Unique variants in gene OPA1

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

517 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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.(2440+1_2441-1))_(2872+1_2873-1)dup pathogenic r.? p.? - g.(193376785_193377270)_(193384179_193384958)dup - - - OPA1_000523 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas FOULONNEAU
-/-? 2 - c.? benign r.(?) p.(=) Basic (exons 1-3) g.? - 26+12T>G, 27-5C>T - OPA1_000148, OPA1_000149 2 more items PubMed: Han 2006 - - Germline - - - - - Marc Ferre
+/+? 1 - c.(?_-234)_(32+1_33-1)del pathogenic r.? p.? - g.(193300000_193310933)_(193311199_193332511)del - - - OPA1_000461 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas FOULONNEAU
+/+? 1 _1_6i c.(?_-1)_(678+1_679-1)del pathogenic r.0? p.0? Basic (exons 1-3) g.(192802437_193311166)_(193336726_193343880)del - del ex1-5 - OPA1_000266 1 more item PubMed: Fuhrmann 2009 - - Germline - - - - - Marc Ferre
+/+? 1 _1_29i c.(?_-1)_(2983+1_2984-1)del pathogenic r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) g.(191677608_193311166)_(193385070_193409851)del - del ex1-27 - OPA1_000268 1 more item PubMed: Fuhrmann 2009 - - Germline yes - - - - Marc Ferre
+/+? 1 _1_31_ c.(?_-1)_(*3211_?)del pathogenic r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) 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 _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del pathogenic r.(?) p.? - g.(193000000_193409851)_(193415602_194000000)del - Heterozygous deletion of exons 28 and 29 of OPA1 - OPA1_000456 - PubMed: Lynch 2017 - - Germline - - - - - Thomas FOULONNEAU
+/+? 7 _1_31, _1_31_ c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del, g.193046853_194407385del - OPA1_000431 1 more item PubMed: Biamino 2016 - - Germline yes - - - - Thomas FOULONNEAU
+?/?, +/+? 2 1 c.3G>A likely pathogenic, pathogenic r.(?), r.? p.0?, p.? Basic (exons 1-3) g.193311169G>A g.193593380G>A - - OPA1_000348 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished), 1 more item - - Germline, Germline/De novo (untested) - - BtsCI-, FokI- - - Lampros Mavrogiannis, Marc Ferre
+?/? 1 1 c.3G>T likely pathogenic r.(?) p.0? Basic (exons 1-3) g.193311169G>T g.193593380G>T - - OPA1_000328 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 1 c.6G>A pathogenic r.(?) p.(Trp2*) Basic (exons 1-3) g.193311172G>A g.193593383G>A - - OPA1_000087 1 more item PubMed: Pesch 2001 - - Germline - - - - - Marc Ferre
+?/? 1 1 c.9_14del likely pathogenic r.(?) p.(Leu4_Arg5del) - g.193311175_193311180del - - - OPA1_000437 - PubMed: Hayashi 2017 - - Germline - - - - - Thomas FOULONNEAU
+/+? 1 1 c.22G>T pathogenic r.(?) p.(Ala8Ser) Basic (exons 1-3) g.193311188G>T g.193593399G>T - - OPA1_000117 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
+/+? 1 - c.30del pathogenic r.(?) p.(Cys11Valfs*7) - g.193311196del - 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 1i c.32+24C>G VUS r.(?) p.(=) - g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - - - Andreas Laner
?/? 1 1i c.32+87del VUS r.(?) p.? Non-specific domain g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
-/-? 1 1i c.32+97G>A benign r.(?) p.(=) Basic (exons 1-3) g.193311295G>A g.193593506G>A c.1+97G>A - OPA1_000144 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
+/+? 1 - c.33T>A pathogenic r.(?) p.(Cys11*) - g.193332512T>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 pathogenic r.? p.? - g.(193311199_193332511)_(193332831_193333462)dup - - - OPA1_000463 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas FOULONNEAU
+?/+? 1 1i_3i c.(32+1_33-1)_(448+1_449-1)del likely pathogenic r.spl p.? Basic (exons 1-3) g.(193311199_193332511)_(193333560_193334966)del - 33-?_448+?del - OPA1_000349 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+?/+? 1 1i_29i c.(32+1_33-1)_(2983+1_2984-1)dup likely pathogenic r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) 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 2 c.43C>A likely benign, benign r.(?) p.(Gln15Lys) Basic (exons 1-3) g.193332522C>A g.193614733C>A OPA1:c.43C>A (Q15K) - OPA1_000318 VKGL data sharing initiative Nederland; correct HGVS to be checked Mavrogiannis LA, Charlton RS (unpublished), Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - Germline, Germline/De novo (untested), CLASSIFICATION record - - HpyCH4V+, BsrI- - - Lampros Mavrogiannis, Marc Ferre, VKGL-NL_Utrecht
+/+? 1 - c.50T>G pathogenic r.(?) p.(Leu17*) - g.193332529T>G - - - OPA1_000465 - Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BpuEI+, SmlI+ - - Marc Ferre
-?/?, -?/. 2 2 c.70A>G likely benign r.(?) p.(Ile24Val) Basic (exons 1-3) g.193332549A>G g.193614760A>G OPA1:c.70A>G (I24V) - OPA1_000321 VKGL data sharing initiative Nederland; correct HGVS to be checked Mavrogiannis LA, Charlton RS (unpublished) - - Germline, CLASSIFICATION record - - - - - Lampros Mavrogiannis, VKGL-NL_Utrecht
+/+? 1 - c.71_73delinsAG pathogenic r.(?) p.(Ile24Lysfs*25) - g.193332550_193332552delinsAG - - - OPA1_000466 - PubMed: Chen 2014 - - Germline/De novo (untested) - - HpyAV+ - - Thomas FOULONNEAU
+/+? 1 2 c.91C>T pathogenic r.(?) p.(Gln31*) - g.193332570C>T - - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline - - - - - Thomas FOULONNEAU
?/. 1 - c.108_125del VUS r.(?) p.(Arg38_Ser43del) - g.193332587_193332604del - OPA1:c.113_130delGAAGCATTTATCATTCAC (R38_S43del) - OPA1_000397 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 2 c.112C>T pathogenic r.(?) p.(Arg38*) Basic (exons 1-3) g.193332591C>T g.193614802C>T - - OPA1_000236 1 more item PubMed: Nakamura 2006 - - Germline yes - - - - Marc Ferre
+/+?, -/., +?/+?, ?/. 9 2 c.113_130del pathogenic, benign, likely pathogenic, VUS r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del 112_139del18, 113_130del18, OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del) - OPA1_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Thiselton 2002, PubMed: Tingaud-Sequeira 2017, Mavrogiannis LA, Charlton RS (unpublished), 2 more items - rs761926672 Germline, Germline/De novo (untested), CLASSIFICATION record - - Hpy188III- - - Angelique Caignard, Marc Ferre, Johan den Dunnen, Lampros Mavrogiannis, Bjorn Oskarsson, Erik-Jan Kamsteeg, Bastien Le Roux, VKGL-NL_Nijmegen
+/+? 1 - c.143T>G pathogenic r.(?) p.(Leu48*) - g.193332622T>G - - - OPA1_000467 - Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - LpnPI+ - - Marc Ferre
+/+? 1 2 c.154C>T pathogenic r.(?) p.(Arg52*) Basic (exons 1-3) g.193332633C>T g.193614844C>T - - OPA1_000166 1 more item PubMed: Ban 2007 - - Germline - - - - - Yuriko Ban
+/., +/+? 2 2 c.181C>T pathogenic r.(?) p.(Gln61*) Basic (exons 1-3) g.193332660C>T g.193614871C>T OPA1:NM_130837.2:c.181C>T (Gln61*) - OPA1_000158 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Nakamura 2006 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Marc Ferre
+/+? 2 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exons 1-3), Basic (exon 1-3) g.193332669del g.193614880del - - OPA1_000165 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre, Bastien Le Roux
+?/+?, -/-? 2 - c.190_194del likely pathogenic, benign r.(?) p.(Ser64Aspfs*7) - g.193332669_193332673del - - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- - - Thomas FOULONNEAU
+/+ 2 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) - g.193332703del - - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre, Bastien Le Roux
+/+? 2 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) Basic (exons 1-3) g.193332718A>G g.193614929A>G - - OPA1_000139 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre, Bastien Le Roux
+/+? 1 - c.245A>G pathogenic r.(?) p.(Tyr82Cys) - g.193332724A>G - - - OPA1_000468 - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ - - Marc Ferre
+/+? 1 2 c.267G>A pathogenic r.(?) p.(Trp89*) Basic (exons 1-3) g.193332746G>A g.193614957G>A - - OPA1_000327 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 2 c.284C>T pathogenic r.(?) p.(Thr95Met) Basic (exons 1-3) g.193332763C>T g.193614974C>T - - OPA1_000167 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+/+? 2 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exons 1-3), Basic (exon 1-3) g.193332784A>G g.193614995A>G - - OPA1_000218 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre, Bastien Le Roux
-?/-?, -/-? 2 2 c.321G>A likely benign, benign r.(?) p.(=) Basic (exons 1-3) g.193332800G>A g.193615011G>A - - OPA1_000041 1 more item PubMed: Pesch 2001 - - Germline - - - - - Lampros Mavrogiannis, Marc Ferre
+/+? 2 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3) g.193332823C>T g.193615034C>T - - OPA1_000253 1 more item PubMed: Yu-Wai-Man 2010, Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - Germline, Germline/De novo (untested) - - HpyCH4III+ - - Marc Ferre
+?/+? 1 3 c.356_357del likely pathogenic r.(?) p.(Phe119*) Basic (exons 1-3) g.193333467_193333468del g.193615678_193615679del - - OPA1_000290 - PubMed: Almind 2012 - - Germline - - - - - Angelique Caignard
+/? 1 3 c.357del pathogenic r.(?) p.(Phe119Leufs*7) Basic (exons 1-3) g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 3 c.361C>T pathogenic r.(?) p.(Gln121*) Basic (exons 1-3) g.193333472C>T g.193615683C>T - - OPA1_000168 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
?/. 2 3 c.380C>T VUS r.(?) p.(Pro127Leu) - g.193333491C>T g.193615702C>T OPA1:c.380C>T (P127L) - OPA1_000389 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Rotterdam
-?/? 1 3 c.381G>A likely benign r.(?) p.(=) Basic (exons 1-3) g.193333492G>A g.193615703G>A - - OPA1_000336 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 - c.419del pathogenic r.(?) p.(Val140Glyfs*24) - g.193333530del - c.419delT - OPA1_000469 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BslI+ - - Marc Ferre
-?/., -/., -/-? 3 3 c.420G>T likely benign, benign r.(=), r.(?) p.(=) Basic (exons 1-3) g.193333531G>T g.193615742G>T OPA1:c.420G>T (=) - OPA1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Marc Ferre
+/+? 1 - c.422G>A pathogenic r.(?) p.(Trp141*) - g.193333533G>A - - - OPA1_000470 - Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre
+/+? 1 3i c.448+1G>C pathogenic r.spl p.? Basic (exons 1-3) g.193333560G>C g.193615771G>C - - OPA1_000076 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
+/. 1 - c.448+1G>T pathogenic r.spl? p.? - g.193333560G>T - OPA1:NM_130837.2:c.448+1G>T - OPA1_000418 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 1 3i c.448+2T>G pathogenic r.spl p.? Basic (exons 1-3) g.193333561T>G g.193615772T>G - - OPA1_000169 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+/? 1 - c.449-34dup pathogenic r.(?) p.? - g.193334933dup - - - OPA1_000471 - PubMed: Li 2017 - - Germline/De novo (untested) - - AflII+, MseI+, SmlI+, DdeI- - - Thomas FOULONNEAU
+?/? 1 3i_10i c.(448+1_449-1)_(1035+1_1036-1)dup likely pathogenic r.? p.? GTPase (exons 10-17) 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
-/., -/-? 2 4 c.473G>A benign r.(?) p.(Ser158Asn) Non-specific domain g.193334991G>A g.193617202G>A OPA1:NM_130837.2:c.473G>A (Ser158Asn), 473A>G (Asn158Ser) - OPA1_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Marc Ferre
-/-? 1 4 c.478G>C benign r.(?) p.(Glu160Gln) Non-specific domain g.193334996G>C g.193617207G>C - - OPA1_000044 1 more item PubMed: Toomes 2001 - - Germline - - - - - Marc Ferre
-/-? 1 4 c.500C>T benign r.(?) p.(Pro167Leu) Non-specific domain g.193335018C>T g.193617229C>T - - OPA1_000045 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
-?/-? 1 4 c.534A>G likely benign r.(?) p.(=) Non-specific domain g.193335052A>G g.193617263A>G - - OPA1_000341 - - - - Germline - - - - - Lampros Mavrogiannis
-/-? 1 4i c.556+178G>T benign r.(?) p.(=) Non-specific domain g.193335252G>T g.193617463G>T - - OPA1_000047 1 more item PubMed: Delettre 2001 - - Germline - - - - - Marc Ferre
?/. 1 - c.592G>A VUS r.(?) p.(Asp198Asn) - g.193335608G>A - OPA1:c.592G>A (D198N) - OPA1_000398 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 4 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
+/+? 4 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
-/., -/-? 2 4i c.611-19T>C benign r.(=), r.(?) p.(=) Non-specific domain g.193336639T>C g.193618850T>C OPA1:NM_130837.2:c.611-19T>C (?) - OPA1_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Toomes 2001 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Marc Ferre
-/-?, -/. 2 6 c.629C>T benign r.(?) p.(Ala210Val) Non-specific domain g.193336676C>T g.193618887C>T OPA1:c.629C>T (A210V) - OPA1_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Pesch 2001 - - Germline, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Utrecht
+/+? 1 6 c.665_666insACTGGAGAATGTAAAGGGCTTT pathogenic r.(?) p.(His223Leufs*10) - g.193336712_193336713insACTGGAGAATGTAAAGGGCTTT - - - OPA1_000439 - PubMed: Bolognini 2017 - - Germline - - - - - Thomas FOULONNEAU
?/? 1 6i c.678+1G>T VUS r.spl p.? Non-specific domain g.193336726G>T g.193618937G>T - - OPA1_000358 - PubMed: Liskova 2016 - - Germline - - - - - Lubica Dudakova
+?/? 1 6i c.678+2T>G likely pathogenic r.spl p.? Non-specific domain g.193336727T>G g.193618938T>G - - OPA1_000330 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
-/. 1 - c.679-8C>T benign r.(=) p.(=) - g.193343873C>T - OPA1:c.679-8C>T - OPA1_000399 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 7 c.740G>A pathogenic r.(?) p.(Arg247His) Non-specific domain g.193343942G>A g.193626153G>A - - OPA1_000235 1 more item PubMed: Cornille 2008 - - Germline no - - - - Marc Ferre
+/?, -/-? 3 7 c.768C>G pathogenic, benign r.(?) p.(Ser256Arg) Non-specific domain g.193343970C>G g.193626181C>G - - OPA1_000254 Variation in an alternative exon, 2 more items PubMed: Yu-Wai-Man 2014, PubMed: Yu-Wai-Man 2010 - - Germline - - - - - Thomas FOULONNEAU, Marc Ferre
+?/?, +/+? 2 8 c.794C>A likely pathogenic, pathogenic r.(?) p.(Ser265*) Non-specific domain g.193349405C>A g.193631616C>A - - OPA1_000088 1 more item PubMed: Pesch 2001 - - Germline - - - - - Angelique Caignard, Marc Ferre
+/+? 2 8 c.796_799del pathogenic r.(?) p.(Asp266Lysfs*16) Non-specific domain g.193349407_193349410del g.193631618_193631621del c.631-634del - OPA1_000248 1 more item PubMed: Cohn 2007, Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline, Germline/De novo (untested) - - Hpy188I- - - Marc Ferre
+/+? 1 8 c.799A>T pathogenic r.(?) p.(Lys267*) Non-specific domain g.193349410A>T g.193631621A>T - - OPA1_000337 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/., +/+? 3 8 c.800_801del ACMG: 5, pathogenic r.(?) p.(Lys267Argfs*4) Non-specific domain g.193349411_193349412del g.193631622_193631623del 800_801delAA - OPA1_000026 2 more items PubMed: de Castro-Miró 2016, PubMed: Yu-Wai-Man 2010, PubMed: Toomes 2001 - - Germline yes - - - - Marta de Castro-Miró, Marc Ferre
+/+? 1 8 c.800_803del pathogenic r.(?) p.(Lys267Argfs*15) Non-specific domain g.193349411_193349414del g.193631622_193631625del - - OPA1_000010 1 more item PubMed: Baris 2003 - - Germline - - - - - Marc Ferre
+/+? 1 8 c.804_805del pathogenic r.(?) p.(Lys269Asnfs*2) Non-specific domain g.193349415_193349416del g.193631626_193631627del - - OPA1_000263 1 more item PubMed: Yu-Wai-Man 2010 - - Germline yes - - - - Marc Ferre
+/+? 1 8 c.814C>T pathogenic r.(?) p.(Gln272*) Non-specific domain g.193349425C>T g.193631636C>T - - OPA1_000320 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 8 c.830T>C pathogenic r.(?) p.(Leu277Pro) Non-specific domain g.193349441T>C g.193631652T>C - - OPA1_000170 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
-/-? 1 8i c.844-13T>G benign r.(?) p.(=) Non-specific domain g.193353194T>G g.193635405T>G NM_015560.1 c.6-13T>G - OPA1_000145 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
?/? 1 9 c.852T>A VUS r.(?) p.(Tyr284*) - g.193353215T>A g.193635426T>A - - OPA1_000307 - PubMed: Galvez-Ruiz 2013 - - Germline - - - - - Angelique Caignard
+/+? 1 9 c.868C>T pathogenic r.(?) p.(Arg290*) Non-specific domain g.193353231C>T g.193635442C>T - - OPA1_000121 1 more item PubMed: Puomila 2005 - - Germline yes - - - - Marc Ferre
?/? 2 9 c.869G>A VUS r.(?) p.(Arg290Gln) - g.193353232G>A - - - OPA1_000400 VKGL data sharing initiative Nederland Le Roux 2019, submitted - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Rotterdam, Bastien Le Roux
+/+? 1 9 c.889G>T pathogenic r.(?) p.(Glu297*) Non-specific domain g.193353252G>T g.193635463G>T - - OPA1_000122 1 more item PubMed: Puomila 2005 - - Germline yes - - - - Marc Ferre
+/+? 1 8 c.893T>A pathogenic r.(?) p.(Leu298*) Non-specific domain g.193353256T>A g.193635467T>A - - OPA1_000159 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+/+? 1 9 c.898A>T pathogenic r.(?) p.(Lys300*) Non-specific domain g.193353261A>T g.193635472A>T - - OPA1_000075 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
+/+, +/+? 3 9 c.902T>G pathogenic r.(?) p.(Leu301*) - g.193353265T>G - - - OPA1_000426 - Le Roux 2019, submitted, Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre, Bastien Le Roux
+/. 1 - c.910C>T pathogenic r.(?) p.(Gln304*) - g.193353273C>T - OPA1:NM_130837.2:c.910C>T (Gln304*) - OPA1_000419 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 1 - c.921_922del pathogenic r.(?) p.(Asp307Glufs*6) - g.193353284_193353285del - - - OPA1_000472 - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - - - Marc Ferre
+/? 1 9 c.943C>T pathogenic r.(?) p.(Leu315Phe) Non-specific domain g.193353306C>T g.193635517C>T - - OPA1_000359 - PubMed: Liskova 2016 - - Germline - - - - - Lubica Dudakova
-/-? 1 9i c.948+49_948+51del benign r.(?) p.(=) Non-specific domain g.193353360_193353362del g.193635571_193635573del IVS7del(+49-51) - OPA1_000049 1 more item PubMed: Thiselton 2002 - - Germline - - - - - Marc Ferre
+/+? 1 9i c.949-5_949-4insMK031169.1 pathogenic r.spl? p.? - g.193354979_193354980insMK031169.1 g.193637190_193637191insMK031169.1 1 more item - OPA1_000457 1 more item PubMed: Gallus 2010, PubMed: Pretegiani 2017 - - Germline/De novo (untested) - - - - - Thomas FOULONNEAU
?/? 1 9i c.949-3C>A VUS r.spl? p.? Non-specific domain g.193354981C>A g.193637192C>A - - OPA1_000325 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 - c.949-2A>C pathogenic r.spl p.? - g.193354982A>C - - - OPA1_000473 - PubMed: Chen 2014 - - Germline/De novo (untested) - - FspEI+ - - Thomas FOULONNEAU
+/+?, +/? 3 10i c.949-2A>G pathogenic r.spl p.?, p.(=) GTPase (exons 10-17) g.193354982A>G g.193637193A>G - - OPA1_000361 - PubMed: Chen 2014, PubMed: Liskova 2016, 1 more item - - Germline/De novo (untested), Germline - - FspEI+ - - Thomas FOULONNEAU, Lubica Dudakova, Marc Ferre
?/? 1 9i c.949-2A>T VUS r.spl p.? - g.193354982A>T g.193637193A>T - - OPA1_000308 - PubMed: Galvez-Ruiz 2013 - - Germline - - - - - Angelique Caignard
+/+? 1 9i c.949-1G>A pathogenic r.spl p.? Non-specific domain g.193354983G>A g.193637194G>A - - OPA1_000173 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+/? 1 10i c.949-1G>C pathogenic r.spl p.? GTPase (exons 10-17) g.193354983G>C g.193637194G>C - - OPA1_000360 - PubMed: Liskova 2016 - - Germline - - - - - Lubica Dudakova
+/+? 1 9i c.949-1G>T pathogenic r.spl? p.? - g.193354983G>T - - - OPA1_000452 - PubMed: Kamakari 2014 - - Germline - - - - - Thomas FOULONNEAU
+/+? 5 10 c.959_962del pathogenic r.(?) p.(Ile320Thrfs*42) GTPase (exon 10-17), GTPase (exons 10-17) g.193354994_193354997del g.193637205_193637208del - - OPA1_000027 1 more item PubMed: Toomes 2001 - - Germline - - - - - Bastien Le Roux, Marc Ferre
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