ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.-99+2T>G rs1557150841
NM_004992.3(MECP2):c.1007_1097delinsCTGTAAGTGCAC (p.Leu336fs) rs1557135901
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.3(MECP2):c.102del (p.Asp34fs) rs1557137983
NM_004992.3(MECP2):c.1041_*29del (p.Lys347_Ter487delinsXaa) rs1557134784
NM_004992.3(MECP2):c.1085_1186delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro362fs) rs1557135516
NM_004992.3(MECP2):c.1086del (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1086dup (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1105del (p.His369fs) rs267608568
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1119dup (p.Glu374fs) rs1557135851
NM_004992.3(MECP2):c.1128_1179del (p.Lys377fs) rs1557135571
NM_004992.3(MECP2):c.1129_1193del (p.Lys377fs) rs1557135423
NM_004992.3(MECP2):c.1129_1198del (p.Lys377fs) rs1557135353
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1157_1191del (p.Leu386fs) rs267608586
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1160_1166del (p.Pro387fs) rs267608332
NM_004992.3(MECP2):c.1160_1200del (p.Pro387fs) rs267608592
NM_004992.3(MECP2):c.1161_1266del (p.Pro388fs) rs1557135140
NM_004992.3(MECP2):c.1162_1163del (p.Pro388fs) rs267608339
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1166dup (p.Pro390fs) rs797044733
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.1208dup (p.Pro403_Glu404insTer) rs781843758
NM_004992.3(MECP2):c.1209del (p.Glu404fs) rs1064796837
NM_004992.3(MECP2):c.1214_1230del (p.Pro405fs) rs267608615
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1271_1416del (p.Leu424fs) rs1557134923
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1290dup (p.Lys431fs) rs587783095
NM_004992.3(MECP2):c.1324_1364del (p.Thr442fs) rs267608625
NM_004992.3(MECP2):c.1330_1342del (p.Ala444fs) rs63749065
NM_004992.3(MECP2):c.1338_1343del (p.Ala447_Glu448del) rs786205022
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) rs61754437
NM_004992.3(MECP2):c.229_238del (p.Ala77fs) rs63749009
NM_004992.3(MECP2):c.249_250ins7
NM_004992.3(MECP2):c.275del (p.Gly92fs) rs267608446
NM_004992.3(MECP2):c.283_286del (p.Tyr95fs) rs1557137776
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.325A>G (p.Lys109Glu) rs886041732
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
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.422dup (p.Tyr141Ter) rs61748394
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.46C>T (p.Gln16Ter) rs61754424
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.480_481del (p.Gly161fs) rs267608486
NM_004992.3(MECP2):c.495del (p.Ser166fs) rs267608489
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.523A>T (p.Lys175Ter) rs61748428
NM_004992.3(MECP2):c.529A>T (p.Lys177Ter) rs61749702
NM_004992.3(MECP2):c.556A>T (p.Arg186Ter) rs587783136
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.56dup (p.Leu21fs) rs267608417
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) rs61749729
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) rs267608513
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.689_756del (p.Pro230fs) rs1557136493
NM_004992.3(MECP2):c.690del (p.Gly232fs) rs1064793576
NM_004992.3(MECP2):c.715del (p.Ala239fs) rs61749744
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.748dup (p.Arg250fs) rs61749752
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753del (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.760A>T (p.Lys254Ter) rs63259763
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.764_765ins8
NM_004992.3(MECP2):c.765_1158del (p.Lys256fs) rs1557135734
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.807_*125del (p.Gly269_Ter487delinsXaa) rs1557134716
NM_004992.3(MECP2):c.807_819dup (p.Ser274fs) rs587783091
NM_004992.3(MECP2):c.819del (p.Ser274fs) rs267608530
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.854dup (p.Lys286fs) rs267608531
NM_004992.3(MECP2):c.864dup (p.Lys289fs) rs267608535
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.910A>C (p.Lys304Gln) rs61751440
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
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.943_1140del198ins6
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.[1155_1200del;987_988del]

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.