Disease: Delayed speech and language development
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 9
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv 7
rs1554121875
CAMK2A
0.882 0.040 5 150250281 missense variant T/C snv 7
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1554122129
CAMK2A
0.882 0.040 5 150252032 missense variant T/A snv 6
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs587782991
PURA
0.882 0.080 5 140114991 inframe deletion TCT/- delins 6
rs587782992
PURA
0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 5
rs587782993
PURA
0.882 0.080 5 140114737 stop gained C/T snv 6
rs587782994
PURA
0.882 0.080 5 140114470 missense variant A/G snv 6
rs587782996
PURA
0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 5
rs587782997
PURA
0.925 0.080 5 140114964 stop gained C/G snv 5
rs587782998
PURA
0.882 0.080 5 140114651 missense variant T/A snv 4
rs587782999
PURA
0.882 0.080 5 140114446 missense variant G/A;C snv 5