List of variants in gene OPA1 reported as pathogenic for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)	rs387906899
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)	rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	rs80356529
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)	rs121908376
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)	rs387906901
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)	rs879255513
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.556+1G>A	rs1577162868
NM_130837.3(OPA1):c.610+360G>A	rs1553872542

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.