ClinVar Miner

List of variants in gene NSD2 reported as pathogenic for chromosome 4 short arm deletion

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) rs1560696317
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter) rs1725000714
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs) rs2108971782
NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) rs1560602800
NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) rs1560635105
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.