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: rs191333060
rs191333060
PCDH19
1.000 0.040 X 100296405 missense variant G/A;C snv 1.3E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs1555984453
rs1555984453
PCDH19
1.000 0.200 X 100402687 frameshift variant T/- del
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs796052836
rs796052836
PCDH19
1.000 0.200 X 100402741 frameshift variant T/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs1060502175
rs1060502175
PCDH19
1.000 0.200 X 100402799 frameshift variant T/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs779136255
rs779136255
PCDH19
1.000 0.200 X 100403522 coding sequence variant -/CTCTTTCCCCTTAGGCTCACTTTCTCC delins 5.8E-06 1.9E-05
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs1569314152
rs1569314152
PCDH19
1.000 0.200 X 100406567 frameshift variant -/A delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs132630325
rs132630325
PCDH19
1.000 0.200 X 100406586 stop gained G/C snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs1057521256
rs1057521256
PCDH19
1.000 0.200 X 100406783 stop gained G/A;C snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs201989363
rs201989363
PCDH19
1.000 0.200 X 100406898 missense variant G/A;C;T snv 4.4E-05
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 1.000 0 2008 2016
dbSNP: rs1569314475
rs1569314475
PCDH19
1.000 0.200 X 100406922 frameshift variant T/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs267606933
rs267606933
PCDH19
1.000 0.200 X 100406927 missense variant G/A;C snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 1.000 0 2008 2016
dbSNP: rs1555985105
rs1555985105
PCDH19
1.000 0.200 X 100407043 stop gained G/A snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs1131691646
rs1131691646
PCDH19
1.000 0.200 X 100407077 frameshift variant G/-;GG delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 1.000 2 2010 2012
dbSNP: rs1555985163
rs1555985163
PCDH19
1.000 0.200 X 100407150 frameshift variant CCAGGTC/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs1569314809
rs1569314809
PCDH19
1.000 0.200 X 100407256 missense variant C/A snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs132630323
rs132630323
PCDH19
1.000 0.200 X 100407276 missense variant A/T snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.800 0
dbSNP: rs769967221
rs769967221
PCDH19
1.000 0.200 X 100407415 stop gained G/A;T snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs1569315042
rs1569315042
PCDH19
1.000 0.200 X 100407476 frameshift variant GA/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs796052812
rs796052812
PCDH19
1.000 0.200 X 100407484 missense variant G/A snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 1.000 6 2008 2017
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.700 0