Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv 5
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
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv 6
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
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins 6
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv 7