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: rs1556038028
rs1556038028
NHS
X 17724421 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2002 2014
dbSNP: rs1556039406
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2002 2014
dbSNP: rs1556039406
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2002 2014
dbSNP: rs132630322
rs132630322
NHS
1.000 0.120 X 17724370 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 1.000 3 2003 2014
dbSNP: rs111534978
rs111534978
NHS
1.000 0.200 X 17727793 stop gained C/A;T snv 4.4E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs864309679
rs864309679
NHS
1.000 0.200 X 17726875 frameshift variant G/- delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs104894881
rs104894881
NHS
1.000 0.120 X 17375872 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1341004065
rs1341004065
NHS
1.000 0.120 X 17376034 stop gained G/A;T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1481421967
rs1481421967
NHS
1.000 0.120 X 17731956 missense variant C/G;T snv 5.5E-06
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1556030707
rs1556030707
NHS
1.000 0.120 X 17687893 splice donor variant -/G delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1556038355
rs1556038355
NHS
1.000 0.120 X 17725566 frameshift variant GACA/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1556039901
rs1556039901
NHS
1.000 0.120 X 17728262 stop gained A/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1569310232
rs1569310232
NHS
1.000 0.120 X 17692358 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1569310288
rs1569310288
NHS
1.000 0.120 X 17692430 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs1569319773
rs1569319773
NHS
1.000 0.120 X 17726583 stop gained G/A snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs786205255
rs786205255
NHS
1.000 0.120 X 17726555 frameshift variant -/C delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs786205256
rs786205256
NHS
1.000 0.120 X 17727627 frameshift variant C/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs786205257
rs786205257
NHS
1.000 0.120 X 17721439 splice acceptor variant A/G snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs786205677
rs786205677
NHS
1.000 0.120 X 17692468 splice donor variant G/- delins
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs875989805
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		0.700 0
dbSNP: rs875989805
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs875989805
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.700 0
dbSNP: rs875989805
rs875989805
NHS
0.925 0.120 X 17687870 stop gained C/T snv
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 0