List of variants in gene MCOLN1 reported as likely pathogenic for Mucolipidosis type IV; Lisch epithelial corneal dystrophy

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)	rs797044822
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)	rs754097561
NM_020533.3(MCOLN1):c.1446dup (p.Gln483fs)
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	rs797044823
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)	rs1368027694
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)	rs765577483
NM_020533.3(MCOLN1):c.238-1G>C
NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)	rs1056159821
NM_020533.3(MCOLN1):c.571+2T>C	rs1555741822
NM_020533.3(MCOLN1):c.643dup (p.Ser215fs)
NM_020533.3(MCOLN1):c.777+1G>T
NM_020533.3(MCOLN1):c.778-2A>G
NM_020533.3(MCOLN1):c.878-2A>T

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.