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: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1057519561
rs1057519561
SNX14
0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1060499626
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv
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: 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: rs1135402761
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs119103286
rs119103286
TTC8
0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
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: rs1305542291
rs1305542291
SCAPER
0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs139194636
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1395475624
rs1395475624
SCAPER
0.882 0.160 15 76753813 inframe deletion CTT/- delins
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: 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: rs145465528
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1553546045
rs1553546045
PTH2R
0.925 0.200 2 208442425 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs1555013332
rs1555013332
SHANK2
0.882 0.160 11 70661635 frameshift variant -/T delins
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: rs1564341846
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
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: 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: rs1569146993
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins
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