List of variants reported as pathogenic for Pitt-Hopkins syndrome by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

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

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)	rs1057521070
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	rs121909123
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	rs121909121
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)	rs797046035
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)	rs587784469

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.