MECP2

Clinically classified variants

159 reference-table entries with clinical significance.

• rs1042870Benignsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs148744894Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs199963992Benignsingle nucleotide variantRett syndrome
• rs2075596Benignsingle nucleotide variant
• rs2075597Benignsingle nucleotide variant
• rs3027915Benignsingle nucleotide variant
• rs3027927Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs3027928Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder
• rs587781033Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs587783128BenignMicrosatelliteX-linked intellectual disability-psychosis-macroorchidism syndrome|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61748381Benignsingle nucleotide variantRett syndrome|History of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61748385Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61748397Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61748413Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61748423Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61749701Benignsingle nucleotide variant
• rs61749706Benignsingle nucleotide variant
• rs61749710Benignsingle nucleotide variant
• rs61749711Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder
• rs61749712Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61749714Benignsingle nucleotide variantRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|History of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61749735Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61749738Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder
• rs61749746Benignsingle nucleotide variant
• rs61750229Benignsingle nucleotide variant
• rs61750248Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61750251Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61750253Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder
• rs61751363Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61751366Benignsingle nucleotide variant
• rs61751372Benignsingle nucleotide variant
• rs61751445Benignsingle nucleotide variantRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|History of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61751446Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder
• rs61751451Benignsingle nucleotide variant
• rs61752361Benignsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61752980Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61753012Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61753014Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61753016Benignsingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61753970Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61753971Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61753975Benignsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61753982BenignDeletionRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61754422Benignsingle nucleotide variant
• rs61754444Benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61754450Benignsingle nucleotide variant
• rs62621674Benignsingle nucleotide variant
• rs193922677Conflicting interpretationssingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome|Severe neonatal-onset encephalopathy with microcephaly|Intellectual disability
• rs267608440Conflicting interpretationssingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61748420Conflicting interpretationssingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|See cases
• rs61748427Conflicting interpretationssingle nucleotide variantRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61751370Conflicting interpretationssingle nucleotide variantRett syndrome|Autism, susceptibility to, X-linked 3|Syndromic X-linked intellectual disability Lubs type
• rs61753968Conflicting interpretationssingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61753973Conflicting interpretationssingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs797045692Conflicting interpretationssingle nucleotide variant
• rs145790362Likely benignsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs267608633Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61748386Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61749740Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61750257Likely benignsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61752373Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61753967Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly
• rs61754420Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61754440Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs61754442Likely benignsingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome
• rs193922679Likely pathogenicsingle nucleotide variantRett syndrome
• rs61754457Likely pathogenicsingle nucleotide variantRett syndrome
• rs179363901Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs267608411Pathogenicsingle nucleotide variantRett syndrome
• rs267608455Pathogenicsingle nucleotide variantRett syndrome
• rs267608486PathogenicDeletionRett syndrome
• rs267608506PathogenicInsertionRett syndrome
• rs267608513Pathogenicsingle nucleotide variantRett syndrome
• rs267608525Pathogenicsingle nucleotide variantRett syndrome
• rs267608615PathogenicDeletionEncephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
• rs28934906Pathogenicsingle nucleotide variantRett syndrome|Angelman syndrome|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|Inborn genetic diseases|History of neurodevelopmental disorder|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Abnormality of the nervous system|X-linked intellectual disability-psychosis-macroorchidism syndrome|Neurodevelopmental delay
• rs28934908Pathogenicsingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|8 conditions|Severe neonatal-onset encephalopathy with microcephaly|Behavioral abnormality|Autism, susceptibility to, X-linked 3|Intellectual disability|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Neurodevelopmental disorder
• rs28935168Pathogenicsingle nucleotide variantRett syndrome
• rs28935468Pathogenicsingle nucleotide variantRett syndrome|Angelman syndrome|Intellectual disability|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|See cases|Neurodevelopmental delay
• rs61748389Pathogenicsingle nucleotide variantRett syndrome
• rs61748390Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61748391Pathogenicsingle nucleotide variantRett syndrome
• rs61748393PathogenicDeletionRett syndrome
• rs61748395Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61748396Pathogenicsingle nucleotide variantAtypical Rett syndrome|Angelman syndrome|Rett syndrome|Inborn genetic diseases|Severe neonatal-onset encephalopathy with microcephaly
• rs61748399Pathogenicsingle nucleotide variantRett syndrome
• rs61748402PathogenicDeletionRett syndrome
• rs61748404Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome
• rs61748408Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61748411Pathogenicsingle nucleotide variantRett syndrome
• rs61748415PathogenicDeletionRett syndrome
• rs61748421Pathogenicsingle nucleotide variantRett syndrome|Intellectual disability|Severe neonatal-onset encephalopathy with microcephaly|Global developmental delay|Developmental regression|History of neurodevelopmental disorder
• rs61748425Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61749703PathogenicDeletionRett syndrome
• rs61749707PathogenicDeletionRett syndrome
• rs61749709PathogenicDuplicationRett syndrome
• rs61749715Pathogenicsingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome
• rs61749717Pathogenicsingle nucleotide variantRett syndrome
• rs61749718Pathogenicsingle nucleotide variantRett syndrome
• rs61749721Pathogenicsingle nucleotide variantRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|History of neurodevelopmental disorder|Abnormality of the nervous system|Neurodevelopmental delay
• rs61749723Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61749724Pathogenicsingle nucleotide variantRett syndrome|Inborn genetic diseases
• rs61749726Pathogenicsingle nucleotide variantRett syndrome
• rs61749727PathogenicDeletionRett syndrome
• rs61749729Pathogenicsingle nucleotide variantRett syndrome
• rs61749739Pathogenicsingle nucleotide variantRett syndrome
• rs61749743PathogenicDeletionRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61749747Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61749750PathogenicDeletionRett syndrome
• rs61750240Pathogenicsingle nucleotide variantRett syndrome|Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome|Inborn genetic diseases|Autism, susceptibility to, X-linked 3|Syndromic X-linked intellectual disability Lubs type
• rs61750247PathogenicDeletionRett syndrome
• rs61750259Pathogenicsingle nucleotide variantRett syndrome
• rs61751362Pathogenicsingle nucleotide variantAutism, susceptibility to, X-linked 3|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Rett syndrome|Syndromic X-linked intellectual disability Lubs type|Severe neonatal-onset encephalopathy with microcephaly|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|See cases
• rs61751367Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61751440Pathogenicsingle nucleotide variantRett syndrome
• rs61751443Pathogenicsingle nucleotide variantRett syndrome|Neurodevelopmental disorder|Severe neonatal-onset encephalopathy with microcephaly
• rs61751444Pathogenicsingle nucleotide variantAutism, susceptibility to, X-linked 3|Rett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Inborn genetic diseases|Intellectual disability|Severe neonatal-onset encephalopathy with microcephaly
• rs61752372Pathogenicsingle nucleotide variantRett syndrome
• rs61753965Pathogenicsingle nucleotide variantRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61753979Pathogenicsingle nucleotide variantRett syndrome|Intellectual disability
• rs61754424Pathogenicsingle nucleotide variant
• rs61754425Pathogenicsingle nucleotide variantRett syndrome|History of neurodevelopmental disorder
• rs61754426PathogenicDeletionRett syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome
• rs61754428PathogenicDeletionRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61754432Pathogenicsingle nucleotide variantRett syndrome
• rs61754437Pathogenicsingle nucleotide variantRett syndrome
• rs61754438PathogenicDeletionRett syndrome
• rs61754452Pathogenicsingle nucleotide variantRett syndrome
• rs61754453Pathogenicsingle nucleotide variantRett syndrome
• rs61754455Pathogenicsingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs61755761PathogenicDeletionRett syndrome
• rs63259763Pathogenicsingle nucleotide variant
• rs63749008PathogenicDuplicationRett syndrome
• rs63749065PathogenicDeletion
• rs267608388Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder|Rett syndrome
• rs267608492Uncertain significancesingle nucleotide variantRett syndrome|Severe neonatal-onset encephalopathy with microcephaly
• rs267608550Uncertain significancesingle nucleotide variant
• rs61748384Uncertain significancesingle nucleotide variantRett syndrome
• rs61748406Uncertain significancesingle nucleotide variantRett syndrome
• rs61748407Uncertain significancesingle nucleotide variantRett syndrome
• rs61748414Uncertain significancesingle nucleotide variantAutism, susceptibility to, X-linked 3|Rett syndrome
• rs61748417Uncertain significancesingle nucleotide variantRett syndrome
• rs61748426Uncertain significancesingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome
• rs61749705Uncertain significancesingle nucleotide variantAutism, susceptibility to, X-linked 3
• rs61750239Uncertain significancesingle nucleotide variantSevere neonatal-onset encephalopathy with microcephaly|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|Autism, susceptibility to, X-linked 3|X-linked intellectual disability-psychosis-macroorchidism syndrome|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome
• rs61750249Uncertain significancesingle nucleotide variantRett syndrome|Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly|Syndromic X-linked intellectual disability Lubs type|X-linked intellectual disability-psychosis-macroorchidism syndrome
• rs61751360Uncertain significancesingle nucleotide variantRett syndrome
• rs61751441Uncertain significancesingle nucleotide variantRett syndrome
• rs61751448Uncertain significancesingle nucleotide variantRett syndrome
• rs61753978Uncertain significancesingle nucleotide variantRett syndrome
• rs61753980Uncertain significancesingle nucleotide variantX-linked intellectual disability-psychosis-macroorchidism syndrome
• rs61754451Uncertain significancesingle nucleotide variantRett syndrome
• rs61754458Uncertain significancesingle nucleotide variantRett syndrome
• rs61754459Uncertain significancesingle nucleotide variantRett syndrome
• rs61755762Uncertain significancesingle nucleotide variant
• rs61755763Uncertain significancesingle nucleotide variantRett syndrome
• rs62621672Uncertain significancesingle nucleotide variantRett syndrome
• rs61751452Not classifiedDeletion
• rs63749027Not classifiedDeletion

Other listed variants

• rs17435
• rs1624766
• rs1734787
• rs1734791
• rs1734792
• rs2734647
• rs3027935
• rs5945175
• rs5987194
• rs5987201
• rs7050901
• rs7059306
• rs7884370
• rs12390885

Public references

• NCBI Gene
• Ensembl
• ClinVar