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: rs137852816
rs137852816
CASK
0.925 0.160 X 41853204 missense variant C/A snv
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.800 1.000 0 2009 2009
dbSNP: rs137852818
rs137852818
CASK
0.925 0.200 X 41542717 missense variant T/C snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.800 1.000 0 2008 2009
dbSNP: rs137852820
rs137852820
CASK
0.925 0.200 X 41589562 missense variant G/A;C snv 6.0E-05
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.800 1.000 0 2008 2009
dbSNP: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2008 2015
dbSNP: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2008 2015
dbSNP: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 13 2008 2015
dbSNP: rs727505397
rs727505397
CASK
0.882 0.240 X 41553782 missense variant C/T snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 1.000 2 2008 2012
dbSNP: rs794727270
rs794727270
CASK
1.000 0.120 X 41853208 stop gained G/A snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 1.000 1 2012 2012
dbSNP: rs1114167352
rs1114167352
CASK
1.000 0.120 X 41578378 missense variant G/A snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs1135401762
rs1135401762
CASK
1.000 0.120 X 41853219 frameshift variant A/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401762
rs1135401762
CASK
1.000 0.120 X 41853219 frameshift variant A/- delins
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs137852815
rs137852815
CASK
1.000 0.120 X 41553843 stop gained G/A snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs137852817
rs137852817
CASK
0.925 0.200 X 41660468 missense variant A/G snv
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.700 0
dbSNP: rs137852818
rs137852818
CASK
0.925 0.200 X 41542717 missense variant T/C snv
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.700 0
dbSNP: rs137852819
rs137852819
CASK
1.000 0.160 X 41520446 missense variant A/G snv
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.700 0
dbSNP: rs137852820
rs137852820
CASK
0.925 0.200 X 41589562 missense variant G/A;C snv 6.0E-05
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		0.700 0
dbSNP: rs1555972599
rs1555972599
CASK
1.000 0.120 X 41523950 splice donor variant C/A snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs1555972628
rs1555972628
CASK
1.000 0.120 X 41524005 frameshift variant AA/- delins
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs1555975458
rs1555975458
CASK
1.000 0.120 X 41534705 splice donor variant C/T snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		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
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0
dbSNP: rs1555977199
rs1555977199
CASK
1.000 0.120 X 41542690 splice donor variant C/G snv
CUI: C2677903
Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 		0.700 0