Variants with conflicting interpretations "pathogenic" from Centre for Human Genetics and "likely pathogenic" from any submitter

Minimum review status of the submission from Centre for Human Genetics:		Collection method of the submission from Centre for Human Genetics:
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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)	rs1601781024
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)	rs1057516567
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)	rs762602838
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)	rs1592107594

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.