ClinVar Miner

List of variants in gene MECP2 studied for X-linked intellectual disability-psychosis-macroorchidism syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 70
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HGVS dbSNP
MECP2, 240-BP DEL, NT1161
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NM_001110792.1(MECP2):c.-27_-26delAG rs587783128
NM_001110792.1(MECP2):c.-27_-26delAGinsTT rs786205039
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.1(MECP2):c.1049C>G (p.Thr350Ser) rs786204313
NM_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs) rs61752992
NM_001110792.1(MECP2):c.15_23dup (p.Ala8_Pro9insAlaAlaAla) rs398123566
NM_001110792.1(MECP2):c.41_57dup (p.Arg20Glufs) rs1557150846
NM_001110792.1(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.1(MECP2):c.991G>A (p.Val331Met)
NM_004992.3(MECP2):c.-143_-138delCGCCGC rs398123566
NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs) rs267608426
NM_004992.3(MECP2):c.1101_1201del101 (p.His367Glnfs) rs1557135315
NM_004992.3(MECP2):c.1111dup (p.His371Profs) rs1057519404
NM_004992.3(MECP2):c.1135_1142delCCCGTGCC (p.Pro379Thrfs) rs267608571
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) rs267608327
NM_004992.3(MECP2):c.1159_1160delCCinsT (p.Pro387Serfs) rs267608590
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1161_1400del240 (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162_1163delCCinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1233_1243del11 (p.Ser411Argfs) rs786205036
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1415_1416delAG (p.Glu472Glyfs) rs267608634
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.420G>A (p.Ala140=) rs782082759
NM_004992.3(MECP2):c.450G>C (p.Leu150=) rs1060504124
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.561C>A (p.Gly187=) rs200074866
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_004992.3:c.(?_-226)_(*1_?)dup

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