Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518926
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692228
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692270
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs121908216
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs132630297
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0