List of variants in gene PCDH19 reported as pathogenic for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs)	rs1555985372
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr)	rs1555985368
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)	rs796052839
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)	rs758946412
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)	rs756414485
NM_001184880.2(PCDH19):c.2675+1G>A
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs)	rs1569315950
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)	rs796052837
NM_001184880.2(PCDH19):c.582del (p.Ser195fs)
NM_001184880.2(PCDH19):c.768dup (p.Val257fs)	rs1569315508
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter)	rs1569315231
NM_001184880.2(PCDH19):c.994del (p.Val332fs)	rs1569315156

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.