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: rs1060499745
rs1060499745
CDK10
16 89694721 missense variant C/G;T snv 5.1E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499746
rs1060499746
GTF3C1
16 27481179 missense variant C/G;T snv 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499747
rs1060499747
HELZ
17 67128716 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499748
rs1060499748
KLHL15
X 23988262 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499749
rs1060499749
PTPRT
20 42352288 splice region variant G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499750
rs1060499750
SLITRK5
13 87677903 missense variant G/C snv 4.1E-06 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499751
rs1060499751
SNAPIN
1 153659157 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499752
rs1060499752
TTC1 ; PWWP2A
5 160064970 missense variant T/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499753
rs1060499753
UBQLN1
9 83683022 frameshift variant T/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499754
rs1060499754
ULK2
17 19797472 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
5 126577158 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 113897860 stop gained C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499761
rs1060499761
GALC
14 87934803 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499762
rs1060499762
LARP7 ; MIR367 ; MIR302CHG
4 112647384 stop gained A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499763
rs1060499763
PIGN
1.000 18 62140447 missense variant A/C snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499764
rs1060499764
PLA2G6
22 38120861 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499765
rs1060499765
PLCB1
20 8737163 missense variant T/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499766
rs1060499766
POMT2
14 77306344 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499768
rs1060499768
SPG11
1.000 0.080 15 44584505 frameshift variant T/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499769
rs1060499769
SYNE1
6 152354858 missense variant C/T snv 1.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499770
rs1060499770
ZEB2
2 144429823 frameshift variant ACCCTCC/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 113900063 missense variant A/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499772
rs1060499772
DARS1
2 135943412 missense variant C/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499773
rs1060499773
EPB41L1
20 36209731 missense variant C/T snv 2.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499774
rs1060499774
GRIP1
12 66455465 missense variant C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0