ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for X-linked intellectual disability-psychosis-macroorchidism syndrome

Included ClinVar conditions (4):
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Total variants: 25
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HGVS dbSNP
MECP2, 240-BP DEL, NT1161
NC_000023.10:g.(?_153287264)_(153363188_?)dup
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.104_107AGAA[1] (p.Glu37fs) rs267608426
NM_004992.3(MECP2):c.1101_1201del (p.His367fs) rs1557135315
NM_004992.3(MECP2):c.1111dup (p.His371fs) rs1057519404
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
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.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1411_1412AG[2] (p.Glu472fs) rs267608634
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.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449

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