List of variants in gene HPS4 reported as likely benign for Hermansky-Pudlak syndrome with pulmonary fibrosis

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=)	rs386820399
NM_152841.2(HPS4):c.1868G>A (p.Arg623His)	rs78892693
NM_152841.2(HPS4):c.235A>G (p.Ile79Val)	rs149830675
NM_152841.2(HPS4):c.695C>T (p.Ala232Val)	rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser)	rs34962745

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.