ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for Severe neonatal-onset encephalopathy with microcephaly

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Total variants: 50
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HGVS dbSNP
MECP2, 1-BP DEL, 806G
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.2(MECP2):c.23del (p.Ala8fs)
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
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+1G>A rs786205048
NM_004992.3(MECP2):c.1019dup (p.Ser341fs) rs1557136059
NM_004992.3(MECP2):c.1137del (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1137dup (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1154_1190delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro385_Glu397delinsGlnGlnAsnSerProProTer) rs1569548307
NM_004992.3(MECP2):c.1156_1188del (p.Leu386_Ser396del) rs1569548314
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_*3444del (p.Pro387fs)
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.117_118AG[1] (p.Glu40fs) rs267608428
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.1314_1315CG[1] (p.Ala439fs) rs1557135091
NM_004992.3(MECP2):c.1348dup (p.Tyr450fs) rs1557135004
NM_004992.3(MECP2):c.244A>T (p.Lys82Ter)
NM_004992.3(MECP2):c.27-5778_1138del
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) rs267608469
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.419C>T (p.Ala140Val) rs28934908
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.488_489del (p.Gly163fs) rs267608488
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) rs61749715
NM_004992.3(MECP2):c.749_750insT (p.Gly252fs)
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.852_855AAAG[1] (p.Lys286fs) rs61750256
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.997_1001del (p.Gly333fs) rs1569548376

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