ClinVar Miner

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

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Total variants: 50
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HGVS dbSNP
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr)
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_004992.3(MECP2):c.1025C>G (p.Pro342Arg) rs1569548372
NM_004992.3(MECP2):c.1028_1210del (p.Gly343_Pro403del)
NM_004992.3(MECP2):c.1051_1065del (p.Pro351_Ser355del) rs267608384
NM_004992.3(MECP2):c.1081C>A (p.Pro361Thr)
NM_004992.3(MECP2):c.1081C>T (p.Pro361Ser)
NM_004992.3(MECP2):c.1102C>G (p.His368Asp) rs781968415
NM_004992.3(MECP2):c.1115_1321del (p.His372_Ala441delinsPro) rs1557135080
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1143_1160del (p.Leu382_Pro387del)
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_1201del (p.Pro388_Ser401delinsArg) rs267608602
NM_004992.3(MECP2):c.1164_1184del (p.Pro389_Ser395del) rs1557135539
NM_004992.3(MECP2):c.1175A>C (p.Glu392Ala) rs1557135593
NM_004992.3(MECP2):c.1204C>A (p.Pro402Thr) rs150146088
NM_004992.3(MECP2):c.1250A>T (p.Lys417Met) rs61753968
NM_004992.3(MECP2):c.1279G>A (p.Asp427Asn)
NM_004992.3(MECP2):c.1289C>T (p.Pro430Leu) rs930563451
NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) rs375101073
NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) rs587777421
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.250C>T (p.Arg84Trp) rs1557137821
NM_004992.3(MECP2):c.377A>G (p.Asn126Ser) rs786205037
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.438C>T (p.Gly146=) rs61748386
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.527C>T (p.Pro176Leu) rs61749701
NM_004992.3(MECP2):c.562C>T (p.Arg188Trp)
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.596C>G (p.Pro199Arg) rs267608502
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.623A>G (p.Gln208Arg)
NM_004992.3(MECP2):c.634G>T (p.Val212Phe) rs1569548445
NM_004992.3(MECP2):c.701C>T (p.Ala234Val) rs138211345
NM_004992.3(MECP2):c.71A>G (p.Lys24Arg)
NM_004992.3(MECP2):c.744C>G (p.Ile248Met)
NM_004992.3(MECP2):c.76C>G (p.Leu26Val)
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.839_841CCG[1] (p.Ala281del) rs1569548405
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.912G>C (p.Lys304Asn)
NM_004992.3(MECP2):c.946_1212del (p.Val316_Glu404del)
NM_004992.3(MECP2):c.995G>A (p.Ser332Asn)

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