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: rs1057518707
rs1057518707
DDX3X
1.000 X 41345206 missense variant G/A snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 1.000 1 2015 2015
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs796052231
rs796052231
DDX3X
1.000 X 41345280 missense variant C/T snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs796052235
rs796052235
DDX3X
1.000 X 41346376 missense variant G/A snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs797045024
rs797045024
DDX3X
1.000 X 41346527 missense variant T/C snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs797045025
rs797045025
DDX3X
0.925 X 41344351 missense variant G/A snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs797045026
rs797045026
DDX3X
1.000 X 41345238 missense variant C/T snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 16 1989 2017
dbSNP: rs1131691608
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 16 1989 2017
dbSNP: rs1131691608
rs1131691608
DDX3X
1.000 X 41346503 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1255183431
rs1255183431
DDX3X
X 41344238 splice acceptor variant G/C;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 16 1989 2017
dbSNP: rs1555952710
rs1555952710
DDX3X
1.000 X 41341617 splice donor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555952710
rs1555952710
DDX3X
1.000 X 41341617 splice donor variant G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 16 1989 2017
dbSNP: rs1555953166
rs1555953166
DDX3X
1.000 X 41343288 splice acceptor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1555953166
rs1555953166
DDX3X
1.000 X 41343288 splice acceptor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555953548
rs1555953548
DDX3X
1.000 X 41344350 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1555953548
rs1555953548
DDX3X
1.000 X 41344350 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555953882
rs1555953882
DDX3X
1.000 X 41345507 frameshift variant GACA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017