ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by GeneDx

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs) rs1557135901
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs) rs1557135516
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs) rs1557135851
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs) rs1603307876
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) rs267608332
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs) rs1557135140
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1245del (p.Glu416fs) rs1064796837
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs) rs587783095
NM_001110792.2(MECP2):c.1354dup (p.Val452fs) rs1603307453
NM_001110792.2(MECP2):c.138del (p.Asp46fs) rs1557137983
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs)
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs) rs1603310863
NM_001110792.2(MECP2):c.311del (p.Gly104fs) rs267608446
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
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.361A>G (p.Lys121Glu) rs886041732
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys)
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) rs267608486
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter) rs587783136
NM_001110792.2(MECP2):c.62+2T>A rs1557150841
NM_001110792.2(MECP2):c.62+2T>G rs1557150841
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs) rs587783091
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.855del (p.Ser286fs) rs267608530
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
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.946A>C (p.Lys316Gln) rs61751440
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu) rs1057517905

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