Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. 28462982

2017
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Male patients affected by mosaic PCDH19 mutations: five new cases. 28669061

2017
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041

2016
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483

2016
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240

2012
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748

2012
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR PCDH19 mutation in Japanese females with epilepsy. 22050978

2012
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371

2011
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. 21519002

2011
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR The genetics of Dravet syndrome. 21463275

2011
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887

2011
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952

2010
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159

2010
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208

2009
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813

2008
dbSNP: rs1555985372
rs1555985372
PCDH19
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		AC 0.700 CausalMutation CLINVAR Epilepsy and mental retardation limited to females: an under-recognized disorder. 18234694

2008