List of variants in gene B3GALNT2 reported as likely pathogenic for congenital nervous system disorder

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_152490.5(B3GALNT2):c.169G>A (p.Val57Met)	rs142756842	0.00016
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)	rs753340395	0.00004
NM_152490.5(B3GALNT2):c.1311+1G>C	rs1379052702	0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	rs367543072	0.00001
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274	0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	rs367543074	0.00001
NM_152490.5(B3GALNT2):c.842-1G>A	rs764784497	0.00001
NC_000001.10:g.(?_235634154)_(235647841_?)dup
NM_152490.5(B3GALNT2):c.113-1G>C	rs2102863392
NM_152490.5(B3GALNT2):c.1311+1G>A	rs1379052702
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter)	rs2102780481
NM_152490.5(B3GALNT2):c.362-1G>C	rs2102844404
NM_152490.5(B3GALNT2):c.652-2A>G	rs1553347936
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	rs367543073
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)	rs367543075
NM_152490.5(B3GALNT2):c.841+1G>T
NM_152490.5(B3GALNT2):c.842-1G>C	rs764784497
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	rs367543076

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.