ClinVar Miner

List of variants in gene MECP2 reported as likely pathogenic

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Total variants: 53
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HGVS dbSNP
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1001_1183del (p.Lys334_Glu394del) rs1557135547
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363fs) rs1557135929
NM_004992.3(MECP2):c.1094_1138del (p.Glu365_Pro379del) rs1064792899
NM_004992.3(MECP2):c.1152_1171del (p.Pro384_Pro385insTer) rs1557135631
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1159_1174del (p.Pro387fs) rs267608373
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1163dup (p.Pro389fs) rs267608339
NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
NM_004992.3(MECP2):c.1164_1199delinsT (p.Pro389fs) rs1557135346
NM_004992.3(MECP2):c.1214_1227del (p.Pro405fs) rs1557135208
NM_004992.3(MECP2):c.1246G>T (p.Glu416Ter) rs1057519216
NM_004992.3(MECP2):c.1350C>G (p.Tyr450Ter) rs1557134999
NM_004992.3(MECP2):c.1450_*24del (p.Arg484_Ter487del) rs1557134792
NM_004992.3(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.3(MECP2):c.253C>T (p.Arg85Cys) rs1064797047
NM_004992.3(MECP2):c.27-8916_1212del
NM_004992.3(MECP2):c.312G>T (p.Trp104Cys) rs1557137745
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.332G>A (p.Arg111Lys) rs1057518718
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.353G>C (p.Gly118Ala) rs1557137672
NM_004992.3(MECP2):c.376A>G (p.Asn126Asp) rs1064796513
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_004992.3(MECP2):c.397C>A (p.Arg133Ser) 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.451G>T (p.Asp151Tyr) rs1557137042
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.468C>A (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.487G>T (p.Gly163Trp) rs1557136974
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.569G>A (p.Arg190His) rs1557136818
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.815del (p.Pro272fs) rs1057518568
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.907A>G (p.Ile303Val) rs1057522038
NM_004992.3(MECP2):c.915G>T (p.Lys305Asn) rs1057519543
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.917G>C (p.Arg306Pro) rs61751443
NM_004992.3(MECP2):c.919A>G (p.Lys307Glu) rs1131691480
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444

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