List of variants in gene NBEAL2 reported as pathogenic for gray platelet 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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.4485-1G>T	rs763842878	0.00001
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro)	rs387907113
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)	rs781366964
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)	rs2036418481
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter)	rs1172581672
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)	rs1553659758
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter)	rs794726682
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val)	rs387907114
NM_015175.3(NBEAL2):c.2650-1G>A	rs2036570687
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter)	rs387907112
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)	rs2036579205
NM_015175.3(NBEAL2):c.3118+2T>G	rs1349443190
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)	rs1553663498
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)	rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)	rs2037048154
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)	rs794726683
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs)	rs2107416290
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)	rs1575592157
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu)	rs387907115
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)	rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)	rs2037363765
NM_015175.3(NBEAL2):c.6920-1G>C	rs2037428827
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)	rs2037501401
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter)	rs1575629721
NM_015175.3(NBEAL2):c.7460_7461del (p.Thr2487fs)
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)	rs2037558268
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter)	rs372277612

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.