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: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1556913258
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556913268
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0