Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv 6
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins 7
rs1085308054
PTEN
0.827 0.160 10 87952231 frameshift variant AT/- delins 7
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv 7
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6