MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61748391
rs61748391 		1.000 0.080 X 154031425 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748406
rs61748406 		1.000 0.080 X 154031365 missense variant A/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748407
rs61748407 		1.000 0.080 X 154031361 missense variant T/C;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748417
rs61748417 		1.000 0.080 X 154031346 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61749730
rs61749730 		1.000 0.080 X 154031199 missense variant T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61751373
rs61751373 		1.000 0.080 X 154030924 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61751441
rs61751441 		1.000 0.080 X 154030914 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61753000
rs61753000 		1.000 0.080 X 154030666 missense variant G/A;C snv 5.8E-06; 7.5E-05; 3.5E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61751450
rs61751450 		1.000 0.080 X 154030863 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1999 2017
dbSNP: rs1557136758
rs1557136758 		X 154031215 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs1557137745
rs1557137745 		X 154032272 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs1557137745
rs1557137745 		X 154032272 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61748396
rs61748396 		0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61749724
rs61749724 		1.000 0.080 X 154031217 stop gained G/A;C snv 5.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61750240
rs61750240 		0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61750240
rs61750240 		0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61750240
rs61750240 		0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61750241
rs61750241 		0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61750241
rs61750241 		0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61751443
rs61751443 		0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61751443
rs61751443 		0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61751444
rs61751444 		0.882 0.080 X 154030903 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61752992
rs61752992 		0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 1993 2016
dbSNP: rs267608327
rs267608327 		0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 11 2000 2011