List of variants in gene SMN1 reported as pathogenic for Kugelberg-Welander disease

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: 14

Download table as spreadsheet

HGVS	dbSNP
NM_000344.3(SMN1):c.131A>T (p.Asp44Val)	rs104893931
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg)	rs104893927
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter)	rs77804083
NM_000344.3(SMN1):c.388T>C (p.Tyr130His)	rs397514518
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys)	rs397514517
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly)	rs1554066397
NM_000344.3(SMN1):c.724-2A>G	rs1561500842
NM_000344.3(SMN1):c.784A>G (p.Ser262Gly)	rs104893932
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile)	rs1554066666
NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs)	rs77668214
SMN1, DEL
SMN1, EX8DEL
SMN1, IVS7DS, T-G, +6

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.