ClinVar Miner

List of variants reported as likely pathogenic for Beckwith-Wiedemann syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000076.2(CDKN1C):c.752_763delCGGCCGGCACCGinsGTGC (p.Ala251Glyfs) rs1554937726
NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met)
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp)
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690

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.