ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 50
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HGVS dbSNP
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
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.1007_1194del (p.Leu336fs) rs1557135418
NM_004992.3(MECP2):c.1066_1166del (p.Ser357fs) rs1557135664
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
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.1158_*117del (p.Pro387fs) rs1557134720
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1214_1230del (p.Pro405fs) rs267608615
NM_004992.3(MECP2):c.1276_*113del299ins3
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.215del (p.Pro72fs) rs61754441
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.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
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.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.47_57del (p.Gln16fs) rs797045694
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.56dup (p.Leu21fs) rs267608417
NM_004992.3(MECP2):c.665_671dup (p.Met224fs) rs797045695
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.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.898_1166del (p.Val300fs) rs1557135666
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

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