Unique variants in the OPA1 gene

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
 
Information The variants shown are described using the transcript reference sequence.

633 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 - c.(1847+1_1848-1)_*321{0} r.(?) p.(0?) - - likely pathogenic g.(193366661_193372650)_(193415600)?del - - - OPA1_000617 - - - - Germline - - - - - Nicole Weisschuh
+/+? 1 - c.(2166+1_2167-1)_(2275+1_2276_1)del r.? p.? - - pathogenic g.(193375022_193376675)_(193376785_193377270)del - - - OPA1_000521 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas Foulonneau
?/. 1 - c.-277C>T r.(?) p.(=) - - VUS g.193310890C>T g.193593101C>T - - OPA1_000394 - - - rs181230813 Germline - - - - - Andreas Laner
+/+? 1 - c.(?_-234)_(32+1_33-1)del r.? p.? - - pathogenic g.(193300000_193310933)_(193311199_193332511)del - - - OPA1_000461 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas Foulonneau
?/. 1 - c.-8C>T r.(?) p.(=) - - VUS g.193311159C>T g.193593370C>T - - OPA1_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3G>A r.(?) p.(=) - - VUS g.193311164G>A g.193593375G>A OPA1(NM_130837.2):c.-3G>A - OPA1_000568 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 - c.(?_-1)_(624+1_625-1)del r.0? p.0? - - pathogenic g.(192802437_193311166)_(193336726_193343880)del - del ex1-5 - OPA1_000266 1 more item PubMed: Fuhrmann 2009 - - Germline - - - - - Marc Ferre
./. 1 - c.(?_-1)_(2818+1_2819-1)del r.0? p.0? - - pathogenic g.(191677608_193311166)_(193385070_193409851)del - del ex1-27 - OPA1_000268 1 more item PubMed: Fuhrmann 2009 - - Germline yes - - - - Marc Ferre
./. 1 - c.(?_-1)_(*3211_?)del r.0? p.0? - - pathogenic g.(191677608_193311166)_(193732134_195310989)del - del ex1-29, c.1-?_3048+?del - OPA1_000270 1 more item PubMed: Fuhrmann 2009 - - Germline - - - - - Marc Ferre
./. 1 - c.(1847+1_1848-1)_(2355 +1_2356-1)dup r.? p.? - - likely pathogenic g.(193366661_193372650)_(193377351_193380610)dup - 2013-?_2520+?dup - OPA1_000355 - Simmonds JH, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 7 _1_29_ c.0 r.0 p.0 - - pathogenic g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del, g.193046853_194407385del - OPA1_000431 1 more item PubMed: Biamino 2016 - - Germline yes - - - - Thomas Foulonneau
+/. 1 - c.1A>T r.(?) p.(Met1?) - - pathogenic g.193311167A>T g.193593378A>T - - OPA1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, ./. 2 - c.3G>A r.(?) p.(Met1?) - - likely pathogenic, pathogenic g.193311169G>A g.193593380G>A - - OPA1_000348 Mutation in start codon of gene OPA1 Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted, 1 more item - - Germline, Germline/De novo (untested) - - BtsCI-, FokI- - - Marc Ferre, Lampros Mavrogiannis
./. 1 - c.3G>T r.(?) p.(Met1?) - - likely pathogenic g.193311169G>T g.193593380G>T - - OPA1_000328 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.6G>A r.(?) p.(Trp2*) - - pathogenic g.193311172G>A g.193593383G>A - - OPA1_000087 1 more item PubMed: Pesch 2001 - - Germline - - - - - Marc Ferre
+?/+? 1 1 c.7C>T r.(?) p.(Arg3*) - - likely pathogenic (dominant) g.193311173C>T g.193593384C>T - - OPA1_000581 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
+?/? 1 1 c.9_14del r.(?) p.(Leu4_Arg5del) - - likely pathogenic g.193311175_193311180del g.193593386_193593391del - - OPA1_000437 - PubMed: Hayashi 2017 - - Germline - - - - - Thomas Foulonneau
./. 1 - c.22G>T r.(?) p.(Ala8Ser) - - pathogenic g.193311188G>T g.193593399G>T - - OPA1_000117 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
+/+? 1 - c.30del r.(?) p.(Cys11Valfs*7) - - pathogenic g.193311196del g.193593407del c.30delC - OPA1_000462 - Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I- - - Marc Ferre
?/. 1 - c.32+24C>G r.(?) p.(=) - - VUS g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - - - Andreas Laner
./. 1 - c.32+87del r.(?) p.(=) - - VUS g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.32+97G>A r.(?) p.(=) - - benign g.193311295G>A g.193593506G>A c.1+97G>A - OPA1_000144 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
-?/. 1 - c.33-4T>G r.spl? p.? - - likely benign g.193332508T>G g.193614719T>G OPA1(NM_130837.2):c.33-4T>G - OPA1_000547 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 - c.33T>A r.(?) p.(Cys11*) - - pathogenic g.193332512T>A g.193614723T>A - - OPA1_000464 - PubMed: Chen 2014 - - Germline/De novo (untested) - - Hpy188I+, BtsIMutI-, TspRI- - - Thomas Foulonneau
+/+? 1 - c.(32+1_33-1)_(351+1_352-1)dup r.? p.? - - pathogenic g.(193311199_193332511)_(193332831_193333462)dup - - - OPA1_000463 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas Foulonneau
./. 1 - c.(32+1_33-1)_(448+1_449-1)del r.spl p.? - - likely pathogenic g.(193311199_193332511)_(193333560_193334966)del - 33-?_448+?del - OPA1_000349 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.(32+1_33-1)_(2818+1_2819-1)dup r.? p.? - - likely pathogenic g.(193311199_193332511)_(193385070_193409851)dup - 33-?_2983+?dup - OPA1_000273 1 more item Mavrogiannis LA, Prescott K, Charlton RS (unpublished) - - Germline yes - - - - Lampros Mavrogiannis
+/-?, -/., ./. 3 - c.43C>A r.(?) p.(Gln15Lys) - - benign, likely benign g.193332522C>A g.193614733C>A OPA1(NM_130837.2):c.43C>A (p.Q15K) - OPA1_000318 VKGL data sharing initiative Nederland Amati-Bonneau P, (unpublished); Le Roux 2019, submitted, Mavrogiannis LA, Charlton RS (unpublished) - - CLASSIFICATION record, Germline, Germline/De novo (untested) - - HpyCH4V+, BsrI- - - Marc Ferre, Lampros Mavrogiannis, VKGL-NL_Utrecht
+?/. 1 - c.50del r.(?) p.(Leu17*) - - likely pathogenic g.193332529del g.193614740del - - OPA1_000616 - - - - Germline - - - - - Nicole Weisschuh
+/+? 1 - c.50T>G r.(?) p.(Leu17*) - - pathogenic g.193332529T>G g.193614740T>G - - OPA1_000465 - Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BpuEI+, SmlI+ - - Marc Ferre
-?/. 1 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic ACMG pathogenic (dominant) g.193332539_193332540del g.193614750_193614751del - - OPA1_000604 - - - - Germline yes - - - - Xingyu Xu
-?/., ./. 4 - c.70A>G r.(?) p.(Ile24Val) - - likely benign g.193332549A>G g.193614760A>G OPA1(NM_130837.2):c.70A>G (p.I24V) - OPA1_000321 VKGL data sharing initiative Nederland Mavrogiannis LA, Charlton RS (unpublished) - - CLASSIFICATION record, Germline - - - - - Lampros Mavrogiannis, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/+? 1 - c.71_73delinsAG r.(?) p.(Ile24Lysfs*25) - - pathogenic g.193332550_193332552delinsAG g.193614761_193614763delinsAG - - OPA1_000466 - PubMed: Chen 2014 - - Germline/De novo (untested) - - HpyAV+ - - Thomas Foulonneau
+?/. 1 - c.73A>T r.(?) p.(Lys25*) - ACMG likely pathogenic g.193332552A>T g.193614763A>T - - OPA1_000586 ACMG grading: PVS1,PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.86del r.(?) p.(Pro29HisfsTer20) - - likely pathogenic g.193332565del g.193614776del - - OPA1_000618 - - - - Germline - - - - - Nicole Weisschuh
-?/. 1 - c.88C>T r.(?) p.(Leu30=) - - likely benign g.193332567C>T g.193614778C>T OPA1(NM_130837.2):c.88C>T (p.L30=) - OPA1_000548 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 1 2 c.91C>T r.(?) p.(Gln31*) - - pathogenic g.193332570C>T g.193614781C>T - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline - - - - - Thomas Foulonneau
+?/., ./. 2 2 c.112C>T r.(?), r.? p.(Arg38*) Basic ACMG pathogenic, pathogenic (dominant) g.193332591C>T g.193614802C>T - - OPA1_000236 1 more item PubMed: Nakamura 2006 - - Germline yes - - - - Marc Ferre, Xingyu Xu
+/+?, -/., -?/., ./., ?/., ?/? 11 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - benign, likely benign, likely pathogenic, pathogenic, VUS g.193332592_193332609del g.193614803_193614820del 112_139del18, 113_130del18, OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del), 1 more item - OPA1_000082, OPA1_000397 VKGL data sharing initiative Nederland, 2 more items Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted, Le Roux 2019, submitted, 3 more items - rs761926672 CLASSIFICATION record, Germline, Germline/De novo (untested) - - Hpy188III- - - Johan den Dunnen, Marc Ferre, Erik-Jan Kamsteeg, Lampros Mavrogiannis, VKGL-NL_Rotterdam, Angelique Caignard, Bjorn Oskarsson, VKGL-NL_Nijmegen, VKGL-NL_AMC, Bastien Le Roux
+/+ 1 2 c.132dup r.(?) p.(His45Serfs*28) - - pathogenic (dominant) g.193332611dup g.193614822dup - - OPA1_000542 - - - - Germline yes - - - - Marc Ferre
+/+? 1 - c.143T>G r.(?) p.(Leu48*) - - pathogenic g.193332622T>G g.193614833T>G - - OPA1_000467 - Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - LpnPI+ - - Marc Ferre
./. 1 - c.154C>T r.(?) p.(Arg52*) - - pathogenic g.193332633C>T g.193614844C>T - - OPA1_000166 1 more item PubMed: Ban 2007 - - Germline - - - - - Yuriko Ban
+/+?, ./. 2 2 c.181C>T r.(?) p.(Gln61*), p.(Gln61Ter) - - pathogenic g.193332660C>T g.193614871C>T - - OPA1_000158 VKGL data sharing initiative Nederland, 1 more item PubMed: Nakamura 2006 - - CLASSIFICATION record, Germline yes - - - - Marc Ferre, VKGL-NL_Nijmegen
-?/. 1 - c.182A>G r.(?) p.(Gln61Arg) - - likely benign g.193332661A>G g.193614872A>G OPA1(NM_130837.2):c.182A>G (p.Q61R) - OPA1_000549 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, ./. 2 - c.190del r.(?) p.(Ser64Leufs*2) Basic (exon 1-3) - pathogenic g.193332669del g.193614880del - - OPA1_000165 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre, Bastien Le Roux
+?/+?, -/-? 2 - c.190_194del r.(?) p.(Ser64Aspfs*7) - - benign, likely pathogenic g.193332669_193332673del g.193614880_193614884del - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- - - Thomas Foulonneau
+/+ 1 2 c.193_194del r.(?) p.(Leu65Aspfs*7) - - pathogenic (dominant) g.193332672_193332673del g.193614883_193614884del - - OPA1_000544 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
+/+ 1 2 c.209T>A r.(?) p.(Leu70*) - - pathogenic g.193332688T>A g.193614899T>A - - OPA1_000566 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
+/+ 2 2 c.224del r.(?) p.(Phe75Serfs*19) - - pathogenic g.193332703del g.193614914del - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre, Bastien Le Roux
-?/. 1 - c.237A>G r.(?) p.(Lys79=) - - likely benign g.193332716A>G g.193614927A>G OPA1(NM_130837.2):c.237A>G (p.K79=) - OPA1_000569 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.238T>C r.(?) p.(Tyr80His) - - likely benign g.193332717T>C - OPA1(NM_130837.2):c.238T>C (p.Y80H) - OPA1_000598 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, -?/., ./. 3 - c.239A>G r.(?) p.(Tyr80Cys) - - likely benign, pathogenic g.193332718A>G g.193614929A>G OPA1(NM_130837.2):c.239A>G (p.Y80C) - OPA1_000139 VKGL data sharing initiative Nederland, 1 more item PubMed: Han 2006 - - CLASSIFICATION record, Germline - - - - - Marc Ferre, VKGL-NL_AMC, Bastien Le Roux
+/+?, ?/. 2 - c.245A>G r.(?) p.(Tyr82Cys) - - pathogenic, VUS g.193332724A>G g.193614935A>G OPA1(NM_130837.2):c.245A>G (p.Y82C) - OPA1_000468 VKGL data sharing initiative Nederland Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - CLASSIFICATION record, Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ - - Marc Ferre, VKGL-NL_Groningen
-?/. 1 - c.254G>A r.(?) p.(Arg85His) - - likely benign g.193332733G>A - OPA1(NM_130837.2):c.254G>A (p.R85H) - OPA1_000589 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2 c.262_263delinsC r.(?) p.(Phe88Leufs*6) - - pathogenic (dominant) g.193332741_193332742delinsC g.193614952_193614953delinsC - - OPA1_000543 - - - - Germline/De novo (untested) ? - - - - Marc Ferre
./. 1 - c.267G>A r.(?) p.(Trp89*) - - pathogenic g.193332746G>A g.193614957G>A - - OPA1_000327 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./., ?/. 2 - c.284C>T r.(?) p.(Thr95Met) - - pathogenic, VUS g.193332763C>T g.193614974C>T OPA1(NM_130837.2):c.284C>T (p.T95M) - OPA1_000167 VKGL data sharing initiative Nederland, 1 more item PubMed: Ferre 2009 - - CLASSIFICATION record, Germline - - - - - Marc Ferre, VKGL-NL_Rotterdam
+?/. 1 - c.295_301dup r.(?) p.(Arg101GlnfsTer22) - - likely pathogenic g.193332774_193332780dup g.193614985_193614991dup - - OPA1_000619 - - - - Germline - - - - - Nicole Weisschuh
+/+?, ./. 2 - c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3) - pathogenic g.193332784A>G g.193614995A>G - - OPA1_000218 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre, Bastien Le Roux
./. 2 - c.321G>A r.(?) p.(=) - - benign, likely benign g.193332800G>A g.193615011G>A - - OPA1_000041 1 more item PubMed: Pesch 2001 - - Germline - - - - - Marc Ferre, Lampros Mavrogiannis
+/+?, ./. 2 - c.344C>T r.(?) p.(Ala115Val) - - pathogenic g.193332823C>T g.193615034C>T - - OPA1_000253 1 more item Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted, PubMed: Yu-Wai-Man 2010 - - Germline, Germline/De novo (untested) - - HpyCH4III+ - - Marc Ferre
?/. 1 3 c.356T>C r.(?) p.(Phe119Ser) Basic ACMG VUS g.193333467T>C g.193615678T>C - - OPA1_000605 - - - - Germline - - - - - Xingyu Xu
./. 1 - c.356_357del r.(?) p.(Phe119*) - - likely pathogenic g.193333467_193333468del g.193615678_193615679del - - OPA1_000290 - PubMed: Almind 2012 - - Germline - - - - - Angelique Caignard
./. 1 - c.357del r.(?) p.(Phe119Leufs*7) - - pathogenic g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.361C>T r.(?) p.(Gln121*) - - pathogenic g.193333472C>T g.193615683C>T - - OPA1_000168 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+?/+? 1 - c.374T>C r.(?) p.(Met125Thr) - - VUS g.193333485T>C - - - OPA1_000592 - - - - Germline/De novo (untested) - - - - - Marc Ferre
?/. 3 3 c.380C>T r.(?), r.? p.(Pro127Leu) Basic ACMG likely pathogenic (dominant), VUS g.193333491C>T g.193615702C>T OPA1(NM_130837.2):c.380C>T (p.P127L) - OPA1_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline ? - - - - Andreas Laner, VKGL-NL_Rotterdam, Xingyu Xu
./. 1 - c.381G>A r.(?) p.(=) - - likely benign g.193333492G>A g.193615703G>A - - OPA1_000336 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/. 1 - c.394del r.(?) p.(Tyr132IlefsTer32) - - pathogenic g.193333505del g.193615716del - - OPA1_000620 - - - - Germline - - - - - Nicole Weisschuh
+/+? 1 - c.419del r.(?) p.(Val140Glyfs*24) - - pathogenic g.193333530del g.193615741del c.419delT - OPA1_000469 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BslI+ - - Marc Ferre
-/., -?/., ./. 4 - c.420G>T r.(?) p.(=), p.(Val140=) - - benign, likely benign g.193333531G>T g.193615742G>T OPA1(NM_130837.2):c.420G>T (p.V140=) - OPA1_000042 VKGL data sharing initiative Nederland, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - Marc Ferre, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+? 1 - c.422G>A r.(?) p.(Trp141*) - - pathogenic g.193333533G>A g.193615744G>A - - OPA1_000470 - Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre
./. 1 - c.448+1G>C r.spl? p.? - - pathogenic g.193333560G>C g.193615771G>C - - OPA1_000076 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
+/. 1 - c.448+1G>T r.spl? p.? - - pathogenic g.193333560G>T g.193615771G>T - - OPA1_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 1 - c.448+2T>G r.spl? p.? - - pathogenic g.193333561T>G g.193615772T>G - - OPA1_000169 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+/? 1 - c.449-34dup r.(?) p.(=) - - pathogenic g.193334933dup g.193617144dup - - OPA1_000471 - PubMed: Li 2017 - - Germline/De novo (untested) - - AflII+, MseI+, SmlI+, DdeI- - - Thomas Foulonneau
./. 1 - c.(448+1_449-1)_(870+1_871-1)dup r.? p.? - - likely pathogenic g.(193333560_193334966)_(193355071_193355740)dup - 449-?_1035+?dup - OPA1_000279 Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA Mavrogiannis LA, Robertson L, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+?/. 1 - c.(448+1_449-1)_(2355+1_2356-1)del r.(?) p.(Glu150Valfs*5) - - likely pathogenic g.(193333560_193334966)_(193377351_193380610)del - - - OPA1_000621 - - - - Germline - - - - - Nicole Weisschuh
-/., ./. 2 - c.473G>A r.(?) p.(Ser158Asn) - - benign g.193334991G>A g.193617202G>A 473A>G (Asn158Ser) - OPA1_000043 VKGL data sharing initiative Nederland, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - Marc Ferre, VKGL-NL_Nijmegen
./. 1 - c.478G>C r.(?) p.(Glu160Gln) - - benign g.193334996G>C g.193617207G>C - - OPA1_000044 1 more item PubMed: Toomes 2001 - - Germline - - - - - Marc Ferre
./. 1 - c.500C>T r.(?) p.(Pro167Leu) - - benign g.193335018C>T g.193617229C>T - - OPA1_000045 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
?/. 1 - c.517G>A r.(?) p.(Val173Ile) - - VUS g.193335035G>A g.193617246G>A OPA1(NM_130837.2):c.517G>A (p.V173I) - OPA1_000550 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. 1 - c.534A>G r.(?) p.(=) - - likely benign g.193335052A>G g.193617263A>G - - OPA1_000341 - - - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.556+178G>T r.(?) p.(=) - - benign g.193335252G>T g.193617463G>T - - OPA1_000047 1 more item PubMed: Delettre 2001 - - Germline - - - - - Marc Ferre
?/. 2 - c.556+534G>A r.(=) p.(=) - - VUS g.193335608G>A g.193617819G>A OPA1(NM_130837.2):c.592G>A (p.D198N) - OPA1_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
./. 4 - c.557-672G>A r.(?) p.(=) - - pathogenic g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
./. 4 - c.557-668G>A r.(?) p.(=) - - pathogenic g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
-/., ./. 2 - c.557-19T>C r.(=) p.(=) - - benign g.193336639T>C g.193618850T>C - - OPA1_000046 VKGL data sharing initiative Nederland, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - Marc Ferre, VKGL-NL_Nijmegen
+?/. 1 - c.557-8_557-3del r.spl p.? - - likely pathogenic g.193336650_193336655del g.193618861_193618866del - - OPA1_000622 - - - - Germline - - - - - Nicole Weisschuh
+/+ 1 6 c.565dup r.(?) p.(Glu189Glyfs*6) - - pathogenic (dominant) g.193336666dup g.193618877dup - - OPA1_000585 - - - - De novo yes - - - - Marc Ferre
?/. 1 - c.572C>T r.(?) p.(Thr191Met) - - VUS g.193336673C>T g.193618884C>T - - OPA1_000623 - - - - Germline - - - - - Nicole Weisschuh
-/., -?/., ./. 5 - c.575C>T r.(?) p.(Ala192Val) - - benign, likely benign g.193336676C>T g.193618887C>T OPA1(NM_130837.2):c.629C>T (p.A210V) - OPA1_000048 83 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Pesch 2001 - rs34307082 CLASSIFICATION record, Germline - 83/2795 individuals - - - Marc Ferre, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq
+?/. 1 - c.586dup r.(?) p.(Thr196AsnfsTer6) - - likely pathogenic g.193336687dup g.193618898dup - - OPA1_000624 - - - - Germline - - - - - Nicole Weisschuh
+/+? 1 6 c.611_612insACTGGAGAATGTAAAGGGCTTT r.(?) p.(His205Leufs*10) - - pathogenic g.193336712_193336713insACTGGAGAATGTAAAGGGCTTT g.193618923_193618924insACTGGAGAATGTAAAGGGCTTT - - OPA1_000439 - PubMed: Bolognini 2017 - - Germline - - - - - Thomas Foulonneau
./. 1 - c.624+1G>T - p.? - - VUS g.193336726G>T g.193618937G>T - - OPA1_000358 - PubMed: Liskova 2016 - - Germline - - - - - Lubica Dudakova
./. 1 - c.624+2T>G - p.? - - likely pathogenic g.193336727T>G g.193618938T>G - - OPA1_000330 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
-/. 2 - c.625-5528C>T r.(=) p.(=) - - benign g.193343873C>T g.193626084C>T OPA1(NM_130837.2):c.679-8C>T - OPA1_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
./. 1 - c.625-5459G>A - p.(=) - - pathogenic g.193343942G>A g.193626153G>A - - OPA1_000235 1 more item PubMed: Cornille 2008 - - Germline no - - - - Marc Ferre
./. 2 - c.625-5431C>G - p.(=) - - benign g.193343970C>G g.193626181C>G - - OPA1_000254 2 more items PubMed: Yu-Wai-Man 2010 - - Germline - - - - - Marc Ferre
-/. 1 - c.625-12T>A r.(=) p.(=) - - benign g.193349389T>A g.193631600T>A OPA1(NM_130837.2):c.790-12T>A - OPA1_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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