Variants with conflicting interpretations "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "uncertain significance" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:		Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
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_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	rs104894293	0.00004
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)	rs587777308
NM_001165963.4(SCN1A):c.602+1G>A
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser)	rs1267383375
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	rs886041715
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
Single allele

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.