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: 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: rs1554297905
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2018 2018
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs869312667
rs869312667
NBEA
1.000 0.160 13 35157262 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: rs534517447
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs777843533
rs777843533
ZMIZ1
0.925 0.160 10 79307487 frameshift variant -/C delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs794726710
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs794727870
rs794727870
SLC2A1
0.925 0.160 1 42929244 missense variant G/A;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
0.827 0.160 6 43007265 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312660
rs869312660
HDAC8
0.925 0.160 X 72488932 splice donor variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312670
rs869312670
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.160 2 166013745 frameshift variant A/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312677
rs869312677
SYNGAP1
0.925 0.160 6 33446780 frameshift variant TTGGCAG/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312678
rs869312678
TCF20
0.925 0.160 22 42209920 frameshift variant CA/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0