ClinVar Miner

Variants in gene MECP2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 116
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) rs1557135016
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) rs267608559
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) rs1557135426
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) rs1557135268
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) rs1557135285
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) rs267608567
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) rs1557135213
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) rs1557135299
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) rs1557134378
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) rs1557134779
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) rs267608580
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) rs267608584
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) rs61754427
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) rs63749064
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.162dup (p.His55fs) rs61754430
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) rs267608445
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) rs267608449
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) rs61754453
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) rs61754453
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) rs63749010
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.381del (p.Ser128fs) rs61755761
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.447del (p.Glu149fs) rs61748393
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) rs61748398
NM_001110792.2(MECP2):c.475del (p.Asp159fs) rs62952161
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.516del (p.Arg174fs) rs61748415
NM_001110792.2(MECP2):c.519del (p.Arg174fs) rs61748418
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.567del (p.Lys189fs) rs61749703
NM_001110792.2(MECP2):c.590del (p.Gly197fs) rs61749707
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) rs267608506
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) rs61754421
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) rs1557135847
NM_001110792.2(MECP2):c.653del (p.Gly218fs) rs61749727
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) rs1557135670
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) rs1557135197
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) rs1557135499
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) rs61750259
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) rs267608536
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.919del (p.Ser307fs) rs267608541
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) rs267608543
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) rs1557135622
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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