Source: CURATED

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: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1135401761
rs1135401761
AHDC1
0.925 0.200 1 27548302 stop gained G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs122445099
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs730882202
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs397514627
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2018 2018
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 1989 2017
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1555954284
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1555321402
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs112795301
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2019 2019
dbSNP: rs1057521721
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1555103652
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06
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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		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
dbSNP: rs1556978515
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1557006903
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T 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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1557036757
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0