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: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06
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: rs144078282
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs150726175
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04
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: rs200203460
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
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: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs758361736
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 2 2013 2014
dbSNP: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
0.790 0.160 5 62361307 missense variant G/A snv
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: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs142285818
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04
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: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
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: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2014 2014
dbSNP: rs869312824
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016
dbSNP: rs1135402761
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0