List of variants in gene FIG4 reported as uncertain significance for Yunis-Varon syndrome

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	rs138048706	0.00029
NM_014845.6(FIG4):c.1751-16A>G	rs200778905	0.00026
NM_014845.6(FIG4):c.2096G>A (p.Arg699His)	rs750091928	0.00007
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys)	rs764799053	0.00004
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)	rs587777713	0.00002
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)	rs774499394	0.00001
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys)	rs754970037	0.00001
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs)	rs397509394
NM_014845.6(FIG4):c.1583+1G>T	rs781622824
NM_014845.6(FIG4):c.1750+1del	rs764770160
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)	rs750712213
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val)	rs587777716
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg)	rs1583671246

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.