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: rs1556909287
rs1556909287
HUWE1
1.000 0.240 X 53534101 missense variant C/G snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 1.000 1 2016 2016
dbSNP: rs1057518704
rs1057518704
HUWE1
1.000 0.240 X 53595328 missense variant C/T snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1057520538
rs1057520538
HUWE1
1.000 0.240 X 53647391 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: rs121918525
rs121918525
HUWE1
1.000 0.240 X 53537656 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: rs121918526
rs121918526
HUWE1
1.000 0.240 X 53551420 missense variant C/T snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs121918527
rs121918527
HUWE1
1.000 0.240 X 53535474 missense variant G/A snv 1.9E-05
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1556910184
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G 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: 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: rs1556955128
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1556955128
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0
dbSNP: rs1556955128
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		0.700 0