Unique variants in the OPA1 gene

Mitodyn.org logo
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.

673 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

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 _1_27i c.-234_(2818+1_2819-1){0} r.0? p.(0?) - - pathogenic (dominant) g.(?_193310933)_(193385070_193409851)del g.(?_193593144)_(193667281_193692062)del del ex1-27 - OPA1_000268 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_5i c.-234_(624+1_625-1){0} r.0? p.(0?) - - pathogenic (dominant) g.(?_193310933)_(193336726_193349400)del g.(?_193593144)_(193618937_193631611)del del ex1-5 - OPA1_000690 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_29 c.-234_*3211{0} r.0 p.0 - - pathogenic (dominant) g.(?_193310933)_(193415600_?)del g.(?_193593144)_(193697811_?)del del entire gene c.(?_-1)_(*3211_?)del - OPA1_000691 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen
?/. 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)_(*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
+?/. 1 19i_29_ c.(1847+1_1848-1)_*3211{0} r.(?) p.(0?) - ACMG likely pathogenic (recessive) g.(193366661_193372650)_(193415600)?del - del ex20_29 - OPA1_000617 ACMG PVS1, PM2 PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Nicole Weisschuh
+/. 1 _1_27i c.-234_(2818+1_2819-1){0} 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
+/+? 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 1 c.[-234_32+343{1};32+628_32+1734del] r.0? p.0? - - pathogenic (dominant) g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del] g.[193592722_193592815del;193592816_193593752inv;193594037_193595143del] g.193310511_193312933delins193310603_193311825[193310603_193310540inv] inversion ex1 OPA1_000688 2.4 kb structural variant comprising a 937bp inversion of exon 1 and two flanking deletions PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 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
+/+?, +?/., ./. 3 - c.3G>A r.(?), r.? p.(Met1?), p.? - - likely pathogenic, pathogenic g.193311169G>A g.193593380G>A OPA1 c.3G>A - OPA1_000348 Mutation in start codon of gene OPA1, no protein change given, heterozygous Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted, PubMed: Zanolli 2020, 1 more item - - Germline, Germline/De novo (untested), Unknown ? - BtsCI-, FokI- - - Marc Ferre, Lampros Mavrogiannis
+/., ./. 2 - c.3G>T r.(?), r.? p.(Met1?), p.? - - likely pathogenic, pathogenic (dominant) g.193311169G>T g.193593380G>T - - OPA1_000328 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline, Germline/De novo (untested) - - - - - Marc Ferre, Lampros Mavrogiannis
+/., ./. 2 1 c.6G>A r.(?) p.(Trp2*), p.(Trp2Ter) - - pathogenic, pathogenic (dominant) g.193311172G>A g.193593383G>A - - OPA1_000087 1 more item PubMed: Pesch 2001, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen, 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*) - ACMG likely pathogenic (recessive) g.193332529del g.193614740del - - OPA1_000616 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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 - c.53_62del r.(?) p.(Val18Alafs*4) - - likely pathogenic g.193332532_193332541del g.193614743_193614752del OPA1 c.53_62delTGAAACACAG, p.Val18fs - OPA1_000678 1 more item PubMed: Dockery 2017 - - Germline yes - - - - LOVD
-?/. 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) - ACMG likely pathogenic (recessive) g.193332565del g.193614776del - - OPA1_000618 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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
+/+?, +/. 2 2 c.91C>T r.(?) p.(Gln31*) - - likely pathogenic (dominant), pathogenic g.193332570C>T g.193614781C>T - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline, Germline/De novo (untested) ? - - - - Marc Ferre, Thomas Foulonneau
+/., +?/., ./. 4 2 c.112C>T r.(?), r.? p.(Arg38*), p.(Arg38Ter) Basic ACMG pathogenic, pathogenic (dominant) g.193332591C>T g.193614802C>T - - OPA1_000236 1 more item PubMed: Nakamura 2006, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline, Germline/De novo (untested) ?, yes - - - - Johan den Dunnen, Marc Ferre, Xingyu Xu
+/+?, -/., -?/., ./., ?/. 10 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) - OPA1_000082, OPA1_000397 VKGL data sharing initiative Nederland, 1 more item 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_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
+/., ./. 5 2 c.154C>T r.(?) p.(Arg52*), p.(Arg52Ter) - - pathogenic, pathogenic (dominant) g.193332633C>T g.193614844C>T - - OPA1_000166 1 more item PubMed: Ban 2007, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 4/278 case families - - - Johan den Dunnen, 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) - ACMG likely pathogenic (recessive) g.193332774_193332780dup g.193614985_193614991dup - - OPA1_000619 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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) - ACMG pathogenic (recessive) g.193333505del g.193615716del - - OPA1_000620 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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 3i_23i c.(448+1_449-1)_(2355+1_2356-1)del r.(?) p.(Glu150Valfs*5) - ACMG likely pathogenic (recessive) g.(193333560_193334966)_(193377351_193380610)del - del ex4-23 - OPA1_000621 CMG PVS1, PM2 PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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
+/., ./. 5 4i c.557-672G>A r.(?), r.spl p.(=), p.(Gly186Alafs*9) - - pathogenic, pathogenic (dominant) g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen, Tobias Bonifert
+/., ./. 5 4i c.557-668G>A r.(?), r.spl p.(=), p.[(Ser187Alafs*28),(Ser187Alafs*29)] - - pathogenic, pathogenic (dominant) g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Johan den Dunnen, 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.? - ACMG likely pathogenic (recessive) g.193336650_193336655del g.193618861_193618866del - - OPA1_000622 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - Nicole Weisschuh
?/. 1 - c.563C>T r.(?) p.(Pro188Leu) - - VUS g.193336664C>T - OPA1(NM_130837.2):c.617C>T (p.P206L) - OPA1_000665 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 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) - ACMG VUS g.193336673C>T g.193618884C>T - - OPA1_000623 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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) - ACMG likely pathogenic (recessive) g.193336687dup g.193618898dup - - OPA1_000624 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - 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
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »