Disease: Global developmental delay
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv 11
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 7
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37