Variants with conflicting interpretations "likely pathogenic" from Houlden Lab, UCL Institute of Neurology and "pathogenic" from any submitter

Minimum review status of the submission from Houlden Lab, UCL Institute of Neurology:		Collection method of the submission from Houlden Lab, UCL Institute of Neurology:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	rs1372719653	0.00002
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)	rs1060499738	0.00001
NM_025150.5(TARS2):c.387+6T>C	rs1064797119	0.00001
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)	rs1064797120

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.