MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Source: ALL
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: rs1557135004
rs1557135004 		1.000 0.080 X 154030479 frameshift variant -/A 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 4 2000 2013
dbSNP: rs1557136549
rs1557136549 		1.000 0.080 X 154031079 frameshift variant -/A ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1557137871
rs1557137871 		1.000 0.080 X 154032368 frameshift variant -/A ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608482
rs267608482 		1.000 0.080 X 154031357 frameshift variant -/A delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608624
rs267608624 		1.000 0.080 X 154030507 frameshift variant -/A delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61748398
rs61748398 		1.000 0.080 X 154031399 frameshift variant -/A ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61749728
rs61749728 		1.000 0.080 X 154031207 frameshift variant -/A delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61753011
rs61753011 		1.000 0.080 X 154030633 frameshift variant -/A ins 1.7E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs786205021
rs786205021 		1.000 0.080 X 154030647 frameshift variant -/A ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608584
rs267608584 		1.000 0.080 X 154030670 frameshift variant -/AG delins 1.2E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61749749
rs61749749 		1.000 0.080 X 154031091 frameshift variant -/AT ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045695
rs797045695 		1.000 0.080 X 154031156 frameshift variant -/ATCTTGA delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608503
rs267608503 		1.000 0.080 X 154031226 frameshift variant -/C delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608614
rs267608614 		1.000 0.080 X 154030625 frameshift variant -/C delins 1.1E-05; 5.7E-06; 5.7E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs61754430
rs61754430 		1.000 0.080 X 154032457 frameshift variant -/C delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs786205038
rs786205038 		1.000 0.080 X 154097638 frameshift variant -/CGGCG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060499620
rs1060499620 		1.000 0.080 X 154030803 frameshift variant -/CT ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs63749008
rs63749008 		1.000 0.080 X 154032541 frameshift variant -/CTGACTTT delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519404
rs1057519404 		1.000 0.080 X 154030716 frameshift variant -/G delins
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519404
rs1057519404 		1.000 0.080 X 154030716 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1557135929
rs1557135929 		1.000 0.080 X 154030740 frameshift variant -/G ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608443
rs267608443 		1.000 0.080 X 154032340 frameshift variant -/G delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608518
rs267608518 		1.000 0.080 X 154031107 frameshift variant -/G delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608612
rs267608612 		1.000 0.080 X 154030630 frameshift variant -/G delins 5.7E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267608613
rs267608613 		1.000 0.080 X 154030627 frameshift variant -/G delins 5.7E-06; 1.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0