Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
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
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 11
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 10
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv 8
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins 7