List of variants reported as uncertain significance for Motor neuron disease by Centre for Genomic and Experimental Medicine, University of Edinburgh

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	rs34324114	0.00417
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	rs189186475	0.00227
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	rs200161705	0.00216
NM_001199397.3(NEK1):c.1750-5T>C	rs199522035	0.00018
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	rs779715292	0.00004
NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)	rs748864346	0.00001
NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly)	rs1131690780
NM_001199397.3(NEK1):c.1911_1912insTATA (p.Ala638fs)	rs1131690779
NM_001199397.3(NEK1):c.827G>T (p.Cys276Phe)	rs1131690776
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)	rs147795017

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.