Variants in gene CLN6 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	rs154774640	0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00002
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	rs746753722	0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	rs758921701	0.00001
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)	rs2093262869
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017882.3(CLN6):c.890del (p.Pro297fs)	rs154774639

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.