388_Pro405del) rs1557135234
NM_004992.3(MECP2):c.1164_1172del (p.Pro389_Pro391del) rs267608604
NM_004992.3(MECP2):c.1164_1208del (p.Pro389_Pro403del) rs267608605
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1229G>A (p.Ser410Asn) rs267608616
NM_004992.3(MECP2):c.1340C>T (p.Ala447Val) rs61753978
NM_004992.3(MECP2):c.1403_1408del (p.Arg468_Pro469del) rs267608632
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1454_1457del (p.Val485fs) rs267608640
NM_004992.3(MECP2):c.1461A>C (p.Ter487Cys) rs267608642
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.257C>G (p.Ser86Cys) rs61754445
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.277C>T (p.Pro93Ser) rs61754447
NM_004992.3(MECP2):c.289G>T (p.Asp97Tyr) rs61754448
NM_004992.3(MECP2):c.28G>C (p.Glu10Gln) rs61754421
NM_004992.3(MECP2):c.291C>A (p.Asp97Glu) rs61754449
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.299T>G (p.Leu100Arg) rs61754451
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.308G>A (p.Gly103Asp) rs267608450
NM_004992.3(MECP2):c.310T>C (p.Trp104Arg) rs267608451
NM_004992.3(MECP2):c.316C>G (p.Arg106Gly) rs28934907
NM_004992.3(MECP2):c.317G>T (p.Arg106Leu) rs61754457
NM_004992.3(MECP2):c.323T>A (p.Leu108His) rs61754458
NM_004992.3(MECP2):c.331A>G (p.Arg111Gly) rs61754459
NM_004992.3(MECP2):c.341G>C (p.Gly114Ala) rs61755760
NM_004992.3(MECP2):c.358T>G (p.Tyr120Asp) rs267608454
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.372G>C (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.372G>T (p.Leu124Phe) rs61755763
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.383A>C (p.Gln128Pro) rs61748383
NM_004992.3(MECP2):c.386G>T (p.Gly129Val) rs61748384
NM_004992.3(MECP2):c.392C>A (p.Ala131Asp) rs267608470
NM_004992.3(MECP2):c.397C>G (p.Arg133Gly) rs28934904
NM_004992.3(MECP2):c.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.398G>T (p.Arg133Leu) rs61748389
NM_004992.3(MECP2):c.400T>C (p.Ser134Pro) rs267608471
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.413T>C (p.Leu138Ser) rs267608475
NM_004992.3(MECP2):c.422A>G (p.Tyr141Cys) rs61748395
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.463T>A (p.Phe155Ile) rs61748406
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.467A>C (p.Asp156Ala) rs61748407
NM_004992.3(MECP2):c.467A>G (p.Asp156Gly) rs61748407
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.471C>G (p.Phe157Leu) rs267608484
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.481G>T (p.Gly161Trp) rs61748416
NM_004992.3(MECP2):c.482G>A (p.Gly161Glu) rs61748417
NM_004992.3(MECP2):c.482G>T (p.Gly161Val) rs61748417
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.629A>T (p.Lys210Ile) rs61749730
NM_004992.3(MECP2):c.635_655del (p.Val212_Lys219delinsGlu) rs267608509
NM_004992.3(MECP2):c.649C>T (p.Pro217Ser) rs786205894
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.836C>T (p.Ala279Val) rs61750249
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.871T>G (p.Ser291Ala) rs61751360
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.900_908del (p.Leu301_Ile303del) rs267608545
NM_004992.3(MECP2):c.904C>A (p.Pro302Thr) rs61751373
NM_004992.3(MECP2):c.904C>G (p.Pro302Ala) rs61751373
NM_004992.3(MECP2):c.904C>T (p.Pro302Ser) rs61751373
NM_004992.3(MECP2):c.905C>A (p.Pro302His) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.908T>G (p.Ile303Ser) rs267608549
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.910A>G (p.Lys304Glu) rs61751440
NM_004992.3(MECP2):c.913A>G (p.Lys305Glu) rs267608551
NM_004992.3(MECP2):c.914A>G (p.Lys305Arg) rs61751441
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.953A>C (p.Glu318Ala) rs61751448
NM_004992.3(MECP2):c.964C>G (p.Pro322Ala) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.982C>G (p.Leu328Val) rs267608556

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.