List of variants in gene PHF8 reported as uncertain significance for X-linked syndromic intellectual disability

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015107.3(PHF8):c.2117A>G (p.Tyr706Cys)	rs782680617	0.00003
NM_015107.3(PHF8):c.-56C>T	rs376594438	0.00002
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe)	rs1342892989	0.00002
NM_015107.3(PHF8):c.1731-2A>G	rs1437750762	0.00001
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln)	rs1263803925	0.00001
NM_015107.3(PHF8):c.-63C>A	rs781976643
NM_015107.3(PHF8):c.1185T>C (p.His395=)	rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg)	rs2065708006
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
NM_015107.3(PHF8):c.1620del (p.Ala541fs)	rs2149839580
NM_015107.3(PHF8):c.197G>A (p.Arg66His)	rs1557110261
NM_015107.3(PHF8):c.2129+39G>C	rs2065554551
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro)	rs782358977
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln)	rs2149796421
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
NM_015107.3(PHF8):c.865A>T (p.Asn289Tyr)

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.