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: 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: rs1555985372
rs1555985372
PCDH19
1.000 X 100407591 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 2008 2017
dbSNP: rs1555985372
rs1555985372
PCDH19
1.000 X 100407591 frameshift variant -/C delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 2008 2017
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: rs1569315842
rs1569315842
PCDH19
1.000 0.080 X 100408107 frameshift variant -/G delins
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.700 0
dbSNP: rs1555985416
rs1555985416
PCDH19
1.000 0.200 X 100407718 frameshift variant -/GGTCG delins
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: rs1569315156
rs1569315156
PCDH19
1.000 0.200 X 100407604 frameshift variant C/- 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: rs132630326
rs132630326
PCDH19
1.000 0.200 X 100408456 stop gained C/A;T snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs1555985780
rs1555985780
PCDH19
1.000 0.200 X 100408330 missense variant C/G snv
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
dbSNP: rs796052828
rs796052828
PCDH19
1.000 0.200 X 100407536 frameshift variant CACT/- delins
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.700 0
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: rs1555985543
rs1555985543
PCDH19
1.000 0.200 X 100407979 frameshift variant G/- delins
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: 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: 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
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.700 0