List of variants in gene OPA1 reported as likely pathogenic by GeneDx

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)	rs535885178	0.00001
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter)	rs1048376563
NM_130837.3(OPA1):c.1035+5G>A	rs754576717
NM_130837.3(OPA1):c.1036-1G>A	rs863224130
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)	rs1553876590
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe)	rs863224131
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)	rs2109014902
NM_130837.3(OPA1):c.1126A>G (p.Met376Val)	rs863224132
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)	rs1180256773
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr)	rs863224135
NM_130837.3(OPA1):c.1377+5del	rs2109043788
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)	rs1553877946
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala)	rs1064795743
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro)	rs1553878117
NM_130837.3(OPA1):c.1935+3A>G	rs398124300
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
NM_130837.3(OPA1):c.2661+1G>T	rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)	rs794727405
NM_130837.3(OPA1):c.2984-1_2986del	rs2109460398

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.