List of variants in gene CLN6 reported as pathogenic for adult neuronal ceroid lipofuscinosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T	rs149692285	0.01339
NM_017882.3(CLN6):c.755G>A (p.Arg252His)	rs374681194	0.00004
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	rs154774634	0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	rs150363441	0.00002
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)	rs146782642	0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	rs201095412	0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)	rs752212030	0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	rs746753722	0.00001
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)	rs1381427322	0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	rs758921701	0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	rs750937323	0.00001
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)	rs154774636
NM_017882.3(CLN6):c.185G>A (p.Arg62His)	rs751486476
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)	rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	rs104894483
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup)	rs2141141533
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn)	rs1567096598
NM_017882.3(CLN6):c.268_271dup (p.Val91fs)	rs786205067
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)
NM_017882.3(CLN6):c.316dup (p.Arg106fs)	rs397515352
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	rs774543080
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)	rs1012449574
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	rs919850756
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del)	rs121908079
NM_017882.3(CLN6):c.542+5G>T	rs786205066
NM_017882.3(CLN6):c.552dup (p.Phe185fs)	rs1567095153
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)	rs104894486
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	rs149262877
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017882.3(CLN6):c.7del (p.Ala3fs)	rs786205065

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.