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: 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
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: rs267607048
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs281875196
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs371582179
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05
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: 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: rs56144125
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs72555360
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs757600616
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-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: rs773685207
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs774694340
rs774694340
SNX14
0.882 0.200 6 85508043 frameshift variant A/- del 6.4E-05 1.4E-05
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