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: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 1.000 42 1999 2017
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1993 2016
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 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 10 1999 2016
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 1.000 6 2000 2010
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.700 1.000 6 2000 2010
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.710 1.000 6 2000 2019
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 1.000 6 2000 2010
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C4022848
Disease: EEG with centrotemporal focal spike waves
EEG with centrotemporal focal spike waves 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0003578
Disease: Apnea
Apnea 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0006325
Disease: Bruxism
Bruxism 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0542223
Disease: Loss of speech
Loss of speech 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 0