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: rs730882187
rs730882187
SLC9A6
1.000 0.280 X 135998188 splice region variant AA/CC mnv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs886037619
rs886037619
SLC9A6
1.000 0.280 X 136002171 inframe deletion AAAGTG/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs730882188
rs730882188
SLC9A6
1.000 0.280 X 135998486 frameshift variant AT/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs122461162
rs122461162
SLC9A6
1.000 0.280 X 136024365 stop gained C/T snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs587784398
rs587784398
SLC9A6
1.000 0.280 X 135985685 frameshift variant G/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs1556617455
rs1556617455
SLC9A6
1.000 0.280 X 136002214 splice donor variant G/A snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 1.000 1 2008 2008
dbSNP: rs1569525357
rs1569525357
SLC9A6
1.000 0.280 X 136024339 missense variant G/A snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs398123003
rs398123003
SLC9A6
1.000 0.280 X 136030154 stop gained G/T snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs398122849
rs398122849
SLC9A6
1.000 0.280 X 136010554 inframe deletion GGTGCTGCT/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 0
dbSNP: rs1057519394
rs1057519394
SLC9A6
1.000 0.280 X 136002195 frameshift variant T/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519394
rs1057519394
SLC9A6
1.000 0.280 X 136002195 frameshift variant T/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs587784399
rs587784399
SLC9A6
1.000 0.280 X 136044696 stop gained T/G snv
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0