Variants with conflicting interpretations "uncertain significance" from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel and "likely pathogenic" from any submitter

Minimum review status of the submission from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel:		Collection method of the submission from ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel:
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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)	rs144155165	0.00005
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)	rs543360994	0.00004
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663	0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)	rs534192892	0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	rs1403885484	0.00001
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)	rs776008078
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)	rs1555600235
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)	rs1555601633
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)	rs398123172
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)	rs1555601773
NM_000152.5(GAA):c.2799+2C>A	rs1555603318
NM_000152.5(GAA):c.546+5G>T	rs756024023
NM_000152.5(GAA):c.710C>T (p.Ala237Val)	rs121907944

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.