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: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1057518963
rs1057518963
OPHN1
0.851 0.200 X 68210239 missense variant A/G snv
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.700 0
dbSNP: rs137854493
rs137854493
OPHN1
1.000 0.080 X 68299067 stop gained G/A snv
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs1569211016
rs1569211016
OPHN1
1.000 0.080 X 68096977 frameshift variant T/- delins
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs1569243931
rs1569243931
OPHN1
1.000 0.080 X 68210232 frameshift variant -/AAGTTCTT delins
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs1569244467
rs1569244467
OPHN1
1.000 0.080 X 68212165 frameshift variant CA/- delins
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs587784234
rs587784234
OPHN1
1.000 0.080 X 68213963 stop gained G/A snv
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs869312676
rs869312676
OPHN1
0.882 0.240 X 68063977 missense variant C/T snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		0.700 0
dbSNP: rs869312676
rs869312676
OPHN1
0.882 0.240 X 68063977 missense variant C/T snv
CUI: C1845366
Disease: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 		0.700 0
dbSNP: rs869312676
rs869312676
OPHN1
0.882 0.240 X 68063977 missense variant C/T snv
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		0.700 0