List of variants in gene NSD2 reported as pathogenic for Rauch-Steindl 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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042424.3(NSD2):c.1103_1104del (p.Glu368fs)	rs2474340960
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter)	rs2108805626
NM_001042424.3(NSD2):c.1577dup (p.Asn527fs)	rs2108877068
NM_001042424.3(NSD2):c.1641_1642del (p.Arg548fs)	rs1577484648
NM_001042424.3(NSD2):c.1642dup (p.Arg548fs)	rs1577484648
NM_001042424.3(NSD2):c.1798C>T (p.Arg600Ter)
NM_001042424.3(NSD2):c.1947_1948del (p.Glu650fs)	rs2108940433
NM_001042424.3(NSD2):c.2277C>A (p.Cys759Ter)	rs574794395
NM_001042424.3(NSD2):c.2518+1G>A	rs2474633301
NM_001042424.3(NSD2):c.2714C>T (p.Pro905Leu)	rs2474638543
NM_001042424.3(NSD2):c.2803C>T (p.Arg935Ter)	rs2108959336
NM_001042424.3(NSD2):c.28dup (p.Leu10fs)	rs1717034691
NM_001042424.3(NSD2):c.3056A>G (p.Lys1019Arg)	rs2108971327
NM_001042424.3(NSD2):c.3410C>T (p.Ser1137Phe)	rs2109020378
NM_001042424.3(NSD2):c.3412C>T (p.Arg1138Ter)	rs1726909627
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs)	rs752037034
NM_133330.3(NSD2):c.1676_1679del	rs1553873247

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.