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: rs587777819
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: 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
dbSNP: rs1563764078
rs1563764078
VLDLR
1.000 0.160 9 2648349 splice donor variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs772574530
rs772574530
GLDC
9 6533142 missense variant T/C snv 2.0E-05 1.4E-05
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: 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: rs398122967
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
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: 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: rs180177135
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs312262830
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2008 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs1060499737
rs1060499737
DHX37
12 124968903 missense variant G/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1559122277
rs1559122277
BBS5
1.000 2 169488115 splice donor variant G/T 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: rs200618384
rs200618384
PRUNE1
1.000 1 151024795 stop gained G/C;T 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