Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs786202918
PTEN
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 6
rs786204875
PTEN
0.882 0.120 10 87960913 stop gained G/A;T snv 4
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12