Unique variants in the OPA1 gene

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.

573 entries on 6 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.(2440+1_2441-1))_(2872+1_2873-1)dup r.? p.? - - pathogenic g.(193376785_193377270)_(193384179_193384958)dup - - - OPA1_000523 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - - - Thomas Foulonneau
+?/., -/-? 4 - c.? r.(?), r.? p.(=), p.? Basic (exons 1-3) - benign, likely pathogenic g.? - 26+12T>G, 27-5C>T, 980G>A Arg327Gln CGG>CAG, del ex8-31 - OPA1_000148, OPA1_000149 2 more items PubMed: Han 2006, PubMed: Stone 2017 - - Germline - - - - - Marc Ferre
+/+? 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 _1_6i c.(?_-1)_(678+1_679-1)del r.0? p.0? Basic (exons 1-3) - pathogenic 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 r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - pathogenic 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 r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - 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 _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del r.(?) p.? - - pathogenic 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 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.2778+521_*3211{0} r.? p.? - - likely pathogenic g.193383306_193420756del - del ex25-31 Chr3:193383306-193420756del - OPA1_000600 - PubMed: Stone 2017 - - Germline - - - - - -
+/. 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 1 c.3G>A r.(?) p.(Met1?), p.0? Basic (exons 1-3) - 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 1 c.3G>T - p.0? Basic (exons 1-3) - 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 1 c.6G>A r.(?) p.(Trp2*) Basic (exons 1-3) - 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 1 c.22G>T r.(?) p.(Ala8Ser) Basic (exons 1-3) - 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 1i c.32+24C>G r.(?) p.(=) - - VUS g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - - - Andreas Laner
?/? 1 1i c.32+87del r.(?) p.(=) Non-specific domain - VUS g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
-/-? 1 1i c.32+97G>A r.(?) p.(=) Basic (exons 1-3) - 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 1i_3i c.(32+1_33-1)_(448+1_449-1)del r.spl p.? Basic (exons 1-3) - likely pathogenic 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 r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - 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 2 c.43C>A r.(?) p.(Gln15Lys) Basic (exons 1-3) - 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.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
-?/., -?/? 4 2 c.70A>G r.(?) p.(Ile24Val) Basic (exons 1-3) - 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.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
+/+? 1 2 c.112C>T r.(?) p.(Arg38*) Basic (exons 1-3) - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 1 more item PubMed: Nakamura 2006 - - Germline yes - - - - Marc Ferre
+/+?, +?/+?, -/., -?/., ?/., ?/? 11 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) - 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 2 c.154C>T r.(?) p.(Arg52*) Basic (exons 1-3) - 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) Basic (exons 1-3) - 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 2 c.190del r.(?) p.(Ser64Leufs*2) Basic (exon 1-3), Basic (exons 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 2 c.239A>G r.(?) p.(Tyr80Cys) Basic (exons 1-3) - 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 2 c.267G>A r.(?) p.(Trp89*) Basic (exons 1-3) - pathogenic g.193332746G>A g.193614957G>A - - OPA1_000327 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+?, ?/. 2 2 c.284C>T r.(?) p.(Thr95Met) Basic (exons 1-3) - 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
+/+? 2 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3), Basic (exons 1-3) - pathogenic 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 r.(?) p.(=) Basic (exons 1-3) - benign, likely benign g.193332800G>A g.193615011G>A - - OPA1_000041 1 more item PubMed: Pesch 2001 - - Germline - - - - - Marc Ferre, Lampros Mavrogiannis
+/+?, ?/. 3 2 c.344C>T r.(?) p.(Ala115Val) Basic (exons 1-3) - pathogenic, VUS g.193332823C>T g.193615034C>T - - OPA1_000253 1 more item Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted, PubMed: Comander 2017, 1 more item - - Germline, Germline/De novo (untested) - - HpyCH4III+ - - Marc Ferre
+?/+? 1 3 c.356_357del r.(?) p.(Phe119*) Basic (exons 1-3) - likely pathogenic g.193333467_193333468del g.193615678_193615679del - - OPA1_000290 - PubMed: Almind 2012 - - Germline - - - - - Angelique Caignard
+/? 1 3 c.357del r.(?) p.(Phe119Leufs*7) Basic (exons 1-3) - pathogenic g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 3 c.361C>T r.(?) p.(Gln121*) Basic (exons 1-3) - pathogenic g.193333472C>T g.193615683C>T - - OPA1_000168 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
+?/+? 1 3 c.374T>C r.(?) p.(Met125Thr) - - VUS g.193333485T>C - - - OPA1_000592 - - - - Germline/De novo (untested) - - - - - Marc Ferre
?/. 2 3 c.380C>T r.(?) p.(Pro127Leu) - - 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
-?/? 1 3 c.381G>A r.(?) p.(=) Basic (exons 1-3) - likely benign g.193333492G>A g.193615703G>A - - OPA1_000336 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 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 3 c.420G>T r.(?) p.(=), p.(Val140=) Basic (exons 1-3) - 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 3i c.448+1G>C r.spl p.? Basic (exons 1-3) - 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 3i c.448+2T>G r.spl p.? Basic (exons 1-3) - 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 3i_10i c.(448+1_449-1)_(1035+1_1036-1)dup r.? p.? GTPase (exons 10-17) - 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
-/-?, -/. 2 4 c.473G>A r.(?) p.(Ser158Asn) Non-specific domain - 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 4 c.478G>C r.(?) p.(Glu160Gln) Non-specific domain - benign g.193334996G>C g.193617207G>C - - OPA1_000044 1 more item PubMed: Toomes 2001 - - Germline - - - - - Marc Ferre
-/-? 1 4 c.500C>T r.(?) p.(Pro167Leu) Non-specific domain - 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 4 c.534A>G r.(?) p.(=) Non-specific domain - likely benign g.193335052A>G g.193617263A>G - - OPA1_000341 - - - - Germline - - - - - Lampros Mavrogiannis
-/-? 1 4i c.556+178G>T r.(?) p.(=) Non-specific domain - benign g.193335252G>T g.193617463G>T - - OPA1_000047 1 more item PubMed: Delettre 2001 - - Germline - - - - - Marc Ferre
?/. 2 - c.592G>A r.(?) p.(Asp198Asn) - - 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 5i c.610+360G>A r.(?) p.(=) Non-specific domain - pathogenic g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
+/+? 4 5i c.610+364G>A r.(?) p.(=) Non-specific domain - pathogenic g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - - - Tobias Bonifert
-/-?, -/. 2 4i c.611-19T>C r.(=) p.(=) Non-specific domain - 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 6 c.619dup r.(?) p.(Glu207Glyfs*6) - - pathogenic (dominant) g.193336666dup g.193618877dup - - OPA1_000585 - - - - De novo yes - - - - Marc Ferre
-/-?, -/., -?/. 5 6 c.629C>T r.(?) p.(Ala210Val) Non-specific domain - 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 6 c.665_666insACTGGAGAATGTAAAGGGCTTT r.(?) p.(His223Leufs*10) - - pathogenic g.193336712_193336713insACTGGAGAATGTAAAGGGCTTT g.193618923_193618924insACTGGAGAATGTAAAGGGCTTT - - OPA1_000439 - PubMed: Bolognini 2017 - - Germline - - - - - Thomas Foulonneau
?/? 1 6i c.678+1G>T - p.? Non-specific domain - VUS g.193336726G>T g.193618937G>T - - OPA1_000358 - PubMed: Liskova 2016 - - Germline - - - - - Lubica Dudakova
+?/? 1 6i c.678+2T>G - p.? Non-specific domain - likely pathogenic g.193336727T>G g.193618938T>G - - OPA1_000330 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
-/. 2 - c.679-8C>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 7 c.740G>A - p.(Arg247His) Non-specific domain - pathogenic g.193343942G>A g.193626153G>A - - OPA1_000235 1 more item PubMed: Cornille 2008 - - Germline no - - - - Marc Ferre
+/?, -/-? 3 7 c.768C>G r.(?) p.(Ser256Arg) Non-specific domain - benign, pathogenic g.193343970C>G g.193626181C>G - - OPA1_000254 Variation in an alternative exon, 2 more items PubMed: Yu-Wai-Man 2010, PubMed: Yu-Wai-Man 2014 - - Germline - - - - - Marc Ferre, Thomas Foulonneau
+?/. 1 - c.785G>C r.(?) p.(Arg262Pro) - - likely pathogenic (dominant) g.193343987G>C g.193626198G>C - - OPA1_000597 - PubMed: Zhou 2018 - - Germline - - - - - -
-/. 1 - c.790-12T>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
+/+, +/+?, +?/? 3 8 c.794C>A r.(?) p.(Ser265*) Non-specific domain - likely pathogenic, pathogenic, pathogenic (dominant) g.193349405C>A g.193631616C>A - - OPA1_000088 1 more item PubMed: Pesch 2001 - - Germline, Germline/De novo (untested) ? - - - - Marc Ferre, Angelique Caignard
+/+? 2 8 c.796_799del r.(?) p.(Asp266Lysfs*16) Non-specific domain - pathogenic g.193349407_193349410del g.193631618_193631621del c.631-634del - OPA1_000248 1 more item Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted, PubMed: Cohn 2007 - - Germline, Germline/De novo (untested) - - Hpy188I- - - Marc Ferre
+/+? 1 8 c.799A>T r.(?) p.(Lys267*) Non-specific domain - pathogenic g.193349410A>T g.193631621A>T - - OPA1_000337 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+?, +/. 3 8 c.800_801del r.(?) p.(Lys267Argfs*4) Non-specific domain ACMG pathogenic g.193349411_193349412del g.193631622_193631623del 800_801delAA - OPA1_000026 2 more items PubMed: de Castro-Miró 2016, PubMed: Toomes 2001, PubMed: Yu-Wai-Man 2010 - - Germline yes - - - - Marc Ferre, Marta de Castro-Miró
+/+? 1 8 c.800_803del r.(?) p.(Lys267Argfs*15) Non-specific domain - pathogenic g.193349411_193349414del g.193631622_193631625del - - OPA1_000010 1 more item PubMed: Baris 2003 - - Germline - - - - - Marc Ferre
+/+? 1 8 c.802del r.(?) p.(Glu268Argfs*15) - - likely pathogenic (dominant) g.193349413del g.193631624del - - OPA1_000567 Variant inherited from the asymptomatic father - - - De novo no - - - - Marc Ferre
+/+?, +/. 2 8 c.804_805del r.(?) p.(Lys269Asnfs*2), p.(Lys269AsnfsTer2) Non-specific domain - pathogenic g.193349415_193349416del g.193631626_193631627del OPA1(NM_130837.2):c.804_805delGA (p.K269Nfs*2) - OPA1_000263 VKGL data sharing initiative Nederland, 1 more item PubMed: Yu-Wai-Man 2010 - - CLASSIFICATION record, Germline yes - - - - Marc Ferre, VKGL-NL_AMC
+/+? 1 8 c.814C>T r.(?) p.(Gln272*) Non-specific domain - pathogenic g.193349425C>T g.193631636C>T - - OPA1_000320 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
+/+? 1 8 c.830T>C r.(?) p.(Leu277Pro) Non-specific domain - pathogenic g.193349441T>C g.193631652T>C - - OPA1_000170 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
-/-? 1 8i c.844-13T>G r.(?) p.(=) Non-specific domain - benign g.193353194T>G g.193635405T>G NM_015560.1 c.6-13T>G - OPA1_000145 1 more item PubMed: Han 2006 - - Germline - - - - - Marc Ferre
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