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: rs1567815105
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253745
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253747
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253856
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879255529
rs879255529
ARID2 ; LOC105369745
1.000 0.160 12 45848963 frameshift variant T/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1568359734
rs1568359734
ASXL3
0.827 0.240 18 33738903 frameshift variant A/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs797045412
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1135402760
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2019 2019
dbSNP: rs121908216
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs397517077
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs201111299
rs201111299
CENPJ
0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs759188041
rs759188041
CENPJ
0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312877
rs869312877
CHD2
0.925 0.160 15 92997299 frameshift variant -/G delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs144078282
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs200203460
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
0.827 0.160 9 128203609 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs886041093
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0