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: 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: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
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: rs1553654413
rs1553654413
ITPR1
0.925 0.240 3 4627877 splice region variant CGTA/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2018 2018
dbSNP: rs767961672
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2016 2016
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: 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: 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: 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: rs796053439
rs796053439
TPP1
0.925 0.240 11 6616714 missense variant T/C;G snv 4.0E-06; 4.0E-06
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: rs869312672
rs869312672
SMC3
0.925 0.200 10 110577847 missense variant G/A 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
dbSNP: rs869312689
rs869312689
ZBTB18
0.925 0.160 1 244053934 missense variant T/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312698
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312699
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312700
rs869312700
FOXG1
0.925 0.200 14 28768100 missense variant G/A snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
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