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.

563 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.(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 Mavrogiannis LA, Charlton RS (unpublished), 1 more item - - Germline, Germline/De novo (untested) - - BtsCI-, FokI- - - Lampros Mavrogiannis, Marc Ferre
./. 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) - - likely benign, benign g.193332522C>A g.193614733C>A OPA1(NM_130837.2):c.43C>A (p.Q15K) - OPA1_000318 VKGL data sharing initiative Nederland 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 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 - 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) - - Germline, CLASSIFICATION record - - - - - Lampros Mavrogiannis, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht
+/+? 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.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 - c.112C>T r.(?) p.(Arg38*) - - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 1 more item PubMed: Nakamura 2006 - - Germline yes - - - - Marc Ferre
./., -/., ?/., -?/., +/+? 10 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic, benign, likely pathogenic, VUS, likely benign g.193332592_193332609del g.193614803_193614820del 112_139del18, 113_130del18, OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000082, OPA1_000397 VKGL data sharing initiative Nederland, 1 more item PubMed: Thiselton 2002, PubMed: Tingaud-Sequeira 2017, Mavrogiannis LA, Charlton RS (unpublished), 2 more items - rs761926672 Germline, CLASSIFICATION record, Germline/De novo (untested) - - Hpy188III- - - Angelique Caignard, Marc Ferre, Johan den Dunnen, Lampros Mavrogiannis, Bjorn Oskarsson, Erik-Jan Kamsteeg, VKGL-NL_AMC, VKGL-NL_Rotterdam, 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.(Gln61Ter), p.(Gln61*) - - pathogenic g.193332660C>T g.193614871C>T - - OPA1_000158 VKGL data sharing initiative Nederland, 1 more item PubMed: Nakamura 2006 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Nijmegen, Marc Ferre
-?/. 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) - - likely pathogenic, benign 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
./., -?/., +/+? 3 - c.239A>G r.(?) p.(Tyr80Cys) - - pathogenic, likely benign 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 - - Germline, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_AMC, Bastien Le Roux
?/., +/+? 2 - c.245A>G r.(?) p.(Tyr82Cys) - - VUS, pathogenic 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+ - - VKGL-NL_Groningen, Marc Ferre
-?/. 1 - c.254G>A r.(?) p.(Arg85His) - - likely benign g.193332733G>A - OPA1(NM_130837.2):c.254G>A (p.R85H) - chr3_006565 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 - - Germline, CLASSIFICATION record - - - - - Marc Ferre, VKGL-NL_Rotterdam
./., +/+? 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.(=) - - likely benign, benign g.193332800G>A g.193615011G>A - - OPA1_000041 1 more item PubMed: Pesch 2001 - - Germline - - - - - Lampros Mavrogiannis, Marc Ferre
./., +/+? 2 - c.344C>T r.(?) p.(Ala115Val) - - pathogenic 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 - 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
?/. 2 - 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 - - - Germline, CLASSIFICATION record - - - - - Andreas Laner, VKGL-NL_Rotterdam
./. 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.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.(Val140=), p.(=) - - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC, Marc Ferre
+/+? 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
-/., ./. 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 - - - - - VKGL-NL_Nijmegen, Marc Ferre
./. 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 - - - - - VKGL-NL_Nijmegen, Marc Ferre
+/+ 1 6 c.565dup r.(?) p.(Glu189Glyfs*6) - - pathogenic (dominant) g.193336666dup g.193618877dup - - OPA1_000585 - - - - De novo yes - - - - Marc Ferre
./., -/., -?/. 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 VKGL data sharing initiative Nederland, 83 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Pesch 2001, Faruq 2020, submtted - rs34307082 Germline, CLASSIFICATION record - 83/2795 individuals - - - Marc Ferre, VKGL-NL_Nijmegen, Mohammed Faruq, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+? 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_AMC, VKGL-NL_Rotterdam
./. 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
./., +/+ 3 6 c.629C>A r.(?) p.(Ser210*) - - likely pathogenic, pathogenic, pathogenic (dominant) g.193349405C>A g.193631616C>A - - OPA1_000088 1 more item PubMed: Pesch 2001 - - Germline, Germline/De novo (untested) ? - - - - Angelique Caignard, Marc Ferre
./., +/+? 2 - c.631_634del r.(?) p.(Asp211Lysfs*16) - - pathogenic 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 - c.634A>T r.(?) p.(Lys212*) - - pathogenic g.193349410A>T g.193631621A>T - - OPA1_000337 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 2 - c.635_636del r.(?) p.(Lys212Argfs*4) - - pathogenic g.193349411_193349412del g.193631622_193631623del - - OPA1_000026 2 more items PubMed: Yu-Wai-Man 2010, PubMed: Toomes 2001 - - Germline - - - - - Marc Ferre
./. 1 - c.635_638del r.(?) p.(Lys212Argfs*15) - - pathogenic g.193349411_193349414del g.193631622_193631625del - - OPA1_000010 1 more item PubMed: Baris 2003 - - Germline - - - - - Marc Ferre
+/+? 1 6 c.637del r.(?) p.(Glu213Argfs*15) - - likely pathogenic (dominant) g.193349413del g.193631624del - - OPA1_000567 Variant inherited from the asymptomatic father - - - De novo no - - - - Marc Ferre
+/., ./. 2 - c.639_640del r.(?) p.(Lys214AsnfsTer2), p.(Lys214Asnfs*2) - - 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 - - - - VKGL-NL_AMC, Marc Ferre
./. 1 - c.649C>T r.(?) p.(Gln217*) - - pathogenic g.193349425C>T g.193631636C>T - - OPA1_000320 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis
./. 1 - c.665T>C r.(?) p.(Leu222Pro) - - pathogenic g.193349441T>C g.193631652T>C - - OPA1_000170 1 more item PubMed: Ferre 2009 - - Germline - - - - - Marc Ferre
./. 1 - c.679-13T>G r.(?) p.(=) - - 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
./. 1 - c.687T>A r.(?) p.(Tyr229*) - - VUS g.193353215T>A g.193635426T>A - - OPA1_000307 - PubMed: Galvez-Ruiz 2013 - - Germline - - - - - Angelique Caignard
./. 1 - c.703C>T r.(?) p.(Arg235*) - - pathogenic g.193353231C>T g.193635442C>T - - OPA1_000121 1 more item PubMed: Puomila 2005 - - Germline yes - - - - Marc Ferre
?/? 2 7 c.704G>A r.(?) p.(Arg235Gln) - - VUS g.193353232G>A g.193635443G>A OPA1(NM_130837.2):c.869G>A (p.R290Q) - OPA1_000400 VKGL data sharing initiative Nederland Le Roux 2019, submitted - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Rotterdam, Bastien Le Roux
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