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: 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
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: rs1060499776
rs1060499776
MTO1
6 73497766 missense variant T/A;G 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: rs1060499779
rs1060499779
VPS13B ; VPS13B-DT
8 99013791 start lost G/A snv
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: rs138686233
rs138686233
ASTN1
1 176945951 missense variant C/G;T snv 4.2E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs139912214
rs139912214
STIL
1 47281003 missense variant C/G snv 2.2E-03 1.9E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1445957469
rs1445957469
TMEM237
1.000 2 201639047 splice acceptor variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
1.000 0.200 12 88118660 stop gained G/A;C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs146732064
rs146732064
HADH
4 108014518 missense variant G/C;T snv 3.0E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs147099630
rs147099630
SACS
13 23339410 missense variant T/C snv 9.4E-03 5.7E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs147455037
rs147455037
PLA2G6
22 38113560 missense variant C/T snv 8.0E-06; 4.8E-05 9.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1482303814
rs1482303814
CPLANE1
1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs150304757
rs150304757
SYNE1
6 152244534 splice region variant C/T snv 3.9E-03 8.8E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
0.925 0.080 1 22086507 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0