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: rs869312664
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312704
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs875989830
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs878853163
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1553798675
rs1553798675
FGF12
0.925 0.080 3 192335441 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2016 2016
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: 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: 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: 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: rs147682682
rs147682682
MITF
1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1559470315
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs202160208
rs202160208
GMPPB
0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs371582179
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs397509426
rs397509426
GMPPB
0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs72555360
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312685
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C 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: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs886041097
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1287121256
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2017 2017