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: rs80359636
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 6 2005 2013
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: rs1064794254
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2007 2012
dbSNP: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 1999 2003
dbSNP: rs180177038
rs180177038
BRAF
0.851 0.200 7 140778007 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2006 2009
dbSNP: rs397507476
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2006 2009
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
dbSNP: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2013 2014
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
dbSNP: rs1568303086
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2011 2014
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2012 2015
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: 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: 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: 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: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057519566
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057519567
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1114167303
rs1114167303
SON
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135402760
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1287121256
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019