All transcript 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.

759 entries on 8 pages. Showing entries 1 - 100.
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Effect     

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     
+/+? - 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) - - - 0 - Thomas FOULONNEAU
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3) g.? - 26+12T>G - OPA1_000148 eOPA1 identifier (obsolete):OA_00158; Nucleotide change: T to G at 26+12 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Marc Ferre
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3) g.? - 27-5C>T - OPA1_000149 eOPA1 identifier (obsolete):OA_00159; Nucleotide change: C to T at 27-5 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Marc Ferre
+/+? - 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) - - - 0 - Thomas FOULONNEAU
+/+? _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 eOPA1 identifier (obsolete):OA_00280; Nucleotide change: Deletion of exons 1-5 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' markers D3S1601 and D3S3642 not deleted PubMed: Fuhrmann 2009 - - Germline - - - 0 - Marc Ferre
+/+? _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 eOPA1 identifier (obsolete):OA_00282; Nucleotide change: Large deletion of exons 1-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' deletion includes D3S3669 but not D3S1601 PubMed: Fuhrmann 2009 - - Germline yes - - 0 - Marc Ferre
+/+? _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 eOPA1 identifier (obsolete):OA_00284; Nucleotide change: Complete deletion (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 28 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' deletion includes D3S3669 but not D3S1601, 3' includes D3S2748 but not D3S1305 PubMed: Fuhrmann 2009 - - Germline - - - 0 - Marc Ferre
+/+? _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 - - - 0 - Thomas FOULONNEAU
+/+? _1_31 c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline yes - - 0 - Thomas FOULONNEAU
+/+? _1_31 c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? _1_31 c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? _1_31_ c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? _1_31_ c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? _1_31_ c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - g.193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? _1_31_ c.0 pathogenic r.0 p.0 - g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline yes - - 0 - Thomas FOULONNEAU
+?/? 1 c.3G>A likely pathogenic r.(?) p.0? Basic (exons 1-3) g.193311169G>A g.193593380G>A - - OPA1_000348 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
+/+? - c.3G>A pathogenic r.? p.? - g.193311169G>A - - - OPA1_000348 - Amati-Bonneau P, Angers 2011 (unpublished) - - Germline/De novo (untested) - - BtsCI-, FokI- 0 - Marc Ferre
+?/? 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 - - - 0 - Lampros Mavrogiannis
+/+? 1 c.6G>A pathogenic r.(?) p.(Trp2*) Basic (exons 1-3) g.193311172G>A g.193593383G>A - - OPA1_000087 eOPA1 identifier (obsolete):OA_00096; Nucleotide change: G to A at 6 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Pesch 2001 - - Germline - - - 0 - Marc Ferre
+?/? 1 c.9_14del likely pathogenic r.(?) p.(Leu4_Arg5del) - g.193311175_193311180del - - - OPA1_000437 - PubMed: Hayashi 2017 - - Germline - - - 0 - Thomas FOULONNEAU
+/+? 1 c.22G>T pathogenic r.(?) p.(Ala8Ser) Basic (exons 1-3) g.193311188G>T g.193593399G>T - - OPA1_000117 eOPA1 identifier (obsolete):OA_00147; Nucleotide change: G to T at 22 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Marc Ferre
+/+? - c.30del pathogenic r.(?) p.(Cys11Valfs*7) - g.193311196del - c.30delC - OPA1_000462 - Amati-Bonneau P, Angers 2010 (unpublished) - - Germline/De novo (untested) - - BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I- 0 - Marc Ferre
?/. 1i c.32+24C>G VUS r.(?) p.(=) - g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - 0 - Andreas Laner
?/? 1i c.32+87del VUS r.(?) p.? Non-specific domain g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-/-? 1i c.32+97G>A benign r.(?) p.(=) Basic (exons 1-3) g.193311295G>A g.193593506G>A c.1+97G>A - OPA1_000144 eOPA1 identifier (obsolete):OA_00154; Nucleotide change: G to A at 1+97 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Marc Ferre
+/+? - c.33T>A pathogenic r.(?) p.(Cys11*) - g.193332512T>A - - - OPA1_000464 - PubMed: Chen 2014 - - Germline/De novo (untested) - - Hpy188I+, BtsIMutI-, TspRI- 0 - Thomas FOULONNEAU
+/+? - 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) - - - 0 - Thomas FOULONNEAU
+?/+? 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 - - - 0 - Lampros Mavrogiannis
+?/+? 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 eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP Mavrogiannis LA, Prescott K, Charlton RS (unpublished) - - Germline yes - - 0 - Lampros Mavrogiannis
-?/? 2 c.43C>A likely benign r.(?) p.(Gln15Lys) Basic (exons 1-3) g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-/. - c.43C>A benign r.(?) p.(Gln15Lys) - g.193332522C>A - OPA1:c.43C>A (Q15K) - OPA1_000318 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) - g.193332522C>A - - - OPA1_000318 - Amati-Bonneau P, (unpublished) - - Germline/De novo (untested) - - HpyCH4V+, BsrI- 0 - Marc Ferre
+/+? - c.50T>G pathogenic r.(?) p.(Leu17*) - g.193332529T>G - - - OPA1_000465 - Amati-Bonneau P, Angers2014 (unpublished) - - Germline/De novo (untested) - - BpuEI+, SmlI+ 0 - Marc Ferre
-?/? 2 c.70A>G likely benign r.(?) p.(Ile24Val) Basic (exons 1-3) g.193332549A>G g.193614760A>G - - OPA1_000321 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-?/. - c.70A>G likely benign r.(?) p.(Ile24Val) - g.193332549A>G - OPA1:c.70A>G (I24V) - OPA1_000321 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+? - c.71_73delinsAG pathogenic r.(?) p.(Ile24Lysfs*25) - g.193332550_193332552delinsAG - - - OPA1_000466 - PubMed: Chen 2014 - - Germline/De novo (untested) - - HpyAV+ 0 - Thomas FOULONNEAU
+/+? 2 c.91C>T pathogenic r.(?) p.(Gln31*) - g.193332570C>T - - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline - - - 0 - Thomas FOULONNEAU
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/+? 2 c.112C>T pathogenic r.(?) p.(Arg38*) Basic (exons 1-3) g.193332591C>T g.193614802C>T - - OPA1_000236 eOPA1 identifier (obsolete):OA_00245; Nucleotide change: C to T at 112 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Nakamura 2006 - - Germline yes - - 0 - Marc Ferre
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Erik-Jan Kamsteeg
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del 112_139del18 - OPA1_000082 eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - 0 - Marc Ferre
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del 112_139del18 - OPA1_000082 eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - 0 - Angelique Caignard
+?/+? 2 c.113_130del likely pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Bjorn Oskarsson
?/. - c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del) - OPA1_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2 c.113_130del benign r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - Johan den Dunnen
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Bastien Le Roux
+/+? - c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - - - OPA1_000082 - Amati-Bonneau P, Angers 2012 (unpublished) - - Germline/De novo (untested) - - Hpy188III- 0 - Marc Ferre
+/+? - c.143T>G pathogenic r.(?) p.(Leu48*) - g.193332622T>G - - - OPA1_000467 - Amati-Bonneau P, Angers 2013 (unpublished) - - Germline/De novo (untested) - - LpnPI+ 0 - Marc Ferre
+/+? 2 c.154C>T pathogenic r.(?) p.(Arg52*) Basic (exons 1-3) g.193332633C>T g.193614844C>T - - OPA1_000166 eOPA1 identifier (obsolete):OA_00175; Nucleotide change: C to T at 154 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ban 2007 - - Germline - - - 0 - Yuriko Ban
+/+? 2 c.181C>T pathogenic r.(?) p.(Gln61*) Basic (exons 1-3) g.193332660C>T g.193614871C>T - - OPA1_000158 eOPA1 identifier (obsolete):OA_00168; Nucleotide change: C to T at 181 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Nakamura 2006 - - Germline yes - - 0 - Marc Ferre
+/. - c.181C>T pathogenic r.(?) p.(Gln61*) - g.193332660C>T - OPA1:NM_130837.2:c.181C>T (Gln61*) - OPA1_000158 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exons 1-3) g.193332669del g.193614880del - - OPA1_000165 eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exon 1-3) g.193332669del g.193614880del - - OPA1_000165 eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Bastien Le Roux
+?/+? - c.190_194del likely pathogenic r.(?) p.(Ser64Aspfs*7) - g.193332669_193332673del - - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - Thomas FOULONNEAU
-/-? - c.190_194del benign r.(?) p.(Ser64Aspfs*7) - g.193332669_193332673del - - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - Thomas FOULONNEAU
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) - g.193332703del - - - OPA1_000423 - - - - Germline/De novo (untested) - - - 0 - Marc Ferre
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) - g.193332703del - - - OPA1_000423 - - - - Germline/De novo (untested) - - - 0 - Bastien Le Roux
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) Basic (exons 1-3) g.193332718A>G g.193614929A>G - - OPA1_000139 eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Marc Ferre
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) - g.193332718A>G g.193614929A>G - - OPA1_000139 eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - Bastien Le Roux
+/+? - c.245A>G pathogenic r.(?) p.(Tyr82Cys) - g.193332724A>G - - - OPA1_000468 - Amati-Bonneau P, Angers 2016 (unpublished) - - Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ 0 - Marc Ferre
+/+? 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 - - - 0 - Lampros Mavrogiannis
+/+? 2 c.284C>T pathogenic r.(?) p.(Thr95Met) Basic (exons 1-3) g.193332763C>T g.193614974C>T - - OPA1_000167 eOPA1 identifier (obsolete):OA_00176; Nucleotide change: C to T at 284 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exons 1-3) g.193332784A>G g.193614995A>G - - OPA1_000218 eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exon 1-3) g.193332784A>G g.193614995A>G - - OPA1_000218 eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Bastien Le Roux
-/-? 2 c.321G>A benign r.(?) p.(=) Basic (exons 1-3) g.193332800G>A g.193615011G>A - - OPA1_000041 eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Pesch 2001 - - Germline - - - 0 - Marc Ferre
-?/-? 2 c.321G>A likely benign r.(?) p.(=) Basic (exons 1-3) g.193332800G>A g.193615011G>A - - OPA1_000041 eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - Germline - - - 0 - Lampros Mavrogiannis
+/+? 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3) g.193332823C>T g.193615034C>T - - OPA1_000253 eOPA1 identifier (obsolete):OA_00266; Nucleotide change: C to T at 344 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Yu-Wai-Man 2010 - - Germline - - - 0 - Marc Ferre
+/+? - c.344C>T pathogenic r.(?) p.(Ala115Val) - g.193332823C>T - - - OPA1_000253 - Amati-Bonneau P, Angers 2017 (unpublished) - - Germline/De novo (untested) - - HpyCH4III+ 0 - Marc Ferre
+?/+? 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 - - - 0 - Angelique Caignard
+/? 3 c.357del pathogenic r.(?) p.(Phe119Leufs*7) Basic (exons 1-3) g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
+/+? 3 c.361C>T pathogenic r.(?) p.(Gln121*) Basic (exons 1-3) g.193333472C>T g.193615683C>T - - OPA1_000168 eOPA1 identifier (obsolete):OA_00177; Nucleotide change: C to T at 361 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
?/. 3 c.380C>T VUS r.(?) p.(Pro127Leu) - g.193333491C>T g.193615702C>T - - OPA1_000389 - - - - Germline - - - 0 - Andreas Laner
?/. - c.380C>T VUS r.(?) p.(Pro127Leu) - g.193333491C>T - OPA1:c.380C>T (P127L) - OPA1_000389 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/? 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 - - - 0 - Lampros Mavrogiannis
+/+? - c.419del pathogenic r.(?) p.(Val140Glyfs*24) - g.193333530del - c.419delT - OPA1_000469 - Amati-Bonneau P, Angers 2012 (unpublished) - - Germline/De novo (untested) - - BslI+ 0 - Marc Ferre
-/-? 3 c.420G>T benign r.(?) p.(=) Basic (exons 1-3) g.193333531G>T g.193615742G>T - - OPA1_000042 eOPA1 identifier (obsolete):OA_00045; Nucleotide change: G to T at 420 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Toomes 2001 - - Germline - - - 0 - Marc Ferre
-/. - c.420G>T benign r.(=) p.(=) - g.193333531G>T - OPA1:c.420G>T (=) - OPA1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.420G>T likely benign r.(=) p.(=) - g.193333531G>T - OPA1:c.420G>T (=) - OPA1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+? - c.422G>A pathogenic r.(?) p.(Trp141*) - g.193333533G>A - - - OPA1_000470 - Amati-Bonneau P, Angers 2015 (unpublished) - - Germline/De novo (untested) - - - 0 - Marc Ferre
+/+? 3i c.448+1G>C pathogenic r.spl p.? Basic (exons 1-3) g.193333560G>C g.193615771G>C - - OPA1_000076 eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect PubMed: Thiselton 2002 - - Germline - - - 0 - Marc Ferre
+/. - 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 - - - 0 - VKGL-NL_Nijmegen
+/+? 3i c.448+2T>G pathogenic r.spl p.? Basic (exons 1-3) g.193333561T>G g.193615772T>G - - OPA1_000169 eOPA1 identifier (obsolete):OA_00178; Nucleotide change: T to G at 448+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
+/? - c.449-34dup pathogenic r.(?) p.? - g.193334933dup - - - OPA1_000471 - PubMed: Li 2017 - - Germline/De novo (untested) - - AflII+, MseI+, SmlI+, DdeI- 0 - Thomas FOULONNEAU
+?/? 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 - - - 0 - Lampros Mavrogiannis
-/-? 4 c.473G>A benign r.(?) p.(Ser158Asn) Non-specific domain g.193334991G>A g.193617202G>A 473A>G (Asn158Ser) - OPA1_000043 eOPA1 identifier (obsolete):OA_00046; Nucleotide change: A to G at 473 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Toomes 2001 - - Germline - - - 0 - Marc Ferre
-/. - c.473G>A benign r.(?) p.(Ser158Asn) - g.193334991G>A - OPA1:NM_130837.2:c.473G>A (Ser158Asn) - OPA1_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/-? 4 c.478G>C benign r.(?) p.(Glu160Gln) Non-specific domain g.193334996G>C g.193617207G>C - - OPA1_000044 eOPA1 identifier (obsolete):OA_00047; Nucleotide change: G to C at 478 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Toomes 2001 - - Germline - - - 0 - Marc Ferre
-/-? 4 c.500C>T benign r.(?) p.(Pro167Leu) Non-specific domain g.193335018C>T g.193617229C>T - - OPA1_000045 eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - 0 - Marc Ferre
-?/-? 4 c.534A>G likely benign r.(?) p.(=) Non-specific domain g.193335052A>G g.193617263A>G - - OPA1_000341 - - - - Germline - - - 0 - Lampros Mavrogiannis
-/-? 4i c.556+178G>T benign r.(?) p.(=) Non-specific domain g.193335252G>T g.193617463G>T - - OPA1_000047 eOPA1 identifier (obsolete):OA_00050; Nucleotide change: G to T at 556+178 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Delettre 2001 - - Germline - - - 0 - Marc Ferre
?/. - 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 - - - 0 - VKGL-NL_AMC
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain g.193335990G>A g.193618201G>A - - OPA1_000282 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
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