Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv 4
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs1085308049
PTEN
0.925 0.080 10 87957885 stop gained A/T snv 3
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins 7
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs1085308053
PTEN
0.882 0.080 10 87952230 missense variant C/T snv 5
rs1085308054
PTEN
0.827 0.160 10 87952231 frameshift variant AT/- delins 7
rs1085308055
PTEN
0.882 0.120 10 87952240 frameshift variant TCAGT/- delins 4