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: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.658 0.560 11 534285 missense variant C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2005 2005
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2006 2011
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057516033
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057516037
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057516038
rs1057516038
KIAA0586
0.925 14 58444158 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057516049
rs1057516049
KAT6A
0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057516264
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.710 1.000 1 2016 2016
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518699
rs1057518699
LAS1L
0.925 0.200 X 65524113 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
1.000 15 25354536 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518776
rs1057518776
DYNC1H1
0.925 0.080 14 101986027 missense variant T/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518789
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518848
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518849
rs1057518849
EHMT1
0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518853
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518864
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0