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: rs199422125
rs199422125
MCPH1
0.925 0.120 8 6436147 frameshift variant -/A delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs397515352
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2013 2013
dbSNP: rs1060499775
rs1060499775
ITGA7
12 55707550 frameshift variant -/T ins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1554226470
rs1554226470
SNX14
6 85533736 frameshift variant -/T delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499743
rs1060499743
ARHGAP21
10 24596030 missense variant A/C 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: 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: 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: rs1060499777
rs1060499777
NGLY1
3 25764244 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499778
rs1060499778
PTCHD1
X 23379781 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1555728965
rs1555728965
NOTCH3
0.925 0.080 19 15188277 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
0.925 0.120 1 40092486 stop gained A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs775295739
rs775295739
RARS2
6 87518718 missense variant A/C;G snv 6.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs672601372
rs672601372
RARS1
0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2017
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: rs762135776
rs762135776
PTPRT
20 42885815 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs775271588
rs775271588
CACNA1H
16 1220830 missense variant A/G snv 6.4E-05 1.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs374879755
rs374879755
MXRA8
1 1353913 missense variant A/G;T snv 1.2E-05
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: rs1562374476
rs1562374476
SNX14
1.000 6 85572333 stop gained A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1568018920
rs1568018920
RAC3
17 82032785 missense variant A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs763757845
rs763757845
FAM222A ; FAM222A-AS1
12 109768213 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs11300320
rs11300320
GALC
14 87950752 intron variant AA/-;A;AAA delins 0.96
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: rs1557966012
rs1557966012
ASPM
1.000 0.120 1 197143564 frameshift variant C/- del
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0