Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.760 1.000 21 2000 2016
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1993 2016
dbSNP: rs61750240
rs61750240
MECP2
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: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 19 1993 2016
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 8 2000 2013
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1866284
Disease: Motor deterioration
Motor deterioration 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0542223
Disease: Loss of speech
Loss of speech 		0.700 0
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0