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: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.870 1.000 22 1999 2017
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 9 2000 2016
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.700 0