Loading Data . . .

EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1OPA1Ex1NM_015560.2:c.-8C>TLRG_337t1:c.-8C>T, LRG_337t2:c.-8C>T, NM_015560.1:c.-8C>T, NM_015560.2:c.-8C>T, NM_130831.1:c.-8C>T, NM_130831.2:c.-8C>T, NM_130832.1:c.-8C>T, NM_130832.2:c.-8C>T, NM_130833.1:c.-8C>T, NM_130833.2:c.-8C>T, NM_130834.1:c.-8C>T, NM_130834.2:c.-8C>T, NM_130835.1:c.-8C>T, NM_130835.2:c.-8C>T, NM_130836.1:c.-8C>T, NM_130836.2:c.-8C>T, NM_130837.1:c.-8C>T, NM_130837.2:c.-8C>T, XM_005247500.1:c.-8C>T, XM_005247501.1:c.-8C>T, XM_005247502.1:c.-8C>T, XM_005247503.1:c.-8C>T, XM_005247504.1:c.-8C>TVOUS**
2OPA1Ex1NM_015560.2:c.22G>Tp.Ala8Ser | p.A8SNM_015560.1:c.22G>T, NM_015560.2:c.22G>T, NM_130831.1:c.22G>T, NM_130831.2:c.22G>T, NM_130832.1:c.22G>T, NM_130832.2:c.22G>T, NM_130833.1:c.22G>T, NM_130833.2:c.22G>T, NM_130834.1:c.22G>T, NM_130834.2:c.22G>T, NM_130835.1:c.22G>T, NM_130835.2:c.22G>T, NM_130836.1:c.22G>T, NM_130836.2:c.22G>T, NM_130837.1:c.22G>T, NM_130837.2:c.22G>T, XM_005247500.1:c.22G>T, XM_005247501.1:c.22G>T, XM_005247502.1:c.22G>T, XM_005247503.1:c.22G>T, XM_005247504.1:c.22G>TVOUS01/06/2015
3OPA1Ex2NM_015560.2:c.33-8T>CLRG_337t1:c.33-8T>C, LRG_337t2:c.33-8T>C, NM_015560.1:c.33-8T>C, NM_015560.2:c.33-8T>C, NM_130831.1:c.33-8T>C, NM_130831.2:c.33-8T>C, NM_130832.1:c.33-8T>C, NM_130832.2:c.33-8T>C, NM_130833.1:c.33-8T>C, NM_130833.2:c.33-8T>C, NM_130834.1:c.33-8T>C, NM_130834.2:c.33-8T>C, NM_130835.1:c.33-8T>C, NM_130835.2:c.33-8T>C, NM_130836.1:c.33-8T>C, NM_130836.2:c.33-8T>C, NM_130837.1:c.33-8T>C, NM_130837.2:c.33-8T>C, NR_046634.1:n.*3884A>G, XM_005247500.1:c.33-8T>C, XM_005247501.1:c.33-8T>C, XM_005247502.1:c.33-8T>C, XM_005247503.1:c.33-8T>C, XM_005247504.1:c.33-8T>CVOUS01/05/2015
4OPA1Ex2NM_015560.2:c.43C>Ap.Gln15Lys | p.Q15KNM_015560.1:c.43C>A, NM_015560.2:c.43C>A, NM_130831.1:c.43C>A, NM_130831.2:c.43C>A, NM_130832.1:c.43C>A, NM_130832.2:c.43C>A, NM_130833.1:c.43C>A, NM_130833.2:c.43C>A, NM_130834.1:c.43C>A, NM_130834.2:c.43C>A, NM_130835.1:c.43C>A, NM_130835.2:c.43C>A, NM_130836.1:c.43C>A, NM_130836.2:c.43C>A, NM_130837.1:c.43C>A, NM_130837.2:c.43C>A, NR_046634.1:n.*3866G>TBenign03/06/2013 
5OPA1Ex2NM_015560.2:c.70A>Gp.Ile24Val | p.I24VLRG_337t1:c.70A>G, LRG_337t2:c.70A>G, NM_015560.1:c.70A>G, NM_015560.2:c.70A>G, NM_130831.1:c.70A>G, NM_130831.2:c.70A>G, NM_130832.1:c.70A>G, NM_130832.2:c.70A>G, NM_130833.1:c.70A>G, NM_130833.2:c.70A>G, NM_130834.1:c.70A>G, NM_130834.2:c.70A>G, NM_130835.1:c.70A>G, NM_130835.2:c.70A>G, NM_130836.1:c.70A>G, NM_130836.2:c.70A>G, NM_130837.1:c.70A>G, NM_130837.2:c.70A>G, NR_046634.1:n.*3839T>C, XM_005247500.1:c.70A>G, XM_005247501.1:c.70A>G, XM_005247502.1:c.70A>G, XM_005247503.1:c.70A>G, XM_005247504.1:c.70A>GVOUS08/21/2017
6OPA1Ex2NM_015560.2:c.85C>Gp.Pro29Ala | p.P29ALRG_337t1:c.85C>G, LRG_337t2:c.85C>G, NM_015560.1:c.85C>G, NM_015560.2:c.85C>G, NM_130831.1:c.85C>G, NM_130831.2:c.85C>G, NM_130832.1:c.85C>G, NM_130832.2:c.85C>G, NM_130833.1:c.85C>G, NM_130833.2:c.85C>G, NM_130834.1:c.85C>G, NM_130834.2:c.85C>G, NM_130835.1:c.85C>G, NM_130835.2:c.85C>G, NM_130836.1:c.85C>G, NM_130836.2:c.85C>G, NM_130837.1:c.85C>G, NM_130837.2:c.85C>G, NR_046634.1:n.*3824G>C, XM_005247500.1:c.85C>G, XM_005247501.1:c.85C>G, XM_005247502.1:c.85C>G, XM_005247503.1:c.85C>G, XM_005247504.1:c.85C>GVOUS11/21/2018
7OPA1Ex2NM_015560.2:c.93_96dupAAAAPathogenic** 
8OPA1Ex2NM_015560.2:c.113_130delGAAGCATTTATCATTCACp.Arg38_Ser43del | p.R38_S43del112_129del, LRG_337t1:c.113_130delGAAGCATTTATCATTCAC, LRG_337t2:c.113_130delGAAGCATTTATCATTCAC, NM_015560.1:c.113_130delGAAGCATTTATCATTCAC, NM_015560.2:c.113_130delGAAGCATTTATCATTCAC, NM_130831.1:c.113_130delGAAGCATTTATCATTCAC, NM_130831.2:c.113_130delGAAGCATTTATCATTCAC, NM_130832.1:c.113_130delGAAGCATTTATCATTCAC, NM_130832.2:c.113_130delGAAGCATTTATCATTCAC, NM_130833.1:c.113_130delGAAGCATTTATCATTCAC, NM_130833.2:c.113_130delGAAGCATTTATCATTCAC, NM_130834.1:c.113_130delGAAGCATTTATCATTCAC, NM_130834.2:c.113_130delGAAGCATTTATCATTCAC, NM_130835.1:c.113_130delGAAGCATTTATCATTCAC, NM_130835.2:c.113_130delGAAGCATTTATCATTCAC, NM_130836.1:c.113_130delGAAGCATTTATCATTCAC, NM_130836.2:c.113_130delGAAGCATTTATCATTCAC, NM_130837.1:c.113_130delGAAGCATTTATCATTCAC, NM_130837.2:c.113_130delGAAGCATTTATCATTCAC, NR_046634.1:n.*3779_*3796delGTGAATGATAAATGCTTC, XM_005247500.1:c.113_130delGAAGCATTTATCATTCAC, XM_005247501.1:c.113_130delGAAGCATTTATCATTCAC, XM_005247502.1:c.113_130delGAAGCATTTATCATTCAC, XM_005247VOUS05/23/2019
9OPA1Ex2NM_015560.2:c.211C>Tp.Arg71Cys | p.R71CNM_015560.1:c.211C>T, NM_015560.2:c.211C>T, NM_130831.1:c.211C>T, NM_130831.2:c.211C>T, NM_130832.1:c.211C>T, NM_130832.2:c.211C>T, NM_130833.1:c.211C>T, NM_130833.2:c.211C>T, NM_130834.1:c.211C>T, NM_130834.2:c.211C>T, NM_130835.1:c.211C>T, NM_130835.2:c.211C>T, NM_130836.1:c.211C>T, NM_130836.2:c.211C>T, NM_130837.1:c.211C>T, NM_130837.2:c.211C>T, NR_046634.1:n.*3698G>A, XM_005247500.1:c.211C>T, XM_005247501.1:c.211C>T, XM_005247502.1:c.211C>T, XM_005247503.1:c.211C>T, XM_005247504.1:c.211C>TVOUS**
10OPA1Ex2NM_015560.2:c.239A>Gp.Tyr80Cys | p.Y80CLRG_337t1:c.239A>G, LRG_337t2:c.239A>G, NM_015560.1:c.239A>G, NM_015560.2:c.239A>G, NM_130831.1:c.239A>G, NM_130831.2:c.239A>G, NM_130832.1:c.239A>G, NM_130832.2:c.239A>G, NM_130833.1:c.239A>G, NM_130833.2:c.239A>G, NM_130834.1:c.239A>G, NM_130834.2:c.239A>G, NM_130835.1:c.239A>G, NM_130835.2:c.239A>G, NM_130836.1:c.239A>G, NM_130836.2:c.239A>G, NM_130837.1:c.239A>G, NM_130837.2:c.239A>G, NR_046634.1:n.*3670T>C, XM_005247500.1:c.239A>G, XM_005247501.1:c.239A>G, XM_005247502.1:c.239A>G, XM_005247503.1:c.239A>G, XM_005247504.1:c.239A>GLikely benign03/01/2018 
11OPA1Ex2NM_015560.2:c.245A>Gp.Tyr82Cys | p.Y82CLRG_337t1:c.245A>G, LRG_337t2:c.245A>G, NM_015560.1:c.245A>G, NM_015560.2:c.245A>G, NM_130831.1:c.245A>G, NM_130831.2:c.245A>G, NM_130832.1:c.245A>G, NM_130832.2:c.245A>G, NM_130833.1:c.245A>G, NM_130833.2:c.245A>G, NM_130834.1:c.245A>G, NM_130834.2:c.245A>G, NM_130835.1:c.245A>G, NM_130835.2:c.245A>G, NM_130836.1:c.245A>G, NM_130836.2:c.245A>G, NM_130837.1:c.245A>G, NM_130837.2:c.245A>G, NR_046634.1:n.*3664T>C, XM_005247500.1:c.245A>G, XM_005247501.1:c.245A>G, XM_005247502.1:c.245A>G, XM_005247503.1:c.245A>G, XM_005247504.1:c.245A>GVOUS05/26/2017
12OPA1Ex2NM_015560.2:c.254G>Ap.Arg85His | p.R85HBenign03/09/2013 
13OPA1Ex2NM_015560.2:c.292_301delTTAAAACTTCPathogenic10/06/2014 
14OPA1Ex2NM_015560.2:c.321G>Ap.Ser107= | p.S107=NM_015560.1:c.321G>A, NM_015560.2:c.321G>A, NM_130831.1:c.321G>A, NM_130831.2:c.321G>A, NM_130832.1:c.321G>A, NM_130832.2:c.321G>A, NM_130833.1:c.321G>A, NM_130833.2:c.321G>A, NM_130834.1:c.321G>A, NM_130834.2:c.321G>A, NM_130835.1:c.321G>A, NM_130835.2:c.321G>A, NM_130836.1:c.321G>A, NM_130836.2:c.321G>A, NM_130837.1:c.321G>A, NM_130837.2:c.321G>A, NR_046634.1:n.*3588C>TBenign07/01/2013 
15OPA1Ex3NM_015560.2:c.420G>Tp.Val140= | p.V140=NM_015560.1:c.420G>T, NM_015560.2:c.420G>T, NM_130831.1:c.420G>T, NM_130831.2:c.420G>T, NM_130832.1:c.420G>T, NM_130832.2:c.420G>T, NM_130833.1:c.420G>T, NM_130833.2:c.420G>T, NM_130834.1:c.420G>T, NM_130834.2:c.420G>T, NM_130835.1:c.420G>T, NM_130835.2:c.420G>T, NM_130836.1:c.420G>T, NM_130836.2:c.420G>T, NM_130837.1:c.420G>T, NM_130837.2:c.420G>T, NR_046634.1:n.*2857C>ABenign02/01/2013 
16OPA1Ex3NM_015560.2:c.446T>Gp.Phe149Cys | p.F149CVOUS**
17OPA1Ex3NM_015560.2:c.448+50A>GLRG_337t1:c.448+50A>G, LRG_337t2:c.448+50A>G, NM_015560.1:c.448+50A>G, NM_015560.2:c.448+50A>G, NM_130831.1:c.448+50A>G, NM_130831.2:c.448+50A>G, NM_130832.1:c.448+50A>G, NM_130832.2:c.448+50A>G, NM_130833.1:c.448+50A>G, NM_130833.2:c.448+50A>G, NM_130834.1:c.448+50A>G, NM_130834.2:c.448+50A>G, NM_130835.1:c.448+50A>G, NM_130835.2:c.448+50A>G, NM_130836.1:c.448+50A>G, NM_130836.2:c.448+50A>G, NM_130837.1:c.448+50A>G, NM_130837.2:c.448+50A>G, NR_046634.1:n.*2779T>C, XM_005247500.1:c.448+50A>G, XM_005247501.1:c.448+50A>G, XM_005247502.1:c.448+50A>G, XM_005247503.1:c.448+50A>G, XM_005247504.1:c.448+50A>GBenign01/31/2017 
18OPA1Ex4NM_015560.2:c.449-21A>GLRG_337t1:c.449-21A>G, LRG_337t2:c.449-21A>G, NM_015560.1:c.449-21A>G, NM_015560.2:c.449-21A>G, NM_130831.1:c.448+1387A>G, NM_130831.2:c.448+1387A>G, NM_130832.1:c.449-627A>G, NM_130832.2:c.449-627A>G, NM_130833.1:c.448+1387A>G, NM_130833.2:c.448+1387A>G, NM_130834.1:c.449-21A>G, NM_130834.2:c.449-21A>G, NM_130835.1:c.449-627A>G, NM_130835.2:c.449-627A>G, NM_130836.1:c.449-21A>G, NM_130836.2:c.449-21A>G, NM_130837.1:c.449-21A>G, NM_130837.2:c.449-21A>G, NR_046634.1:n.*1442T>C, XM_005247500.1:c.449-21A>G, XM_005247501.1:c.449-21A>G, XM_005247502.1:c.449-21A>G, XM_005247503.1:c.448+1387A>G, XM_005247504.1:c.449-21A>GBenign01/31/2017 
19OPA1Ex4NM_015560.2:c.449-19T>CBenign** 
20OPA1Ex4NM_015560.2:c.473G>Ap.Ser158Asn | p.S158NLRG_337t1:c.473G>A, LRG_337t2:c.473G>A, NM_015560.1:c.473G>A, NM_015560.2:c.473G>A, NM_130831.1:c.448+1432G>A, NM_130831.2:c.448+1432G>A, NM_130832.1:c.449-582G>A, NM_130832.2:c.449-582G>A, NM_130833.1:c.448+1432G>A, NM_130833.2:c.448+1432G>A, NM_130834.1:c.473G>A, NM_130834.2:c.473G>A, NM_130835.1:c.449-582G>A, NM_130835.2:c.449-582G>A, NM_130836.1:c.473G>A, NM_130836.2:c.473G>A, NM_130837.1:c.473G>A, NM_130837.2:c.473G>A, NR_046634.1:n.*1397C>TBenign12/23/2015 
21OPA1Ex4NM_015560.2:c.517G>Ap.Val173Ile | p.V173ILRG_337t1:c.517G>A, LRG_337t2:c.517G>A, NM_015560.1:c.517G>A, NM_015560.2:c.517G>A, NM_130831.1:c.448+1476G>A, NM_130831.2:c.448+1476G>A, NM_130832.1:c.449-538G>A, NM_130832.2:c.449-538G>A, NM_130833.1:c.448+1476G>A, NM_130833.2:c.448+1476G>A, NM_130834.1:c.517G>A, NM_130834.2:c.517G>A, NM_130835.1:c.449-538G>A, NM_130835.2:c.449-538G>A, NM_130836.1:c.517G>A, NM_130836.2:c.517G>A, NM_130837.1:c.517G>A, NM_130837.2:c.517G>A, NR_046634.1:n.*1353C>T, XM_005247500.1:c.517G>A, XM_005247501.1:c.517G>A, XM_005247502.1:c.517G>A, XM_005247503.1:c.448+1476G>A, XM_005247504.1:c.517G>AVOUS04/30/2019
22OPA1Ex4NM_015560.2:c.530G>Tp.Ser177Ile | p.S177ILRG_337t1:c.530G>T, LRG_337t2:c.530G>T, NM_015560.1:c.530G>T, NM_015560.2:c.530G>T, NM_130831.1:c.448+1489G>T, NM_130831.2:c.448+1489G>T, NM_130832.1:c.449-525G>T, NM_130832.2:c.449-525G>T, NM_130833.1:c.448+1489G>T, NM_130833.2:c.448+1489G>T, NM_130834.1:c.530G>T, NM_130834.2:c.530G>T, NM_130835.1:c.449-525G>T, NM_130835.2:c.449-525G>T, NM_130836.1:c.530G>T, NM_130836.2:c.530G>T, NM_130837.1:c.530G>T, NM_130837.2:c.530G>T, NR_046634.1:n.*1340C>A, XM_005247500.1:c.530G>T, XM_005247501.1:c.530G>T, XM_005247502.1:c.530G>T, XM_005247503.1:c.448+1489G>T, XM_005247504.1:c.530G>TLikely benign03/18/2019 
23OPA1Ex4NM_015560.2:c.531C>Ap.Ser177Arg | p.S177RVOUS02/15/2014
24OPA1Ex4NM_015560.2:c.533T>Ap.Leu178* | p.L178XPathogenic02/15/2014 
25OPA1Ex4NM_015560.2:c.556+12G>TVOUS**
26OPA1Ex5NM_015560.2:c.557-672G>ALRG_337t1:c.557-672G>A, LRG_337t2:c.610+360G>A, NM_015560.1:c.557-672G>A, NM_015560.2:c.557-672G>A, NM_130831.1:c.449-672G>A, NM_130831.2:c.449-672G>A, NM_130832.1:c.502+360G>A, NM_130832.2:c.502+360G>A, NM_130833.1:c.449-672G>A, NM_130833.2:c.449-672G>A, NM_130834.1:c.610+360G>A, NM_130834.2:c.610+360G>A, NM_130835.1:c.502+360G>A, NM_130835.2:c.502+360G>A, NM_130836.1:c.557-672G>A, NM_130836.2:c.557-672G>A, NM_130837.1:c.610+360G>A, NM_130837.2:c.610+360G>A, NR_046634.1:n.*402C>T, XM_005247500.1:c.610+360G>A, XM_005247501.1:c.557-672G>A, XM_005247502.1:c.610+360G>A, XM_005247503.1:c.449-672G>A, XM_005247504.1:c.557-672G>AVOUS11/04/2020
27OPA1Ex5NM_015560.2:c.557-668G>ALRG_337t1:c.557-668G>A, LRG_337t2:c.610+364G>A, NM_015560.1:c.557-668G>A, NM_015560.2:c.557-668G>A, NM_130831.1:c.449-668G>A, NM_130831.2:c.449-668G>A, NM_130832.1:c.502+364G>A, NM_130832.2:c.502+364G>A, NM_130833.1:c.449-668G>A, NM_130833.2:c.449-668G>A, NM_130834.1:c.610+364G>A, NM_130834.2:c.610+364G>A, NM_130835.1:c.502+364G>A, NM_130835.2:c.502+364G>A, NM_130836.1:c.557-668G>A, NM_130836.2:c.557-668G>A, NM_130837.1:c.610+364G>A, NM_130837.2:c.610+364G>A, NR_046634.1:n.*398C>T, XM_005247500.1:c.610+364G>A, XM_005247501.1:c.557-668G>A, XM_005247502.1:c.610+364G>A, XM_005247503.1:c.449-668G>A, XM_005247504.1:c.557-668G>ALikely pathogenic11/04/2020 
28OPA1Ex5NM_015560.2:c.557-32A>CVOUS**
29OPA1Ex5NM_015560.2:c.557-19T>CLRG_337t1:c.557-19T>C, LRG_337t2:c.611-19T>C, NM_015560.1:c.557-19T>C, NM_015560.2:c.557-19T>C, NM_130831.1:c.449-19T>C, NM_130831.2:c.449-19T>C, NM_130832.1:c.503-19T>C, NM_130832.2:c.503-19T>C, NM_130833.1:c.449-19T>C, NM_130833.2:c.449-19T>C, NM_130834.1:c.611-19T>C, NM_130834.2:c.611-19T>C, NM_130835.1:c.503-19T>C, NM_130835.2:c.503-19T>C, NM_130836.1:c.557-19T>C, NM_130836.2:c.557-19T>C, NM_130837.1:c.611-19T>C, NM_130837.2:c.611-19T>C, NR_046634.1:n.251A>GBenign12/23/2015 
30OPA1Ex5NM_015560.2:c.575C>Tp.Ala192Val | p.A192VLRG_337t1:c.575C>T, LRG_337t2:c.629C>T, NM_015560.1:c.575C>T, NM_015560.2:c.575C>T, NM_130831.1:c.467C>T, NM_130831.2:c.467C>T, NM_130832.1:c.521C>T, NM_130832.2:c.521C>T, NM_130833.1:c.467C>T, NM_130833.2:c.467C>T, NM_130834.1:c.629C>T, NM_130834.2:c.629C>T, NM_130835.1:c.521C>T, NM_130835.2:c.521C>T, NM_130836.1:c.575C>T, NM_130836.2:c.575C>T, NM_130837.1:c.629C>T, NM_130837.2:c.629C>T, NR_046634.1:n.214G>ABenign04/06/2016 
31OPA1Ex5NM_015560.2:c.624+2T>GLRG_337t1:c.624+2T>G, LRG_337t2:c.678+2T>G, NM_015560.1:c.624+2T>G, NM_015560.2:c.624+2T>G, NM_130831.1:c.516+2T>G, NM_130831.2:c.516+2T>G, NM_130832.1:c.570+2T>G, NM_130832.2:c.570+2T>G, NM_130833.1:c.516+2T>G, NM_130833.2:c.516+2T>G, NM_130834.1:c.678+2T>G, NM_130834.2:c.678+2T>G, NM_130835.1:c.570+2T>G, NM_130835.2:c.570+2T>G, NM_130836.1:c.624+2T>G, NM_130836.2:c.624+2T>G, NM_130837.1:c.678+2T>G, NM_130837.2:c.678+2T>G, NR_046634.1:n.191-28A>C, XM_005247500.1:c.678+2T>G, XM_005247501.1:c.624+2T>G, XM_005247502.1:c.678+2T>G, XM_005247503.1:c.516+2T>G, XM_005247504.1:c.624+2T>GPathogenic10/11/2016 
32OPA1Ex6NM_015560.2:c.625-4T>ANM_015560.1:c.625-4T>A, NM_015560.2:c.625-4T>A, NM_130831.1:c.517-4T>A, NM_130831.2:c.517-4T>A, NM_130832.1:c.571-4T>A, NM_130832.2:c.571-4T>A, NM_130833.1:c.628-4T>A, NM_130833.2:c.628-4T>A, NM_130834.1:c.679-4T>A, NM_130834.2:c.679-4T>A, NM_130835.1:c.682-4T>A, NM_130835.2:c.682-4T>A, NM_130836.1:c.736-4T>A, NM_130836.2:c.736-4T>A, NM_130837.1:c.790-4T>A, NM_130837.2:c.790-4T>A, NR_046634.1:n.-4276A>TVOUS01/20/2014
33OPA1Ex6NM_015560.2:c.635_636delAAp.Lys212Argfs*4 | p.K212RfsX4LRG_337t1:c.635_636delAA, LRG_337t2:c.800_801delAA, NM_015560.1:c.635_636delAA, NM_015560.2:c.635_636delAA, NM_130831.1:c.527_528delAA, NM_130831.2:c.527_528delAA, NM_130832.1:c.581_582delAA, NM_130832.2:c.581_582delAA, NM_130833.1:c.638_639delAA, NM_130833.2:c.638_639delAA, NM_130834.1:c.689_690delAA, NM_130834.2:c.689_690delAA, NM_130835.1:c.692_693delAA, NM_130835.2:c.692_693delAA, NM_130836.1:c.746_747delAA, NM_130836.2:c.746_747delAA, NM_130837.1:c.800_801delAA, NM_130837.2:c.800_801delAA, NR_046634.1:n.-4291_-4290delTT, XM_005247500.1:c.800_801delAA, XM_005247501.1:c.746_747delAA, XM_005247502.1:c.689_690delAA, XM_005247503.1:c.638_639delAA, XM_005247504.1:c.635_636delAAPathogenic06/27/2016 
34OPA1Ex6NM_015560.2:c.639_640delGAp.Lys214Asnfs*2 | p.K214NfsX2LRG_337t1:c.639_640delGA, LRG_337t2:c.804_805delGA, NM_015560.1:c.639_640delGA, NM_015560.2:c.639_640delGA, NM_130831.1:c.531_532delGA, NM_130831.2:c.531_532delGA, NM_130832.1:c.585_586delGA, NM_130832.2:c.585_586delGA, NM_130833.1:c.642_643delGA, NM_130833.2:c.642_643delGA, NM_130834.1:c.693_694delGA, NM_130834.2:c.693_694delGA, NM_130835.1:c.696_697delGA, NM_130835.2:c.696_697delGA, NM_130836.1:c.750_751delGA, NM_130836.2:c.750_751delGA, NM_130837.1:c.804_805delGA, NM_130837.2:c.804_805delGA, NR_046634.1:n.-4295_-4294delTC, XM_005247500.1:c.804_805delGA, XM_005247501.1:c.750_751delGA, XM_005247502.1:c.693_694delGA, XM_005247503.1:c.642_643delGA, XM_005247504.1:c.639_640delGAPathogenic06/13/2018 
35OPA1Ex6NM_015560.2:c.800_801delAALRG_337t1:c.678+122_678+123delAA, LRG_337t2:c.843+122_843+123delAA, NM_015560.1:c.678+122_678+123delAA, NM_015560.2:c.678+122_678+123delAA, NM_130831.1:c.570+122_570+123delAA, NM_130831.2:c.570+122_570+123delAA, NM_130832.1:c.624+122_624+123delAA, NM_130832.2:c.624+122_624+123delAA, NM_130833.1:c.681+122_681+123delAA, NM_130833.2:c.681+122_681+123delAA, NM_130834.1:c.732+122_732+123delAA, NM_130834.2:c.732+122_732+123delAA, NM_130835.1:c.735+122_735+123delAA, NM_130835.2:c.735+122_735+123delAA, NM_130836.1:c.789+122_789+123delAA, NM_130836.2:c.789+122_789+123delAA, NM_130837.1:c.843+122_843+123delAA, NM_130837.2:c.843+122_843+123delAA, NR_046634.1:n.-4456_-4455delTT, XM_005247500.1:c.843+122_843+123delAA, XM_005247501.1:c.789+122_789+123delAA, XM_005247502.1:c.732+122_732+123delAA, XM_005247503.1:c.681+122_681+123delAA, XM_005247504.1:c.678+122_678+123delAAPathogenic** 
36OPA1Ex7NM_015560.2:c.687T>Gp.Tyr229* | p.Y229XLRG_337t1:c.687T>G, LRG_337t2:c.852T>G, NM_015560.1:c.687T>G, NM_015560.2:c.687T>G, NM_130831.1:c.579T>G, NM_130831.2:c.579T>G, NM_130832.1:c.633T>G, NM_130832.2:c.633T>G, NM_130833.1:c.690T>G, NM_130833.2:c.690T>G, NM_130834.1:c.741T>G, NM_130834.2:c.741T>G, NM_130835.1:c.744T>G, NM_130835.2:c.744T>G, NM_130836.1:c.798T>G, NM_130836.2:c.798T>G, NM_130837.1:c.852T>G, NM_130837.2:c.852T>G, XM_005247500.1:c.852T>G, XM_005247501.1:c.798T>G, XM_005247502.1:c.741T>G, XM_005247503.1:c.690T>G, XM_005247504.1:c.687T>GPathogenic** 
37OPA1Ex7NM_015560.2:c.737T>Gp.Leu246* | p.L246XPathogenic** 
38OPA1Ex7NM_015560.2:c.756C>Tp.Asp252= | p.D252=LRG_337t1:c.756C>T, LRG_337t2:c.921C>T, NM_015560.1:c.756C>T, NM_015560.2:c.756C>T, NM_130831.1:c.648C>T, NM_130831.2:c.648C>T, NM_130832.1:c.702C>T, NM_130832.2:c.702C>T, NM_130833.1:c.759C>T, NM_130833.2:c.759C>T, NM_130834.1:c.810C>T, NM_130834.2:c.810C>T, NM_130835.1:c.813C>T, NM_130835.2:c.813C>T, NM_130836.1:c.867C>T, NM_130836.2:c.867C>T, NM_130837.1:c.921C>T, NM_130837.2:c.921C>T, XM_005247500.1:c.921C>T, XM_005247501.1:c.867C>T, XM_005247502.1:c.810C>T, XM_005247503.1:c.759C>T, XM_005247504.1:c.756C>TVOUS03/27/2018
39OPA1Ex7NM_015560.2:c.778C>Gp.Leu260Val | p.L260VLRG_337t1:c.778C>G, LRG_337t2:c.943C>G, NM_015560.1:c.778C>G, NM_015560.2:c.778C>G, NM_130831.1:c.670C>G, NM_130831.2:c.670C>G, NM_130832.1:c.724C>G, NM_130832.2:c.724C>G, NM_130833.1:c.781C>G, NM_130833.2:c.781C>G, NM_130834.1:c.832C>G, NM_130834.2:c.832C>G, NM_130835.1:c.835C>G, NM_130835.2:c.835C>G, NM_130836.1:c.889C>G, NM_130836.2:c.889C>G, NM_130837.1:c.943C>G, NM_130837.2:c.943C>G, XM_005247500.1:c.943C>G, XM_005247501.1:c.889C>G, XM_005247502.1:c.832C>G, XM_005247503.1:c.781C>G, XM_005247504.1:c.778C>GVOUS02/01/2018
40OPA1Ex7NM_015560.2:c.783+4T>CBenign** 
41OPA1Ex7NM_015560.2:c.783+11T>AVOUS**
42OPA1Ex7NM_015560.2:c.959_962delTTGANM_015560.1:c.783+176_783+179delTTGA, NM_015560.2:c.783+176_783+179delTTGA, NM_130831.1:c.675+176_675+179delTTGA, NM_130831.2:c.675+176_675+179delTTGA, NM_130832.1:c.729+176_729+179delTTGA, NM_130832.2:c.729+176_729+179delTTGA, NM_130833.1:c.786+176_786+179delTTGA, NM_130833.2:c.786+176_786+179delTTGA, NM_130834.1:c.837+176_837+179delTTGA, NM_130834.2:c.837+176_837+179delTTGA, NM_130835.1:c.840+176_840+179delTTGA, NM_130835.2:c.840+176_840+179delTTGA, NM_130836.1:c.894+176_894+179delTTGA, NM_130836.2:c.894+176_894+179delTTGA, NM_130837.1:c.948+176_948+179delTTGA, NM_130837.2:c.948+176_948+179delTTGA, XM_005247500.1:c.948+176_948+179delTTGA, XM_005247501.1:c.894+176_894+179delTTGA, XM_005247502.1:c.837+176_837+179delTTGA, XM_005247503.1:c.786+176_786+179delTTGA, XM_005247504.1:c.783+176_783+179delTTGAPathogenic** 
43OPA1Ex8NM_015560.2:c.784-11A>CVOUS**
44OPA1Ex8NM_015560.2:c.869G>Ap.Arg290Gln | p.R290QLRG_337t1:c.869G>A, LRG_337t2:c.1034G>A, NM_015560.1:c.869G>A, NM_015560.2:c.869G>A, NM_130831.1:c.761G>A, NM_130831.2:c.761G>A, NM_130832.1:c.815G>A, NM_130832.2:c.815G>A, NM_130833.1:c.872G>A, NM_130833.2:c.872G>A, NM_130834.1:c.923G>A, NM_130834.2:c.923G>A, NM_130835.1:c.926G>A, NM_130835.2:c.926G>A, NM_130836.1:c.980G>A, NM_130836.2:c.980G>A, NM_130837.1:c.1034G>A, NM_130837.2:c.1034G>A, XM_005247500.1:c.1034G>A, XM_005247501.1:c.980G>A, XM_005247502.1:c.923G>A, XM_005247503.1:c.872G>A, XM_005247504.1:c.869G>APathogenic02/05/2020 
45OPA1Ex8NM_015560.2:c.870+1G>ANM_015560.1:c.870+1G>A, NM_015560.2:c.870+1G>A, NM_130831.1:c.762+1G>A, NM_130831.2:c.762+1G>A, NM_130832.1:c.816+1G>A, NM_130832.2:c.816+1G>A, NM_130833.1:c.873+1G>A, NM_130833.2:c.873+1G>A, NM_130834.1:c.924+1G>A, NM_130834.2:c.924+1G>A, NM_130835.1:c.927+1G>A, NM_130835.2:c.927+1G>A, NM_130836.1:c.981+1G>A, NM_130836.2:c.981+1G>A, NM_130837.1:c.1035+1G>A, NM_130837.2:c.1035+1G>APathogenic11/12/2015 
46OPA1Ex8NM_015560.2:c.870+4C>TLRG_337t1:c.870+4C>T, LRG_337t2:c.1035+4C>T, NM_015560.1:c.870+4C>T, NM_015560.2:c.870+4C>T, NM_130831.1:c.762+4C>T, NM_130831.2:c.762+4C>T, NM_130832.1:c.816+4C>T, NM_130832.2:c.816+4C>T, NM_130833.1:c.873+4C>T, NM_130833.2:c.873+4C>T, NM_130834.1:c.924+4C>T, NM_130834.2:c.924+4C>T, NM_130835.1:c.927+4C>T, NM_130835.2:c.927+4C>T, NM_130836.1:c.981+4C>T, NM_130836.2:c.981+4C>T, NM_130837.1:c.1035+4C>T, NM_130837.2:c.1035+4C>TBenign01/23/2014 
47OPA1Ex8NM_015560.2:c.870+4T>CLRG_337t1:c.870+4T>C, LRG_337t2:c.1035+4T>C, NM_015560.1:c.870+4T>C, NM_015560.2:c.870+4T>C, NM_130831.1:c.762+4T>C, NM_130831.2:c.762+4T>C, NM_130832.1:c.816+4T>C, NM_130832.2:c.816+4T>C, NM_130833.1:c.873+4T>C, NM_130833.2:c.873+4T>C, NM_130834.1:c.924+4T>C, NM_130834.2:c.924+4T>C, NM_130835.1:c.927+4T>C, NM_130835.2:c.927+4T>C, NM_130836.1:c.981+4T>C, NM_130836.2:c.981+4T>C, NM_130837.1:c.1035+4T>C, NM_130837.2:c.1035+4T>CBenign12/23/2015 
48OPA1Ex8NM_015560.2:c.870+32T>CBenign02/22/2013 
49OPA1Ex8NM_015560.2:c.870+37A>CLRG_337t1:c.870+37A>C, LRG_337t2:c.1035+37A>C, NM_015560.1:c.870+37A>C, NM_015560.2:c.870+37A>C, NM_130831.1:c.762+37A>C, NM_130831.2:c.762+37A>C, NM_130832.1:c.816+37A>C, NM_130832.2:c.816+37A>C, NM_130833.1:c.873+37A>C, NM_130833.2:c.873+37A>C, NM_130834.1:c.924+37A>C, NM_130834.2:c.924+37A>C, NM_130835.1:c.927+37A>C, NM_130835.2:c.927+37A>C, NM_130836.1:c.981+37A>C, NM_130836.2:c.981+37A>C, NM_130837.1:c.1035+37A>C, NM_130837.2:c.1035+37A>C, XM_005247500.1:c.1035+37A>C, XM_005247501.1:c.981+37A>C, XM_005247502.1:c.924+37A>C, XM_005247503.1:c.873+37A>C, XM_005247504.1:c.870+37A>CBenign01/31/2017 
50OPA1Ex9NM_015560.2:c.871-8G>TVOUS**
51OPA1Ex9NM_015560.2:c.871-6G>AVOUS04/07/2020
52OPA1Ex9NM_015560.2:c.893G>Ap.Ser298Asn | p.S298NVOUS**
53OPA1Ex9NM_015560.2:c.932C>Ap.Ala311Asp | p.A311DNM_015560.1:c.932C>A, NM_015560.2:c.932C>A, NM_130831.1:c.824C>A, NM_130831.2:c.824C>A, NM_130832.1:c.878C>A, NM_130832.2:c.878C>A, NM_130833.1:c.935C>A, NM_130833.2:c.935C>A, NM_130834.1:c.986C>A, NM_130834.2:c.986C>A, NM_130835.1:c.989C>A, NM_130835.2:c.989C>A, NM_130836.1:c.1043C>A, NM_130836.2:c.1043C>A, NM_130837.1:c.1097C>A, NM_130837.2:c.1097C>A, XM_005247500.1:c.1097C>A, XM_005247501.1:c.1043C>A, XM_005247502.1:c.986C>A, XM_005247503.1:c.935C>A, XM_005247504.1:c.932C>AVOUS11/14/2014
54OPA1Ex9NM_015560.2:c.983A>Gp.Lys328Arg | p.K328RNM_015560.1:c.983A>G, NM_015560.2:c.983A>G, NM_130831.1:c.875A>G, NM_130831.2:c.875A>G, NM_130832.1:c.929A>G, NM_130832.2:c.929A>G, NM_130833.1:c.986A>G, NM_130833.2:c.986A>G, NM_130834.1:c.1037A>G, NM_130834.2:c.1037A>G, NM_130835.1:c.1040A>G, NM_130835.2:c.1040A>G, NM_130836.1:c.1094A>G, NM_130836.2:c.1094A>G, NM_130837.1:c.1148A>G, NM_130837.2:c.1148A>GPathogenic10/22/2015 
55OPA1Ex9NM_015560.2:c.984G>Ap.Lys328= | p.K328=LRG_337t1:c.984G>A, LRG_337t2:c.1149G>A, NM_015560.1:c.984G>A, NM_015560.2:c.984G>A, NM_130831.1:c.876G>A, NM_130831.2:c.876G>A, NM_130832.1:c.930G>A, NM_130832.2:c.930G>A, NM_130833.1:c.987G>A, NM_130833.2:c.987G>A, NM_130834.1:c.1038G>A, NM_130834.2:c.1038G>A, NM_130835.1:c.1041G>A, NM_130835.2:c.1041G>A, NM_130836.1:c.1095G>A, NM_130836.2:c.1095G>A, NM_130837.1:c.1149G>A, NM_130837.2:c.1149G>A, XM_005247500.1:c.1149G>A, XM_005247501.1:c.1095G>A, XM_005247502.1:c.1038G>A, XM_005247503.1:c.987G>A, XM_005247504.1:c.984G>APathogenic11/15/2018 
56OPA1Ex9NM_015560.2:c.984G>Tp.Lys328Asn | p.K328NLRG_337t1:c.984G>T, LRG_337t2:c.1149G>T, NM_015560.1:c.984G>T, NM_015560.2:c.984G>T, NM_130831.1:c.876G>T, NM_130831.2:c.876G>T, NM_130832.1:c.930G>T, NM_130832.2:c.930G>T, NM_130833.1:c.987G>T, NM_130833.2:c.987G>T, NM_130834.1:c.1038G>T, NM_130834.2:c.1038G>T, NM_130835.1:c.1041G>T, NM_130835.2:c.1041G>T, NM_130836.1:c.1095G>T, NM_130836.2:c.1095G>T, NM_130837.1:c.1149G>T, NM_130837.2:c.1149G>T, XM_005247500.1:c.1149G>T, XM_005247501.1:c.1095G>T, XM_005247502.1:c.1038G>T, XM_005247503.1:c.987G>T, XM_005247504.1:c.984G>TVOUS07/12/2017
57OPA1Ex9NM_015560.2:c.984+1G>APathogenic** 
58OPA1Ex9NM_015560.2:c.984+16G>AVOUS**
59OPA1Ex10NM_015560.2:c.985-2A>GLRG_337t1:c.985-2A>G, LRG_337t2:c.1150-2A>G, NM_015560.1:c.985-2A>G, NM_015560.2:c.985-2A>G, NM_130831.1:c.877-2A>G, NM_130831.2:c.877-2A>G, NM_130832.1:c.931-2A>G, NM_130832.2:c.931-2A>G, NM_130833.1:c.988-2A>G, NM_130833.2:c.988-2A>G, NM_130834.1:c.1039-2A>G, NM_130834.2:c.1039-2A>G, NM_130835.1:c.1042-2A>G, NM_130835.2:c.1042-2A>G, NM_130836.1:c.1096-2A>G, NM_130836.2:c.1096-2A>G, NM_130837.1:c.1150-2A>G, NM_130837.2:c.1150-2A>G, XM_005247500.1:c.1150-2A>G, XM_005247501.1:c.1096-2A>G, XM_005247502.1:c.1039-2A>G, XM_005247503.1:c.988-2A>G, XM_005247504.1:c.985-2A>G, XR_241638.1:n.*4433T>CPathogenic08/17/2016 
60OPA1Ex10NM_015560.2:c.1001G>Ap.Gly334Asp | p.G334DVOUS**
61OPA1Ex11NM_015560.2:c.1071A>Gp.Ala357= | p.A357=NM_015560.1:c.1071A>G, NM_015560.2:c.1071A>G, NM_130831.1:c.963A>G, NM_130831.2:c.963A>G, NM_130832.1:c.1017A>G, NM_130832.2:c.1017A>G, NM_130833.1:c.1074A>G, NM_130833.2:c.1074A>G, NM_130834.1:c.1125A>G, NM_130834.2:c.1125A>G, NM_130835.1:c.1128A>G, NM_130835.2:c.1128A>G, NM_130836.1:c.1182A>G, NM_130836.2:c.1182A>G, NM_130837.1:c.1236A>G, NM_130837.2:c.1236A>G, XM_005247500.1:c.1236A>G, XM_005247501.1:c.1182A>G, XM_005247502.1:c.1125A>G, XM_005247503.1:c.1074A>G, XM_005247504.1:c.1071A>G, XR_241638.1:n.*4216T>CBenign02/01/2013 
62OPA1Ex11NM_015560.2:c.1078A>Cp.Arg360= | p.R360=Benign** 
63OPA1Ex11NM_015560.2:c.1096C>Tp.Arg366* | p.R366XPathogenic08/08/2012 
64OPA1Ex11NM_015560.2:c.1140+1G>ALRG_337t1:c.1140+1G>A, LRG_337t2:c.1305+1G>A, NM_015560.1:c.1140+1G>A, NM_015560.2:c.1140+1G>A, NM_130831.1:c.1032+1G>A, NM_130831.2:c.1032+1G>A, NM_130832.1:c.1086+1G>A, NM_130832.2:c.1086+1G>A, NM_130833.1:c.1143+1G>A, NM_130833.2:c.1143+1G>A, NM_130834.1:c.1194+1G>A, NM_130834.2:c.1194+1G>A, NM_130835.1:c.1197+1G>A, NM_130835.2:c.1197+1G>A, NM_130836.1:c.1251+1G>A, NM_130836.2:c.1251+1G>A, NM_130837.1:c.1305+1G>A, NM_130837.2:c.1305+1G>A, XM_005247500.1:c.1305+1G>A, XM_005247501.1:c.1251+1G>A, XM_005247502.1:c.1194+1G>A, XM_005247503.1:c.1143+1G>A, XM_005247504.1:c.1140+1G>A, XR_241638.1:n.*4146C>TPathogenic03/08/2016 
65OPA1Ex11NM_015560.2:c.1389_1390insAp.Phe464Ilefs*24 | p.F464IfsX24LRG_337t1:c.1389_1390insA, LRG_337t2:c.1554_1555insA, NM_015560.1:c.1141-75_1141-74insA, NM_015560.1:c.1389_1390insA, NM_015560.2:c.1141-75_1141-74insA, NM_015560.2:c.1389_1390insA, NM_130831.1:c.1033-75_1033-74insA, NM_130831.1:c.1281_1282insA, NM_130831.2:c.1033-75_1033-74insA, NM_130831.2:c.1281_1282insA, NM_130832.1:c.1087-75_1087-74insA, NM_130832.1:c.1335_1336insA, NM_130832.2:c.1087-75_1087-74insA, NM_130832.2:c.1335_1336insA, NM_130833.1:c.1144-75_1144-74insA, NM_130833.1:c.1392_1393insA, NM_130833.2:c.1144-75_1144-74insA, NM_130833.2:c.1392_1393insA, NM_130834.1:c.1195-75_1195-74insA, NM_130834.1:c.1443_1444insA, NM_130834.2:c.1195-75_1195-74insA, NM_130834.2:c.1443_1444insA, NM_130835.1:c.1198-75_1198-74insA, NM_130835.1:c.1446_1447insA, NM_130835.2:c.1198-75_1198-74insA, NM_130835.2:c.1446_1447insA, NM_130836.1:c.1252-75_1252-74insA, NM_130836.1:c.1500_1501insA, NM_130836.2:c.1252-75_1252-74insA, NM_130836.2:c.1500_1501insA, NM_130837.1:c.1306-75_1306-74insA, NM_130837.1:cPathogenic** 
66OPA1Ex12NM_015560.2:c.1146A>Gp.Ile382Met | p.I382MNM_015560.1:c.1146A>G, NM_015560.2:c.1146A>G, NM_130831.1:c.1038A>G, NM_130831.2:c.1038A>G, NM_130832.1:c.1092A>G, NM_130832.2:c.1092A>G, NM_130833.1:c.1149A>G, NM_130833.2:c.1149A>G, NM_130834.1:c.1200A>G, NM_130834.2:c.1200A>G, NM_130835.1:c.1203A>G, NM_130835.2:c.1203A>G, NM_130836.1:c.1257A>G, NM_130836.2:c.1257A>G, NM_130837.1:c.1311A>G, NM_130837.2:c.1311A>GVOUS02/15/2014
67OPA1Ex12NM_015560.2:c.1158A>Gp.Val386= | p.V386=LRG_337t1:c.1158A>G, LRG_337t2:c.1323A>G, NM_015560.1:c.1158A>G, NM_015560.2:c.1158A>G, NM_130831.1:c.1050A>G, NM_130831.2:c.1050A>G, NM_130832.1:c.1104A>G, NM_130832.2:c.1104A>G, NM_130833.1:c.1161A>G, NM_130833.2:c.1161A>G, NM_130834.1:c.1212A>G, NM_130834.2:c.1212A>G, NM_130835.1:c.1215A>G, NM_130835.2:c.1215A>G, NM_130836.1:c.1269A>G, NM_130836.2:c.1269A>G, NM_130837.1:c.1323A>G, NM_130837.2:c.1323A>G, XM_005247500.1:c.1323A>G, XM_005247501.1:c.1269A>G, XM_005247502.1:c.1212A>G, XM_005247503.1:c.1161A>G, XM_005247504.1:c.1158A>G, XR_241638.1:n.*3806T>CVOUS12/20/2016
68OPA1Ex12NM_015560.2:c.1177A>Cp.Arg393= | p.R393=NM_015560.1:c.1177A>C, NM_015560.2:c.1177A>C, NM_130831.1:c.1069A>C, NM_130831.2:c.1069A>C, NM_130832.1:c.1123A>C, NM_130832.2:c.1123A>C, NM_130833.1:c.1180A>C, NM_130833.2:c.1180A>C, NM_130834.1:c.1231A>C, NM_130834.2:c.1231A>C, NM_130835.1:c.1234A>C, NM_130835.2:c.1234A>C, NM_130836.1:c.1288A>C, NM_130836.2:c.1288A>C, NM_130837.1:c.1342A>C, NM_130837.2:c.1342A>CBenign07/01/2013 
69OPA1Ex12NM_015560.2:c.1187T>Gp.Leu396Arg | p.L396RNM_015560.1:c.1187T>G, NM_015560.2:c.1187T>G, NM_130831.1:c.1079T>G, NM_130831.2:c.1079T>G, NM_130832.1:c.1133T>G, NM_130832.2:c.1133T>G, NM_130833.1:c.1190T>G, NM_130833.2:c.1190T>G, NM_130834.1:c.1241T>G, NM_130834.2:c.1241T>G, NM_130835.1:c.1244T>G, NM_130835.2:c.1244T>G, NM_130836.1:c.1298T>G, NM_130836.2:c.1298T>G, NM_130837.1:c.1352T>G, NM_130837.2:c.1352T>GPathogenic04/29/2014 
70OPA1Ex12NM_015560.2:c.1199C>Tp.Pro400Leu | p.P400LNM_015560.1:c.1199C>T, NM_015560.2:c.1199C>T, NM_130831.1:c.1091C>T, NM_130831.2:c.1091C>T, NM_130832.1:c.1145C>T, NM_130832.2:c.1145C>T, NM_130833.1:c.1202C>T, NM_130833.2:c.1202C>T, NM_130834.1:c.1253C>T, NM_130834.2:c.1253C>T, NM_130835.1:c.1256C>T, NM_130835.2:c.1256C>T, NM_130836.1:c.1310C>T, NM_130836.2:c.1310C>T, NM_130837.1:c.1364C>T, NM_130837.2:c.1364C>T, XM_005247500.1:c.1364C>T, XM_005247501.1:c.1310C>T, XM_005247502.1:c.1253C>T, XM_005247503.1:c.1202C>T, XM_005247504.1:c.1199C>T, XR_241638.1:n.*3765G>ALikely pathogenic06/03/2015 
71OPA1Ex12NM_015560.2:c.1202G>Ap.Gly401Asp | p.G401DVOUS**
72OPA1Ex12NM_015560.2:c.1212delT; c.1212+1_1212+4delGTAAPathogenic10/31/2019 
73OPA1Ex12NM_015560.2:c.1212+1G>ALRG_337t1:c.1212+1G>A, LRG_337t2:c.1377+1G>A, NM_015560.1:c.1212+1G>A, NM_015560.2:c.1212+1G>A, NM_130831.1:c.1104+1G>A, NM_130831.2:c.1104+1G>A, NM_130832.1:c.1158+1G>A, NM_130832.2:c.1158+1G>A, NM_130833.1:c.1215+1G>A, NM_130833.2:c.1215+1G>A, NM_130834.1:c.1266+1G>A, NM_130834.2:c.1266+1G>A, NM_130835.1:c.1269+1G>A, NM_130835.2:c.1269+1G>A, NM_130836.1:c.1323+1G>A, NM_130836.2:c.1323+1G>A, NM_130837.1:c.1377+1G>A, NM_130837.2:c.1377+1G>A, XM_005247500.1:c.1377+1G>A, XM_005247501.1:c.1323+1G>A, XM_005247502.1:c.1266+1G>A, XM_005247503.1:c.1215+1G>A, XM_005247504.1:c.1212+1G>A, XR_241638.1:n.*3751C>TPathogenic** 
74OPA1Ex12NM_015560.2:c.1212+5_1212+6delGTinsTCNM_015560.1:c.1212+5_1212+6delinsTC, NM_015560.2:c.1212+5_1212+6delinsTC, NM_130831.1:c.1104+5_1104+6delinsTC, NM_130831.2:c.1104+5_1104+6delinsTC, NM_130832.1:c.1158+5_1158+6delinsTC, NM_130832.2:c.1158+5_1158+6delinsTC, NM_130833.1:c.1215+5_1215+6delinsTC, NM_130833.2:c.1215+5_1215+6delinsTC, NM_130834.1:c.1266+5_1266+6delinsTC, NM_130834.2:c.1266+5_1266+6delinsTC, NM_130835.1:c.1269+5_1269+6delinsTC, NM_130835.2:c.1269+5_1269+6delinsTC, NM_130836.1:c.1323+5_1323+6delinsTC, NM_130836.2:c.1323+5_1323+6delinsTC, NM_130837.1:c.1377+5_1377+6delinsTC, NM_130837.2:c.1377+5_1377+6delinsTC, XM_005247500.1:c.1377+5_1377+6delinsTC, XM_005247501.1:c.1323+5_1323+6delinsTC, XM_005247502.1:c.1266+5_1266+6delinsTC, XM_005247503.1:c.1215+5_1215+6delinsTC, XM_005247504.1:c.1212+5_1212+6delinsTC, XR_241638.1:n.*3746_*3747delinsGAVOUS10/29/2014
75OPA1Ex12NM_015560.2:c.1212+38A>TVOUS**
76OPA1Ex13NM_015560.2:c.1224dupAp.Gly409Argfs*5 | p.G409RfsX5LRG_337t1:c.1224dupA, LRG_337t2:c.1389dupA, NM_015560.1:c.1224dupA, NM_015560.2:c.1224dupA, NM_130831.1:c.1116dupA, NM_130831.2:c.1116dupA, NM_130832.1:c.1170dupA, NM_130832.2:c.1170dupA, NM_130833.1:c.1227dupA, NM_130833.2:c.1227dupA, NM_130834.1:c.1278dupA, NM_130834.2:c.1278dupA, NM_130835.1:c.1281dupA, NM_130835.2:c.1281dupA, NM_130836.1:c.1335dupA, NM_130836.2:c.1335dupA, NM_130837.1:c.1389dupA, NM_130837.2:c.1389dupA, XM_005247500.1:c.1389dupA, XM_005247501.1:c.1335dupA, XM_005247502.1:c.1278dupA, XM_005247503.1:c.1227dupA, XM_005247504.1:c.1224dupA, XR_241638.1:n.*3657dupTPathogenic03/22/2017 
77OPA1Ex13NM_015560.2:c.1233T>Cp.Ala411= | p.A411=LRG_337t1:c.1233T>C, LRG_337t2:c.1398T>C, NM_015560.1:c.1233T>C, NM_015560.2:c.1233T>C, NM_130831.1:c.1125T>C, NM_130831.2:c.1125T>C, NM_130832.1:c.1179T>C, NM_130832.2:c.1179T>C, NM_130833.1:c.1236T>C, NM_130833.2:c.1236T>C, NM_130834.1:c.1287T>C, NM_130834.2:c.1287T>C, NM_130835.1:c.1290T>C, NM_130835.2:c.1290T>C, NM_130836.1:c.1344T>C, NM_130836.2:c.1344T>C, NM_130837.1:c.1398T>C, NM_130837.2:c.1398T>C, XM_005247500.1:c.1398T>C, XM_005247501.1:c.1344T>C, XM_005247502.1:c.1287T>C, XM_005247503.1:c.1236T>C, XM_005247504.1:c.1233T>C, XR_241638.1:n.*3648A>GVOUS04/01/2016
78OPA1Ex13NM_015560.2:c.1301T>Cp.Leu434Pro | p.L434PLRG_337t1:c.1301T>C, LRG_337t2:c.1466T>C, NM_015560.1:c.1301T>C, NM_015560.2:c.1301T>C, NM_130831.1:c.1193T>C, NM_130831.2:c.1193T>C, NM_130832.1:c.1247T>C, NM_130832.2:c.1247T>C, NM_130833.1:c.1304T>C, NM_130833.2:c.1304T>C, NM_130834.1:c.1355T>C, NM_130834.2:c.1355T>C, NM_130835.1:c.1358T>C, NM_130835.2:c.1358T>C, NM_130836.1:c.1412T>C, NM_130836.2:c.1412T>C, NM_130837.1:c.1466T>C, NM_130837.2:c.1466T>C, XM_005247500.1:c.1466T>C, XM_005247501.1:c.1412T>C, XM_005247502.1:c.1355T>C, XM_005247503.1:c.1304T>C, XM_005247504.1:c.1301T>C, XR_241638.1:n.*3580A>GVOUS11/15/2016
79OPA1Ex13NM_015560.2:c.1312+32A>GVOUS**
80OPA1Ex14NM_015560.2:c.1325A>Tp.Asp442Val | p.D442VVOUS**
81OPA1Ex14NM_015560.2:c.1333C>Ap.Arg445Ser | p.R445SNM_015560.1:c.1333C>A, NM_015560.2:c.1333C>A, NM_130831.1:c.1225C>A, NM_130831.2:c.1225C>A, NM_130832.1:c.1279C>A, NM_130832.2:c.1279C>A, NM_130833.1:c.1336C>A, NM_130833.2:c.1336C>A, NM_130834.1:c.1387C>A, NM_130834.2:c.1387C>A, NM_130835.1:c.1390C>A, NM_130835.2:c.1390C>A, NM_130836.1:c.1444C>A, NM_130836.2:c.1444C>A, NM_130837.1:c.1498C>A, NM_130837.2:c.1498C>A, XM_005247500.1:c.1498C>A, XM_005247501.1:c.1444C>A, XM_005247502.1:c.1387C>A, XM_005247503.1:c.1336C>A, XM_005247504.1:c.1333C>A, XR_241638.1:n.*3201G>TVOUS02/10/2016
82OPA1Ex14NM_015560.2:c.1334G>Ap.Arg445His | p.R445HNM_015560.1:c.1334G>A, NM_015560.2:c.1334G>A, NM_130831.1:c.1226G>A, NM_130831.2:c.1226G>A, NM_130832.1:c.1280G>A, NM_130832.2:c.1280G>A, NM_130833.1:c.1337G>A, NM_130833.2:c.1337G>A, NM_130834.1:c.1388G>A, NM_130834.2:c.1388G>A, NM_130835.1:c.1391G>A, NM_130835.2:c.1391G>A, NM_130836.1:c.1445G>A, NM_130836.2:c.1445G>A, NM_130837.1:c.1499G>A, NM_130837.2:c.1499G>APathogenic05/29/2013 
83OPA1Ex14NM_015560.2:c.1352T>Gp.Leu451Arg | p.L451RPathogenic** 
84OPA1Ex14NM_015560.2:c.1352delTPathogenic01/25/2013 
85OPA1Ex14NM_015560.2:c.1380_1382delGAGLRG_337t1:c.1380_1382delGAG, LRG_337t2:c.1545_1547delGAG, NM_015560.1:c.1380_1382delGAG, NM_015560.2:c.1380_1382delGAG, NM_130831.1:c.1272_1274delGAG, NM_130831.2:c.1272_1274delGAG, NM_130832.1:c.1326_1328delGAG, NM_130832.2:c.1326_1328delGAG, NM_130833.1:c.1383_1385delGAG, NM_130833.2:c.1383_1385delGAG, NM_130834.1:c.1434_1436delGAG, NM_130834.2:c.1434_1436delGAG, NM_130835.1:c.1437_1439delGAG, NM_130835.2:c.1437_1439delGAG, NM_130836.1:c.1491_1493delGAG, NM_130836.2:c.1491_1493delGAG, NM_130837.1:c.1545_1547delGAG, NM_130837.2:c.1545_1547delGAG, XM_005247500.1:c.1545_1547delGAG, XM_005247501.1:c.1491_1493delGAG, XM_005247502.1:c.1434_1436delGAG, XM_005247503.1:c.1383_1385delGAG, XM_005247504.1:c.1380_1382delGAG, XR_241638.1:n.*3152_*3154delCTCVOUS10/28/2016
86OPA1Ex14NM_015560.2:c.1443+22C>TVOUS**
87OPA1Ex14NM_015560.2:c.1443+23G>ABenign** 
88OPA1Ex15NM_015560.2:c.1484C>Tp.Ala495Val | p.A495VVOUS**
89OPA1Ex15NM_015560.2:c.1516+23A>GNM_015560.1:c.1516+23A>G, NM_015560.2:c.1516+23A>G, NM_130831.1:c.1408+23A>G, NM_130831.2:c.1408+23A>G, NM_130832.1:c.1462+23A>G, NM_130832.2:c.1462+23A>G, NM_130833.1:c.1519+23A>G, NM_130833.2:c.1519+23A>G, NM_130834.1:c.1570+23A>G, NM_130834.2:c.1570+23A>G, NM_130835.1:c.1573+23A>G, NM_130835.2:c.1573+23A>G, NM_130836.1:c.1627+23A>G, NM_130836.2:c.1627+23A>G, NM_130837.1:c.1681+23A>G, NM_130837.2:c.1681+23A>GVOUS03/03/2014
90OPA1Ex16NM_015560.2:c.1517-16delCVOUS**
91OPA1Ex16NM_015560.2:c.1531delAinsTTCp.Ser511Phefs*6 | p.S511FfsX6LRG_337t1:c.1531delinsTTC, LRG_337t2:c.1696delinsTTC, NM_015560.1:c.1531delinsTTC, NM_015560.2:c.1531delinsTTC, NM_130831.1:c.1423delinsTTC, NM_130831.2:c.1423delinsTTC, NM_130832.1:c.1477delinsTTC, NM_130832.2:c.1477delinsTTC, NM_130833.1:c.1534delinsTTC, NM_130833.2:c.1534delinsTTC, NM_130834.1:c.1585delinsTTC, NM_130834.2:c.1585delinsTTC, NM_130835.1:c.1588delinsTTC, NM_130835.2:c.1588delinsTTC, NM_130836.1:c.1642delinsTTC, NM_130836.2:c.1642delinsTTC, NM_130837.1:c.1696delinsTTC, NM_130837.2:c.1696delinsTTC, XM_005247500.1:c.1696delinsTTC, XM_005247501.1:c.1642delinsTTC, XM_005247502.1:c.1585delinsTTC, XM_005247503.1:c.1534delinsTTC, XM_005247504.1:c.1531delinsTTC, XR_241638.1:n.*1454delinsGAAPathogenic04/04/2017 
92OPA1Ex16NM_015560.2:c.1554T>Cp.Tyr518= | p.Y518=VOUS**
93OPA1Ex16NM_015560.2:c.1560_1562delAGANM_015560.1:c.1560_1562delAGA, NM_015560.2:c.1560_1562delAGA, NM_130831.1:c.1452_1454delAGA, NM_130831.2:c.1452_1454delAGA, NM_130832.1:c.1506_1508delAGA, NM_130832.2:c.1506_1508delAGA, NM_130833.1:c.1563_1565delAGA, NM_130833.2:c.1563_1565delAGA, NM_130834.1:c.1614_1616delAGA, NM_130834.2:c.1614_1616delAGA, NM_130835.1:c.1617_1619delAGA, NM_130835.2:c.1617_1619delAGA, NM_130836.1:c.1671_1673delAGA, NM_130836.2:c.1671_1673delAGA, NM_130837.1:c.1725_1727delAGA, NM_130837.2:c.1725_1727delAGA, XM_005247500.1:c.1725_1727delAGA, XM_005247501.1:c.1671_1673delAGA, XM_005247502.1:c.1614_1616delAGA, XM_005247503.1:c.1563_1565delAGA, XM_005247504.1:c.1560_1562delAGA, XR_241638.1:n.*1423_*1425delTCTVOUS05/05/2015
94OPA1Ex16NM_015560.2:c.1579A>Tp.Lys527* | p.K527XLRG_337t1:c.1579A>T, LRG_337t2:c.1744A>T, NM_015560.1:c.1579A>T, NM_015560.2:c.1579A>T, NM_130831.1:c.1471A>T, NM_130831.2:c.1471A>T, NM_130832.1:c.1525A>T, NM_130832.2:c.1525A>T, NM_130833.1:c.1582A>T, NM_130833.2:c.1582A>T, NM_130834.1:c.1633A>T, NM_130834.2:c.1633A>T, NM_130835.1:c.1636A>T, NM_130835.2:c.1636A>T, NM_130836.1:c.1690A>T, NM_130836.2:c.1690A>T, NM_130837.1:c.1744A>T, NM_130837.2:c.1744A>T, XM_005247500.1:c.1744A>T, XM_005247501.1:c.1690A>T, XM_005247502.1:c.1633A>T, XM_005247503.1:c.1582A>T, XM_005247504.1:c.1579A>T, XR_241638.1:n.*1406T>APathogenic12/17/2019 
95OPA1Ex16NM_015560.2:c.1589+22T>GVOUS**
96OPA1Ex16NM_015560.2:c.1589+51T>GBenign** 
97OPA1Ex17NM_015560.2:c.1590-6dupTLRG_337t1:c.1590-6dupT, LRG_337t2:c.1755-6dupT, NM_015560.1:c.1590-6dupT, NM_015560.2:c.1590-6dupT, NM_130831.1:c.1482-6dupT, NM_130831.2:c.1482-6dupT, NM_130832.1:c.1536-6dupT, NM_130832.2:c.1536-6dupT, NM_130833.1:c.1593-6dupT, NM_130833.2:c.1593-6dupT, NM_130834.1:c.1644-6dupT, NM_130834.2:c.1644-6dupT, NM_130835.1:c.1647-6dupT, NM_130835.2:c.1647-6dupT, NM_130836.1:c.1701-6dupT, NM_130836.2:c.1701-6dupT, NM_130837.1:c.1755-6dupT, NM_130837.2:c.1755-6dupT, XM_005247500.1:c.1755-6dupT, XM_005247501.1:c.1701-6dupT, XM_005247502.1:c.1644-6dupT, XM_005247503.1:c.1593-6dupT, XM_005247504.1:c.1590-6dupT, XR_241638.1:n.*137dupAVOUS02/22/2018
98OPA1Ex17NM_015560.2:c.1608A>Cp.Ala536= | p.A536=LRG_337t1:c.1608A>C, LRG_337t2:c.1773A>C, NM_015560.1:c.1608A>C, NM_015560.2:c.1608A>C, NM_130831.1:c.1500A>C, NM_130831.2:c.1500A>C, NM_130832.1:c.1554A>C, NM_130832.2:c.1554A>C, NM_130833.1:c.1611A>C, NM_130833.2:c.1611A>C, NM_130834.1:c.1662A>C, NM_130834.2:c.1662A>C, NM_130835.1:c.1665A>C, NM_130835.2:c.1665A>C, NM_130836.1:c.1719A>C, NM_130836.2:c.1719A>C, NM_130837.1:c.1773A>C, NM_130837.2:c.1773A>CBenign04/06/2016 
99OPA1Ex17NM_015560.2:c.1621C>Tp.Gln538* | p.Q538XLRG_337t1:c.1621C>T, LRG_337t2:c.1786C>T, NM_015560.1:c.1621C>T, NM_015560.2:c.1621C>T, NM_130831.1:c.1513C>T, NM_130831.2:c.1513C>T, NM_130832.1:c.1567C>T, NM_130832.2:c.1567C>T, NM_130833.1:c.1624C>T, NM_130833.2:c.1624C>T, NM_130834.1:c.1675C>T, NM_130834.2:c.1675C>T, NM_130835.1:c.1678C>T, NM_130835.2:c.1678C>T, NM_130836.1:c.1732C>T, NM_130836.2:c.1732C>T, NM_130837.1:c.1786C>T, NM_130837.2:c.1786C>T, XM_005247500.1:c.1786C>T, XM_005247501.1:c.1732C>T, XM_005247502.1:c.1675C>T, XM_005247503.1:c.1624C>T, XM_005247504.1:c.1621C>T, XR_241638.1:n.*100G>APathogenic** 
100OPA1Ex17NM_015560.2:c.1635C>Ap.Ser545Arg | p.S545RPathogenic12/28/2012 
101OPA1Ex17NM_015560.2:c.1645T>Cp.Ser549Pro | p.S549PLRG_337t1:c.1645T>C, LRG_337t2:c.1810T>C, NM_015560.1:c.1645T>C, NM_015560.2:c.1645T>C, NM_130831.1:c.1537T>C, NM_130831.2:c.1537T>C, NM_130832.1:c.1591T>C, NM_130832.2:c.1591T>C, NM_130833.1:c.1648T>C, NM_130833.2:c.1648T>C, NM_130834.1:c.1699T>C, NM_130834.2:c.1699T>C, NM_130835.1:c.1702T>C, NM_130835.2:c.1702T>C, NM_130836.1:c.1756T>C, NM_130836.2:c.1756T>C, NM_130837.1:c.1810T>C, NM_130837.2:c.1810T>C, XM_005247500.1:c.1810T>C, XM_005247501.1:c.1756T>C, XM_005247502.1:c.1699T>C, XM_005247503.1:c.1648T>C, XM_005247504.1:c.1645T>C, XR_241638.1:n.*76A>GVOUS09/08/2020
102OPA1Ex17NM_015560.2:c.1669C>Tp.Arg557* | p.R557XLRG_337t1:c.1669C>T, LRG_337t2:c.1834C>T, NM_015560.1:c.1669C>T, NM_015560.2:c.1669C>T, NM_130831.1:c.1561C>T, NM_130831.2:c.1561C>T, NM_130832.1:c.1615C>T, NM_130832.2:c.1615C>T, NM_130833.1:c.1672C>T, NM_130833.2:c.1672C>T, NM_130834.1:c.1723C>T, NM_130834.2:c.1723C>T, NM_130835.1:c.1726C>T, NM_130835.2:c.1726C>T, NM_130836.1:c.1780C>T, NM_130836.2:c.1780C>T, NM_130837.1:c.1834C>T, NM_130837.2:c.1834C>T, XM_005247500.1:c.1834C>T, XM_005247501.1:c.1780C>T, XM_005247502.1:c.1723C>T, XM_005247503.1:c.1672C>T, XM_005247504.1:c.1669C>T, XR_241638.1:n.*52G>APathogenic03/01/2017 
103OPA1Ex17NM_015560.2:c.1700_1701delTCinsGGATTTTTTp.Phe567Trpfs*4 | p.F567WfsX4LRG_337t1:c.1700_1701delinsGGATTTTTT, LRG_337t2:c.1865_1866delinsGGATTTTTT, NM_015560.1:c.1700_1701delinsGGATTTTTT, NM_015560.2:c.1700_1701delinsGGATTTTTT, NM_130831.1:c.1592_1593delinsGGATTTTTT, NM_130831.2:c.1592_1593delinsGGATTTTTT, NM_130832.1:c.1646_1647delinsGGATTTTTT, NM_130832.2:c.1646_1647delinsGGATTTTTT, NM_130833.1:c.1703_1704delinsGGATTTTTT, NM_130833.2:c.1703_1704delinsGGATTTTTT, NM_130834.1:c.1754_1755delinsGGATTTTTT, NM_130834.2:c.1754_1755delinsGGATTTTTT, NM_130835.1:c.1757_1758delinsGGATTTTTT, NM_130835.2:c.1757_1758delinsGGATTTTTT, NM_130836.1:c.1811_1812delinsGGATTTTTT, NM_130836.2:c.1811_1812delinsGGATTTTTT, NM_130837.1:c.1865_1866delinsGGATTTTTT, NM_130837.2:c.1865_1866delinsGGATTTTTT, XM_005247500.1:c.1865_1866delinsGGATTTTTT, XM_005247501.1:c.1811_1812delinsGGATTTTTT, XM_005247502.1:c.1754_1755delinsGGATTTTTT, XM_005247503.1:c.1703_1704delinsGGATTTTTT, XM_005247504.1:c.1700_1701delinsGGATTTTTT, XR_241638.1:n.*20_*21delinsAAAAAATCCPathogenic04/05/2019 
104OPA1Ex17NM_015560.2:c.1705+36G>AVOUS**
105OPA1Ex18NM_015560.2:c.1712G>Ap.Arg571His | p.R571HNM_015560.1:c.1712G>A, NM_015560.2:c.1712G>A, NM_130831.1:c.1604G>A, NM_130831.2:c.1604G>A, NM_130832.1:c.1658G>A, NM_130832.2:c.1658G>A, NM_130833.1:c.1715G>A, NM_130833.2:c.1715G>A, NM_130834.1:c.1766G>A, NM_130834.2:c.1766G>A, NM_130835.1:c.1769G>A, NM_130835.2:c.1769G>A, NM_130836.1:c.1823G>A, NM_130836.2:c.1823G>A, NM_130837.1:c.1877G>A, NM_130837.2:c.1877G>AVOUS01/19/2014
106OPA1Ex18NM_015560.2:c.1770+3A>GLRG_337t1:c.1770+3A>G, LRG_337t2:c.1935+3A>G, NM_015560.1:c.1770+3A>G, NM_015560.2:c.1770+3A>G, NM_130831.1:c.1662+3A>G, NM_130831.2:c.1662+3A>G, NM_130832.1:c.1716+3A>G, NM_130832.2:c.1716+3A>G, NM_130833.1:c.1773+3A>G, NM_130833.2:c.1773+3A>G, NM_130834.1:c.1824+3A>G, NM_130834.2:c.1824+3A>G, NM_130835.1:c.1827+3A>G, NM_130835.2:c.1827+3A>G, NM_130836.1:c.1881+3A>G, NM_130836.2:c.1881+3A>G, NM_130837.1:c.1935+3A>G, NM_130837.2:c.1935+3A>G, XM_005247500.1:c.1935+3A>G, XM_005247501.1:c.1881+3A>G, XM_005247502.1:c.1824+3A>G, XM_005247503.1:c.1773+3A>G, XM_005247504.1:c.1770+3A>G, XR_241638.1:n.194-827T>CLikely pathogenic12/20/2019 
107OPA1Ex18NM_015560.2:c.1770+16T>GLRG_337t1:c.1770+16T>G, LRG_337t2:c.1935+16T>G, NM_015560.1:c.1770+16T>G, NM_015560.2:c.1770+16T>G, NM_130831.1:c.1662+16T>G, NM_130831.2:c.1662+16T>G, NM_130832.1:c.1716+16T>G, NM_130832.2:c.1716+16T>G, NM_130833.1:c.1773+16T>G, NM_130833.2:c.1773+16T>G, NM_130834.1:c.1824+16T>G, NM_130834.2:c.1824+16T>G, NM_130835.1:c.1827+16T>G, NM_130835.2:c.1827+16T>G, NM_130836.1:c.1881+16T>G, NM_130836.2:c.1881+16T>G, NM_130837.1:c.1935+16T>G, NM_130837.2:c.1935+16T>GBenign02/05/2016 
108OPA1Ex18NM_015560.2:c.1770+18G>ABenign** 
109OPA1Ex18NM_015560.2:c.1770+47T>ALRG_337t1:c.1770+47T>A, LRG_337t2:c.1935+47T>A, NM_015560.1:c.1770+47T>A, NM_015560.2:c.1770+47T>A, NM_130831.1:c.1662+47T>A, NM_130831.2:c.1662+47T>A, NM_130832.1:c.1716+47T>A, NM_130832.2:c.1716+47T>A, NM_130833.1:c.1773+47T>A, NM_130833.2:c.1773+47T>A, NM_130834.1:c.1824+47T>A, NM_130834.2:c.1824+47T>A, NM_130835.1:c.1827+47T>A, NM_130835.2:c.1827+47T>A, NM_130836.1:c.1881+47T>A, NM_130836.2:c.1881+47T>A, NM_130837.1:c.1935+47T>A, NM_130837.2:c.1935+47T>A, XM_005247500.1:c.1935+47T>A, XM_005247501.1:c.1881+47T>A, XM_005247502.1:c.1824+47T>A, XM_005247503.1:c.1773+47T>A, XM_005247504.1:c.1770+47T>A, XR_241638.1:n.194-871A>TVOUS**
110OPA1Ex18NM_015560.2:c.1770+51T>GBenign** 
111OPA1Ex19NM_015560.2:c.1771-2A>GLRG_337t1:c.1771-2A>G, LRG_337t2:c.1936-2A>G, NM_015560.1:c.1771-2A>G, NM_015560.2:c.1771-2A>G, NM_130831.1:c.1663-2A>G, NM_130831.2:c.1663-2A>G, NM_130832.1:c.1717-2A>G, NM_130832.2:c.1717-2A>G, NM_130833.1:c.1774-2A>G, NM_130833.2:c.1774-2A>G, NM_130834.1:c.1825-2A>G, NM_130834.2:c.1825-2A>G, NM_130835.1:c.1828-2A>G, NM_130835.2:c.1828-2A>G, NM_130836.1:c.1882-2A>G, NM_130836.2:c.1882-2A>G, NM_130837.1:c.1936-2A>G, NM_130837.2:c.1936-2A>G, XM_005247500.1:c.1936-2A>G, XM_005247501.1:c.1882-2A>G, XM_005247502.1:c.1825-2A>G, XM_005247503.1:c.1774-2A>G, XM_005247504.1:c.1771-2A>G, XR_241638.1:n.194-1483T>CPathogenic03/03/2017 
112OPA1Ex19NM_015560.2:c.1781T>Cp.Phe594Ser | p.F594SNM_015560.1:c.1781T>C, NM_015560.2:c.1781T>C, NM_130831.1:c.1673T>C, NM_130831.2:c.1673T>C, NM_130832.1:c.1727T>C, NM_130832.2:c.1727T>C, NM_130833.1:c.1784T>C, NM_130833.2:c.1784T>C, NM_130834.1:c.1835T>C, NM_130834.2:c.1835T>C, NM_130835.1:c.1838T>C, NM_130835.2:c.1838T>C, NM_130836.1:c.1892T>C, NM_130836.2:c.1892T>C, NM_130837.1:c.1946T>C, NM_130837.2:c.1946T>C, XM_005247500.1:c.1946T>C, XM_005247501.1:c.1892T>C, XM_005247502.1:c.1835T>C, XM_005247503.1:c.1784T>C, XM_005247504.1:c.1781T>C, XR_241638.1:n.194-1495A>GVOUS09/01/2015
113OPA1Ex19NM_015560.2:c.1847+48G>AVOUS**
114OPA1Ex20NM_015560.2:c.1848-3C>GVOUS**
115OPA1Ex20NM_015560.2:c.1884A>Gp.Val628= | p.V628=NM_015560.1:c.1884A>G, NM_015560.2:c.1884A>G, NM_130831.1:c.1776A>G, NM_130831.2:c.1776A>G, NM_130832.1:c.1830A>G, NM_130832.2:c.1830A>G, NM_130833.1:c.1887A>G, NM_130833.2:c.1887A>G, NM_130834.1:c.1938A>G, NM_130834.2:c.1938A>G, NM_130835.1:c.1941A>G, NM_130835.2:c.1941A>G, NM_130836.1:c.1995A>G, NM_130836.2:c.1995A>G, NM_130837.1:c.2049A>G, NM_130837.2:c.2049A>GBenign01/11/2013 
116OPA1Ex20NM_015560.2:c.1892_1893delATPathogenic** 
117OPA1Ex20NM_015560.2:c.1923G>Ap.Ala641= | p.A641=NM_015560.1:c.1923G>A, NM_015560.2:c.1923G>A, NM_130831.1:c.1815G>A, NM_130831.2:c.1815G>A, NM_130832.1:c.1869G>A, NM_130832.2:c.1869G>A, NM_130833.1:c.1926G>A, NM_130833.2:c.1926G>A, NM_130834.1:c.1977G>A, NM_130834.2:c.1977G>A, NM_130835.1:c.1980G>A, NM_130835.2:c.1980G>A, NM_130836.1:c.2034G>A, NM_130836.2:c.2034G>A, NM_130837.1:c.2088G>A, NM_130837.2:c.2088G>A, XM_005247500.1:c.2088G>A, XM_005247501.1:c.2034G>A, XM_005247502.1:c.1977G>A, XM_005247503.1:c.1926G>A, XM_005247504.1:c.1923G>A, XR_241638.1:n.194-7627C>TVOUS10/23/2014
118OPA1Ex20NM_015560.2:c.2013+1G>ALRG_337t1:c.2013+1G>A, LRG_337t2:c.2178+1G>A, NM_015560.1:c.2013+1G>A, NM_015560.2:c.2013+1G>A, NM_130831.1:c.1905+1G>A, NM_130831.2:c.1905+1G>A, NM_130832.1:c.1959+1G>A, NM_130832.2:c.1959+1G>A, NM_130833.1:c.2016+1G>A, NM_130833.2:c.2016+1G>A, NM_130834.1:c.2067+1G>A, NM_130834.2:c.2067+1G>A, NM_130835.1:c.2070+1G>A, NM_130835.2:c.2070+1G>A, NM_130836.1:c.2124+1G>A, NM_130836.2:c.2124+1G>A, NM_130837.1:c.2178+1G>A, NM_130837.2:c.2178+1G>A, XM_005247500.1:c.2178+1G>A, XM_005247501.1:c.2124+1G>A, XM_005247502.1:c.2067+1G>A, XM_005247503.1:c.2016+1G>A, XM_005247504.1:c.2013+1G>A, XR_241638.1:n.194-7718C>TPathogenic08/07/2017 
119OPA1Ex21NM_015560.2:c.2014-24T>GBenign** 
120OPA1Ex21NM_015560.2:c.2014-23T>CBenign** 
121OPA1Ex21NM_015560.2:c.2038G>Tp.Glu680* | p.E680XPathogenic** 
122OPA1Ex21NM_015560.2:c.2059_2060delGANM_015560.1:c.2059_2060delGA, NM_015560.2:c.2059_2060delGA, NM_130831.1:c.1951_1952delGA, NM_130831.2:c.1951_1952delGA, NM_130832.1:c.2005_2006delGA, NM_130832.2:c.2005_2006delGA, NM_130833.1:c.2062_2063delGA, NM_130833.2:c.2062_2063delGA, NM_130834.1:c.2113_2114delGA, NM_130834.2:c.2113_2114delGA, NM_130835.1:c.2116_2117delGA, NM_130835.2:c.2116_2117delGA, NM_130836.1:c.2170_2171delGA, NM_130836.2:c.2170_2171delGA, NM_130837.1:c.2224_2225delGA, NM_130837.2:c.2224_2225delGA, XM_005247500.1:c.2224_2225delGA, XM_005247501.1:c.2170_2171delGA, XM_005247502.1:c.2113_2114delGA, XM_005247503.1:c.2062_2063delGA, XM_005247504.1:c.2059_2060delGA, XR_241638.1:n.194-9816_194-9815delTCPathogenic01/07/2015 
123OPA1Ex21NM_015560.2:c.2109T>Cp.Ala703= | p.A703=LRG_337t1:c.2109T>C, LRG_337t2:c.2274T>C, NM_015560.1:c.2109T>C, NM_015560.2:c.2109T>C, NM_130831.1:c.2001T>C, NM_130831.2:c.2001T>C, NM_130832.1:c.2055T>C, NM_130832.2:c.2055T>C, NM_130833.1:c.2112T>C, NM_130833.2:c.2112T>C, NM_130834.1:c.2163T>C, NM_130834.2:c.2163T>C, NM_130835.1:c.2166T>C, NM_130835.2:c.2166T>C, NM_130836.1:c.2220T>C, NM_130836.2:c.2220T>C, NM_130837.1:c.2274T>C, NM_130837.2:c.2274T>C, XM_005247500.1:c.2274T>C, XM_005247501.1:c.2220T>C, XM_005247502.1:c.2163T>C, XM_005247503.1:c.2112T>C, XM_005247504.1:c.2109T>C, XR_241638.1:n.194-9865A>GBenign12/23/2015 
124OPA1Ex21NM_015560.2:c.2114T>Cp.Leu705= | p.L705=Benign** 
125OPA1Ex21NM_015560.2:c.2122delAp.Ser708Valfs*15 | p.S708VfsX15LRG_337t1:c.2122delA, LRG_337t2:c.2287delA, NM_015560.1:c.2122delA, NM_015560.2:c.2122delA, NM_130831.1:c.2014delA, NM_130831.2:c.2014delA, NM_130832.1:c.2068delA, NM_130832.2:c.2068delA, NM_130833.1:c.2125delA, NM_130833.2:c.2125delA, NM_130834.1:c.2176delA, NM_130834.2:c.2176delA, NM_130835.1:c.2179delA, NM_130835.2:c.2179delA, NM_130836.1:c.2233delA, NM_130836.2:c.2233delA, NM_130837.1:c.2287delA, NM_130837.2:c.2287delA, XM_005247500.1:c.2287delA, XM_005247501.1:c.2233delA, XM_005247502.1:c.2176delA, XM_005247503.1:c.2125delA, XM_005247504.1:c.2122delA, XR_241638.1:n.194-9878delTPathogenic01/14/2021 
126OPA1Ex21NM_015560.2:c.2124_2141delTATTAAACGACACAAGTGLRG_337t1:c.2124_2141deltattaaacgacacaagtg, LRG_337t2:c.2289_2306deltattaaacgacacaagtg, NM_015560.1:c.2124_2141deltattaaacgacacaagtg, NM_015560.2:c.2124_2141deltattaaacgacacaagtg, NM_130831.1:c.2016_2033deltattaaacgacacaagtg, NM_130831.2:c.2016_2033deltattaaacgacacaagtg, NM_130832.1:c.2070_2087deltattaaacgacacaagtg, NM_130832.2:c.2070_2087deltattaaacgacacaagtg, NM_130833.1:c.2127_2144deltattaaacgacacaagtg, NM_130833.2:c.2127_2144deltattaaacgacacaagtg, NM_130834.1:c.2178_2195deltattaaacgacacaagtg, NM_130834.2:c.2178_2195deltattaaacgacacaagtg, NM_130835.1:c.2181_2198deltattaaacgacacaagtg, NM_130835.2:c.2181_2198deltattaaacgacacaagtg, NM_130836.1:c.2235_2252deltattaaacgacacaagtg, NM_130836.2:c.2235_2252deltattaaacgacacaagtg, NM_130837.1:c.2289_2306deltattaaacgacacaagtg, NM_130837.2:c.2289_2306deltattaaacgacacaagtg, XM_005247500.1:c.2289_2306deltattaaacgacacaagtg, XM_005247501.1:c.2235_2252deltattaaacgacacaagtg, XM_005247502.1:c.2178_2195deltattaaacgacacaagtg, XM_005247503.1:c.2127_2144dVOUS02/29/2016
127OPA1Ex22NM_015560.2:c.2167-19C>ALikely benign04/01/2013 
128OPA1Ex22NM_015560.2:c.2167-3C>TVOUS**
129OPA1Ex22NM_015560.2:c.2255T>Cp.Leu752Pro | p.L752PLRG_337t1:c.2255T>C, LRG_337t2:c.2420T>C, NM_015560.1:c.2255T>C, NM_015560.2:c.2255T>C, NM_130831.1:c.2147T>C, NM_130831.2:c.2147T>C, NM_130832.1:c.2201T>C, NM_130832.2:c.2201T>C, NM_130833.1:c.2258T>C, NM_130833.2:c.2258T>C, NM_130834.1:c.2309T>C, NM_130834.2:c.2309T>C, NM_130835.1:c.2312T>C, NM_130835.2:c.2312T>C, NM_130836.1:c.2366T>C, NM_130836.2:c.2366T>C, NM_130837.1:c.2420T>C, NM_130837.2:c.2420T>C, XM_005247500.1:c.2420T>C, XM_005247501.1:c.2366T>C, XM_005247502.1:c.2309T>C, XM_005247503.1:c.2258T>C, XM_005247504.1:c.2255T>C, XR_241638.1:n.193+9945A>GVOUS07/05/2018
130OPA1Ex22NM_015560.2:c.2256G>Tp.Leu752= | p.L752=NM_015560.1:c.2256G>T, NM_015560.2:c.2256G>T, NM_130831.1:c.2148G>T, NM_130831.2:c.2148G>T, NM_130832.1:c.2202G>T, NM_130832.2:c.2202G>T, NM_130833.1:c.2259G>T, NM_130833.2:c.2259G>T, NM_130834.1:c.2310G>T, NM_130834.2:c.2310G>T, NM_130835.1:c.2313G>T, NM_130835.2:c.2313G>T, NM_130836.1:c.2367G>T, NM_130836.2:c.2367G>T, NM_130837.1:c.2421G>T, NM_130837.2:c.2421G>TVOUS11/19/2013
131OPA1Ex22NM_015560.2:c.2257C>Tp.Gln753* | p.Q753XPathogenic04/17/2013 
132OPA1Ex23NM_015560.2:c.2276-4C>GNM_015560.1:c.2276-4C>G, NM_015560.2:c.2276-4C>G, NM_130831.1:c.2168-4C>G, NM_130831.2:c.2168-4C>G, NM_130832.1:c.2222-4C>G, NM_130832.2:c.2222-4C>G, NM_130833.1:c.2279-4C>G, NM_130833.2:c.2279-4C>G, NM_130834.1:c.2330-4C>G, NM_130834.2:c.2330-4C>G, NM_130835.1:c.2333-4C>G, NM_130835.2:c.2333-4C>G, NM_130836.1:c.2387-4C>G, NM_130836.2:c.2387-4C>G, NM_130837.1:c.2441-4C>G, NM_130837.2:c.2441-4C>G, XM_005247500.1:c.2441-4C>G, XM_005247501.1:c.2387-4C>G, XM_005247502.1:c.2330-4C>G, XM_005247503.1:c.2279-4C>G, XM_005247504.1:c.2276-4C>G, XR_241638.1:n.193+9442G>CVOUS03/05/2015
133OPA1Ex23NM_015560.2:c.2355+13A>GNM_015560.1:c.2355+13A>G, NM_015560.2:c.2355+13A>G, NM_130831.1:c.2247+13A>G, NM_130831.2:c.2247+13A>G, NM_130832.1:c.2301+13A>G, NM_130832.2:c.2301+13A>G, NM_130833.1:c.2358+13A>G, NM_130833.2:c.2358+13A>G, NM_130834.1:c.2409+13A>G, NM_130834.2:c.2409+13A>G, NM_130835.1:c.2412+13A>G, NM_130835.2:c.2412+13A>G, NM_130836.1:c.2466+13A>G, NM_130836.2:c.2466+13A>G, NM_130837.1:c.2520+13A>G, NM_130837.2:c.2520+13A>G, XM_005247500.1:c.2520+13A>G, XM_005247501.1:c.2466+13A>G, XM_005247502.1:c.2409+13A>G, XM_005247503.1:c.2358+13A>G, XM_005247504.1:c.2355+13A>G, XR_241638.1:n.193+9346T>CVOUS05/19/2014
134OPA1Ex24NM_015560.2:c.2382_2383delATp.Glu794Aspfs*8 | p.E794DfsX8LRG_337t1:c.2382_2383delAT, LRG_337t2:c.2547_2548delAT, NM_015560.1:c.2382_2383delAT, NM_015560.2:c.2382_2383delAT, NM_130831.1:c.2274_2275delAT, NM_130831.2:c.2274_2275delAT, NM_130832.1:c.2328_2329delAT, NM_130832.2:c.2328_2329delAT, NM_130833.1:c.2385_2386delAT, NM_130833.2:c.2385_2386delAT, NM_130834.1:c.2436_2437delAT, NM_130834.2:c.2436_2437delAT, NM_130835.1:c.2439_2440delAT, NM_130835.2:c.2439_2440delAT, NM_130836.1:c.2493_2494delAT, NM_130836.2:c.2493_2494delAT, NM_130837.1:c.2547_2548delAT, NM_130837.2:c.2547_2548delAT, XM_005247500.1:c.2547_2548delAT, XM_005247501.1:c.2493_2494delAT, XM_005247502.1:c.2436_2437delAT, XM_005247503.1:c.2385_2386delAT, XM_005247504.1:c.2382_2383delAT, XR_241638.1:n.193+6071_193+6072delATPathogenic09/20/2017 
135OPA1Ex24NM_015560.2:c.2445C>Tp.Thr815= | p.T815=LRG_337t1:c.2445C>T, LRG_337t2:c.2610C>T, NM_015560.1:c.2445C>T, NM_015560.2:c.2445C>T, NM_130831.1:c.2337C>T, NM_130831.2:c.2337C>T, NM_130832.1:c.2391C>T, NM_130832.2:c.2391C>T, NM_130833.1:c.2448C>T, NM_130833.2:c.2448C>T, NM_130834.1:c.2499C>T, NM_130834.2:c.2499C>T, NM_130835.1:c.2502C>T, NM_130835.2:c.2502C>T, NM_130836.1:c.2556C>T, NM_130836.2:c.2556C>T, NM_130837.1:c.2610C>T, NM_130837.2:c.2610C>T, XM_005247500.1:c.2610C>T, XM_005247501.1:c.2556C>T, XM_005247502.1:c.2499C>T, XM_005247503.1:c.2448C>T, XM_005247504.1:c.2445C>T, XR_241638.1:n.193+6009G>AVOUS01/19/2017
136OPA1Ex24NM_015560.2:c.2452C>Tp.Arg818Trp | p.R818WVOUS**
137OPA1Ex24NM_015560.2:c.2496+1G>TLRG_337t1:c.2496+1G>T, LRG_337t2:c.2661+1G>T, NM_015560.1:c.2496+1G>T, NM_015560.2:c.2496+1G>T, NM_130831.1:c.2388+1G>T, NM_130831.2:c.2388+1G>T, NM_130832.1:c.2442+1G>T, NM_130832.2:c.2442+1G>T, NM_130833.1:c.2499+1G>T, NM_130833.2:c.2499+1G>T, NM_130834.1:c.2550+1G>T, NM_130834.2:c.2550+1G>T, NM_130835.1:c.2553+1G>T, NM_130835.2:c.2553+1G>T, NM_130836.1:c.2607+1G>T, NM_130836.2:c.2607+1G>T, NM_130837.1:c.2661+1G>T, NM_130837.2:c.2661+1G>T, XM_005247500.1:c.2661+1G>T, XM_005247501.1:c.2607+1G>T, XM_005247502.1:c.2550+1G>T, XM_005247503.1:c.2499+1G>T, XM_005247504.1:c.2496+1G>T, XR_241638.1:n.193+5957C>APathogenic09/28/2017 
138OPA1Ex24NM_015560.2:c.2496+25T>ABenign** 
139OPA1Ex25NM_015560.2:c.2564T>Gp.Leu855Arg | p.L855RLRG_337t1:c.2564T>G, LRG_337t2:c.2729T>G, NM_015560.1:c.2564T>G, NM_015560.2:c.2564T>G, NM_130831.1:c.2456T>G, NM_130831.2:c.2456T>G, NM_130832.1:c.2510T>G, NM_130832.2:c.2510T>G, NM_130833.1:c.2567T>G, NM_130833.2:c.2567T>G, NM_130834.1:c.2618T>G, NM_130834.2:c.2618T>G, NM_130835.1:c.2621T>G, NM_130835.2:c.2621T>G, NM_130836.1:c.2675T>G, NM_130836.2:c.2675T>G, NM_130837.1:c.2729T>G, NM_130837.2:c.2729T>G, XM_005247500.1:c.2729T>G, XM_005247501.1:c.2675T>G, XM_005247502.1:c.2618T>G, XM_005247503.1:c.2567T>G, XM_005247504.1:c.2564T>G, XR_241638.1:n.193+3973A>CVOUS09/28/2017
140OPA1Ex25NM_015560.2:c.2569C>Tp.Arg857* | p.R857XNM_015560.1:c.2569C>T, NM_015560.2:c.2569C>T, NM_130831.1:c.2461C>T, NM_130831.2:c.2461C>T, NM_130832.1:c.2515C>T, NM_130832.2:c.2515C>T, NM_130833.1:c.2572C>T, NM_130833.2:c.2572C>T, NM_130834.1:c.2623C>T, NM_130834.2:c.2623C>T, NM_130835.1:c.2626C>T, NM_130835.2:c.2626C>T, NM_130836.1:c.2680C>T, NM_130836.2:c.2680C>T, NM_130837.1:c.2734C>T, NM_130837.2:c.2734C>T, XM_005247500.1:c.2734C>T, XM_005247501.1:c.2680C>T, XM_005247502.1:c.2623C>T, XM_005247503.1:c.2572C>T, XM_005247504.1:c.2569C>T, XR_241638.1:n.193+3968G>APathogenic06/02/2014 
141OPA1Ex25NM_015560.2:c.2613+11C>GLRG_337t1:c.2613+11C>G, LRG_337t2:c.2778+11C>G, NM_015560.1:c.2613+11C>G, NM_015560.2:c.2613+11C>G, NM_130831.1:c.2505+11C>G, NM_130831.2:c.2505+11C>G, NM_130832.1:c.2559+11C>G, NM_130832.2:c.2559+11C>G, NM_130833.1:c.2616+11C>G, NM_130833.2:c.2616+11C>G, NM_130834.1:c.2667+11C>G, NM_130834.2:c.2667+11C>G, NM_130835.1:c.2670+11C>G, NM_130835.2:c.2670+11C>G, NM_130836.1:c.2724+11C>G, NM_130836.2:c.2724+11C>G, NM_130837.1:c.2778+11C>G, NM_130837.2:c.2778+11C>G, XM_005247500.1:c.2778+11C>G, XM_005247501.1:c.2724+11C>G, XM_005247502.1:c.2667+11C>G, XM_005247503.1:c.2616+11C>G, XM_005247504.1:c.2613+11C>G, XR_241638.1:n.193+3913G>CBenign07/18/2012 
142OPA1Ex25NM_015560.2:c.2873_2876delTTAGNM_015560.1:c.2613+260_2613+263delTTAG, NM_015560.2:c.2613+260_2613+263delTTAG, NM_130831.1:c.2505+260_2505+263delTTAG, NM_130831.2:c.2505+260_2505+263delTTAG, NM_130832.1:c.2559+260_2559+263delTTAG, NM_130832.2:c.2559+260_2559+263delTTAG, NM_130833.1:c.2616+260_2616+263delTTAG, NM_130833.2:c.2616+260_2616+263delTTAG, NM_130834.1:c.2667+260_2667+263delTTAG, NM_130834.2:c.2667+260_2667+263delTTAG, NM_130835.1:c.2670+260_2670+263delTTAG, NM_130835.2:c.2670+260_2670+263delTTAG, NM_130836.1:c.2724+260_2724+263delTTAG, NM_130836.2:c.2724+260_2724+263delTTAG, NM_130837.1:c.2778+260_2778+263delTTAG, NM_130837.2:c.2778+260_2778+263delTTAG, XM_005247500.1:c.2778+260_2778+263delTTAG, XM_005247501.1:c.2724+260_2724+263delTTAG, XM_005247502.1:c.2667+260_2667+263delTTAG, XM_005247503.1:c.2616+260_2616+263delTTAG, XM_005247504.1:c.2613+260_2613+263delTTAG, XR_241638.1:n.193+3661_193+3664delCTAAPathogenic** 
143OPA1Ex26NM_015560.2:c.2651dupAp.Arg885Alafs*18 | p.R885AfsX18LRG_337t1:c.2651dupA, LRG_337t2:c.2816dupA, NM_015560.1:c.2651_2652insA, NM_015560.1:c.2651dupA, NM_015560.2:c.2651_2652insA, NM_015560.2:c.2651dupA, NM_130831.1:c.2543_2544insA, NM_130831.1:c.2543dupA, NM_130831.2:c.2543_2544insA, NM_130831.2:c.2543dupA, NM_130832.1:c.2597_2598insA, NM_130832.1:c.2597dupA, NM_130832.2:c.2597_2598insA, NM_130832.2:c.2597dupA, NM_130833.1:c.2654_2655insA, NM_130833.1:c.2654dupA, NM_130833.2:c.2654_2655insA, NM_130833.2:c.2654dupA, NM_130834.1:c.2705_2706insA, NM_130834.1:c.2705dupA, NM_130834.2:c.2705_2706insA, NM_130834.2:c.2705dupA, NM_130835.1:c.2708_2709insA, NM_130835.1:c.2708dupA, NM_130835.2:c.2708_2709insA, NM_130835.2:c.2708dupA, NM_130836.1:c.2762_2763insA, NM_130836.1:c.2762dupA, NM_130836.2:c.2762_2763insA, NM_130836.2:c.2762dupA, NM_130837.1:c.2816_2817insA, NM_130837.1:c.2816dupA, NM_130837.2:c.2816_2817insA, NM_130837.2:c.2816dupA, XM_005247500.1:c.2816_2817insA, XM_005247500.1:c.2816dupA, XM_005247501.1:c.2762_2763insA, XM_005247501.1:Pathogenic02/03/2016 
144OPA1Ex26NM_015560.2:c.2707+15G>CVOUS**
145OPA1Ex26NM_015560.2:c.2707+25T>ABenign** 
146OPA1Ex27NM_015560.2:c.2708-17A>GVOUS**
147OPA1Ex27NM_015560.2:c.2708_2711delTTAGp.Val903Glyfs*3 | p.V903GfsX3LRG_337t1:c.2708_2711delTTAG, LRG_337t2:c.2873_2876delTTAG, NM_015560.1:c.2708_2711delTTAG, NM_015560.2:c.2708_2711delTTAG, NM_130831.1:c.2600_2603delTTAG, NM_130831.2:c.2600_2603delTTAG, NM_130832.1:c.2654_2657delTTAG, NM_130832.2:c.2654_2657delTTAG, NM_130833.1:c.2711_2714delTTAG, NM_130833.2:c.2711_2714delTTAG, NM_130834.1:c.2762_2765delTTAG, NM_130834.2:c.2762_2765delTTAG, NM_130835.1:c.2765_2768delTTAG, NM_130835.2:c.2765_2768delTTAG, NM_130836.1:c.2819_2822delTTAG, NM_130836.2:c.2819_2822delTTAG, NM_130837.1:c.2873_2876delTTAG, NM_130837.2:c.2873_2876delTTAG, XM_005247500.1:c.2873_2876delTTAG, XM_005247501.1:c.2819_2822delTTAG, XM_005247502.1:c.2762_2765delTTAG, XM_005247503.1:c.2711_2714delTTAG, XM_005247504.1:c.2708_2711delTTAG, XR_241638.1:n.193+1747_193+1750delCTAAPathogenic06/20/2019 
148OPA1Ex27NM_015560.2:c.2738_2742delTATTGPathogenic** 
149OPA1Ex27NM_015560.2:c.2796C>Tp.Arg932= | p.R932=NM_015560.1:c.2796C>T, NM_015560.2:c.2796C>T, NM_130831.1:c.2688C>T, NM_130831.2:c.2688C>T, NM_130832.1:c.2742C>T, NM_130832.2:c.2742C>T, NM_130833.1:c.2799C>T, NM_130833.2:c.2799C>T, NM_130834.1:c.2850C>T, NM_130834.2:c.2850C>T, NM_130835.1:c.2853C>T, NM_130835.2:c.2853C>T, NM_130836.1:c.2907C>T, NM_130836.2:c.2907C>T, NM_130837.1:c.2961C>T, NM_130837.2:c.2961C>TBenign01/11/2013 
150OPA1Ex27NM_015560.2:c.2808G>Ap.Ala936= | p.A936=Benign** 
151OPA1Ex27NM_015560.2:c.2818+1G>APathogenic** 
152OPA1Ex27NM_015560.2:c.2818+23T>CNM_015560.1:c.2818+23T>C, NM_015560.2:c.2818+23T>C, NM_130831.1:c.2710+23T>C, NM_130831.2:c.2710+23T>C, NM_130832.1:c.2764+23T>C, NM_130832.2:c.2764+23T>C, NM_130833.1:c.2821+23T>C, NM_130833.2:c.2821+23T>C, NM_130834.1:c.2872+23T>C, NM_130834.2:c.2872+23T>C, NM_130835.1:c.2875+23T>C, NM_130835.2:c.2875+23T>C, NM_130836.1:c.2929+23T>C, NM_130836.2:c.2929+23T>C, NM_130837.1:c.2983+23T>C, NM_130837.2:c.2983+23T>C, XM_005247500.1:c.2983+23T>C, XM_005247501.1:c.2929+23T>C, XM_005247502.1:c.2872+23T>C, XM_005247503.1:c.2821+23T>C, XM_005247504.1:c.2818+23T>C, XR_241638.1:n.193+1617A>GBenign** 
153OPA1Ex28NM_015560.2:c.2822_2823delAANM_015560.1:c.2822_2823delAA, NM_015560.2:c.2822_2823delAA, NM_130831.1:c.2714_2715delAA, NM_130831.2:c.2714_2715delAA, NM_130832.1:c.2768_2769delAA, NM_130832.2:c.2768_2769delAA, NM_130833.1:c.2825_2826delAA, NM_130833.2:c.2825_2826delAA, NM_130834.1:c.2876_2877delAA, NM_130834.2:c.2876_2877delAA, NM_130835.1:c.2879_2880delAA, NM_130835.2:c.2879_2880delAA, NM_130836.1:c.2933_2934delAA, NM_130836.2:c.2933_2934delAA, NM_130837.1:c.2987_2988delAA, NM_130837.2:c.2987_2988delAAPathogenic12/23/2015 
154OPA1Ex28NM_015560.2:c.2825_2828delTTAGp.Val942Glufs*25 | p.V942EfsX25LRG_337t1:c.2825_2828delTTAG, LRG_337t2:c.2990_2993delTTAG, NM_015560.1:c.2825_2828delTTAG, NM_015560.2:c.2825_2828delTTAG, NM_130831.1:c.2717_2720delTTAG, NM_130831.2:c.2717_2720delTTAG, NM_130832.1:c.2771_2774delTTAG, NM_130832.2:c.2771_2774delTTAG, NM_130833.1:c.2828_2831delTTAG, NM_130833.2:c.2828_2831delTTAG, NM_130834.1:c.2879_2882delTTAG, NM_130834.2:c.2879_2882delTTAG, NM_130835.1:c.2882_2885delTTAG, NM_130835.2:c.2882_2885delTTAG, NM_130836.1:c.2936_2939delTTAG, NM_130836.2:c.2936_2939delTTAG, NM_130837.1:c.2990_2993delTTAG, NM_130837.2:c.2990_2993delTTAGPathogenic12/20/2016 
155OPA1Ex28NM_015560.2:c.2862A>Cp.Glu954Asp | p.E954DLRG_337t1:c.2862A>C, LRG_337t2:c.3027A>C, NM_015560.1:c.2862A>C, NM_015560.2:c.2862A>C, NM_130831.1:c.2754A>C, NM_130831.2:c.2754A>C, NM_130832.1:c.2808A>C, NM_130832.2:c.2808A>C, NM_130833.1:c.2865A>C, NM_130833.2:c.2865A>C, NM_130834.1:c.2916A>C, NM_130834.2:c.2916A>C, NM_130835.1:c.2919A>C, NM_130835.2:c.2919A>C, NM_130836.1:c.2973A>C, NM_130836.2:c.2973A>C, NM_130837.1:c.3027A>C, NM_130837.2:c.3027A>CVOUS10/27/2016
156OPA1Ex28NM_015560.2:c.2883A>Cp.*961Tyr | p.X961YLRG_337t1:c.2883A>C, LRG_337t2:c.3048A>C, NM_015560.1:c.2883A>C, NM_015560.2:c.2883A>C, NM_130831.1:c.2775A>C, NM_130831.2:c.2775A>C, NM_130832.1:c.2829A>C, NM_130832.2:c.2829A>C, NM_130833.1:c.2886A>C, NM_130833.2:c.2886A>C, NM_130834.1:c.2937A>C, NM_130834.2:c.2937A>C, NM_130835.1:c.2940A>C, NM_130835.2:c.2940A>C, NM_130836.1:c.2994A>C, NM_130836.2:c.2994A>C, NM_130837.1:c.3048A>C, NM_130837.2:c.3048A>CPathogenic08/12/2019 
157OPA1Ex5NM_130837.2:c.604_605delTTp.Leu202Valfs*10 | p.L202VfsX10LRG_337t1:c.556+546_556+547delTT, LRG_337t2:c.604_605delTT, NM_015560.1:c.556+546_556+547delTT, NM_015560.2:c.556+546_556+547delTT, NM_130831.1:c.449-1038_449-1037delTT, NM_130831.2:c.449-1038_449-1037delTT, NM_130832.1:c.496_497delTT, NM_130832.2:c.496_497delTT, NM_130833.1:c.449-1038_449-1037delTT, NM_130833.2:c.449-1038_449-1037delTT, NM_130834.1:c.604_605delTT, NM_130834.2:c.604_605delTT, NM_130835.1:c.496_497delTT, NM_130835.2:c.496_497delTT, NM_130836.1:c.556+546_556+547delTT, NM_130836.2:c.556+546_556+547delTT, NM_130837.1:c.604_605delTT, NM_130837.2:c.604_605delTT, NR_046634.1:n.*767_*768delAA, XM_005247500.1:c.604_605delTT, XM_005247501.1:c.556+546_556+547delTT, XM_005247502.1:c.604_605delTT, XM_005247503.1:c.449-1038_449-1037delTT, XM_005247504.1:c.556+546_556+547delTTVOUS08/30/2018
158OPA1Ex5NM_130837.2:c.610+33A>TNM_015560.1:c.556+585A>T, NM_015560.2:c.556+585A>T, NM_130831.1:c.449-999A>T, NM_130831.2:c.449-999A>T, NM_130832.1:c.502+33A>T, NM_130832.2:c.502+33A>T, NM_130833.1:c.449-999A>T, NM_130833.2:c.449-999A>T, NM_130834.1:c.610+33A>T, NM_130834.2:c.610+33A>T, NM_130835.1:c.502+33A>T, NM_130835.2:c.502+33A>T, NM_130836.1:c.556+585A>T, NM_130836.2:c.556+585A>T, NM_130837.1:c.610+33A>T, NM_130837.2:c.610+33A>T, NR_046634.1:n.*729T>A, XM_005247500.1:c.610+33A>T, XM_005247501.1:c.556+585A>T, XM_005247502.1:c.610+33A>T, XM_005247503.1:c.449-999A>T, XM_005247504.1:c.556+585A>TBenign** 
159OPA1Ex7NM_130837.2:c.679-8C>TLRG_337t1:c.625-5528C>T, LRG_337t2:c.679-8C>T, NM_015560.1:c.625-5528C>T, NM_015560.2:c.625-5528C>T, NM_130831.1:c.517-5528C>T, NM_130831.2:c.517-5528C>T, NM_130832.1:c.571-5528C>T, NM_130832.2:c.571-5528C>T, NM_130833.1:c.517-8C>T, NM_130833.2:c.517-8C>T, NM_130834.1:c.679-5528C>T, NM_130834.2:c.679-5528C>T, NM_130835.1:c.571-8C>T, NM_130835.2:c.571-8C>T, NM_130836.1:c.625-8C>T, NM_130836.2:c.625-8C>T, NM_130837.1:c.679-8C>T, NM_130837.2:c.679-8C>T, NR_046634.1:n.104+1145G>A, XM_005247500.1:c.679-8C>T, XM_005247501.1:c.625-8C>T, XM_005247502.1:c.679-5528C>T, XM_005247503.1:c.517-8C>T, XM_005247504.1:c.625-5528C>TBenign07/31/2012 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.