Variants with conflicting interpretations "likely pathogenic" from Center for Molecular Medicine, Children’s Hospital of Fudan University and "pathogenic" from any submitter

Minimum review status of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University:		Collection method of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University:
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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)	rs758609113	0.00002
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)	rs121918188	0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)	rs780803192	0.00001
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	rs747762186
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)	rs1368099067
NM_000507.4(FBP1):c.704del (p.Pro235fs)	rs774362519
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001367916.1(MAGT1):c.490G>T (p.Glu164Ter)	rs2149018425
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)	rs146027425
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)	rs1580394197

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.