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: rs1554558365
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs552184470
rs552184470
GUCY2D
1.000 0.080 17 8003171 inframe deletion TCTGCT/- delins 1.8E-03 1.9E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs748309520
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs1488635637
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs398122845
rs398122845
CASK
1.000 0.080 X 41524036 splice acceptor variant T/A;C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2018 2018
dbSNP: rs1057518787
rs1057518787
GPR143
0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1217391623
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1553281318
rs1553281318
COQ8A
0.882 0.120 1 226986536 frameshift variant -/A delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs730882209
rs730882209
SETX
0.925 0.080 9 132326375 frameshift variant -/C delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs775796581
rs775796581
CNGB3
0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0