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.

854 entries on 9 pages. Showing entries 1 - 100.
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Effect     

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     
+/+? - 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) - - - 0 - Thomas Foulonneau
?/. - c.-277C>T r.(?) p.(=) - - VUS g.193310890C>T g.193593101C>T - - OPA1_000394 - - - rs181230813 Germline - - - 0 - Andreas Laner
+/+? - 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) - - - 0 - Thomas Foulonneau
?/. - c.-8C>T r.(?) p.(=) - - VUS g.193311159C>T g.193593370C>T - - OPA1_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - 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
./. - c.(?_-1)_(624+1_625-1)del r.0? p.0? - - pathogenic 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
./. - c.(?_-1)_(2818+1_2819-1)del r.0? p.0? - - pathogenic 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
./. - c.(?_-1)_(*3211_?)del r.0? p.0? - - pathogenic 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
./. - 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 - - - 0 - Lampros Mavrogiannis
+/+? _1_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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_29_ c.0 r.0 p.0 - - pathogenic 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
+/. - 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
./. - c.3G>A r.(?) p.(Met1?) - - likely pathogenic 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 r.(?) p.(Met1?) - - pathogenic g.193311169G>A g.193593380G>A - - OPA1_000348 - Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BtsCI-, FokI- 0 - Marc Ferre
./. - 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 - - - 0 - Lampros Mavrogiannis
./. - c.6G>A r.(?) p.(Trp2*) - - pathogenic 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.7C>T r.(?) p.(Arg3*) - - likely pathogenic (dominant) g.193311173C>T g.193593384C>T - - OPA1_000581 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
+?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) - - likely pathogenic g.193311175_193311180del g.193593386_193593391del - - OPA1_000437 - PubMed: Hayashi 2017 - - Germline - - - 0 - Thomas Foulonneau
./. - c.22G>T r.(?) p.(Ala8Ser) - - pathogenic 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 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- 0 - Marc Ferre
?/. - c.32+24C>G r.(?) p.(=) - - VUS g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - 0 - Andreas Laner
./. - c.32+87del r.(?) p.(=) - - VUS g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
./. - c.32+97G>A r.(?) p.(=) - - benign 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.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
+/+? - 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- 0 - Thomas Foulonneau
+/+? - 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) - - - 0 - Thomas Foulonneau
./. - 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 - - - 0 - Lampros Mavrogiannis
./. - 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 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
./. - c.43C>A r.(?) p.(Gln15Lys) - - likely benign g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-/. - c.43C>A r.(?) p.(Gln15Lys) - - benign g.193332522C>A g.193614733C>A OPA1(NM_130837.2):c.43C>A (p.Q15K) - OPA1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/-? - c.43C>A r.(?) p.(Gln15Lys) - - likely benign g.193332522C>A g.193614733C>A - - OPA1_000318 - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4V+, BsrI- 0 - Marc Ferre
+/+? - 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+ 0 - Marc Ferre
./. - c.70A>G r.(?) p.(Ile24Val) - - likely benign g.193332549A>G g.193614760A>G - - OPA1_000321 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-?/. - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.70A>G r.(?) p.(Ile24Val) - - likely benign g.193332549A>G - OPA1(NM_130837.2):c.70A>G (p.I24V) - OPA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? - c.71_73delinsAG r.(?) p.(Ile24Lysfs*25) - - pathogenic g.193332550_193332552delinsAG g.193614761_193614763delinsAG - - OPA1_000466 - PubMed: Chen 2014 - - Germline/De novo (untested) - - HpyAV+ 0 - Thomas Foulonneau
+?/. - c.73A>T r.(?) p.(Lys25*) - ACMG likely pathogenic g.193332552A>T g.193614763A>T - - OPA1_000586 ACMG grading: PVS1,PM2 - - - Germline - - - 0 - Andreas Laner
-?/. - 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 c.91C>T r.(?) p.(Gln31*) - - pathogenic g.193332570C>T g.193614781C>T - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline - - - 0 - Thomas Foulonneau
./. - c.112C>T r.(?) p.(Arg38*) - - pathogenic 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 r.(?) p.(Arg38_Ser43del) - - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Erik-Jan Kamsteeg
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic 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
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic 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
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Bjorn Oskarsson
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely benign g.193332592_193332609del g.193614803_193614820del OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - benign g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - Johan den Dunnen
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Le Roux 2019, submitted - - Germline - - - 0 - Bastien Le Roux
+/+? - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - Hpy188III- 0 - Marc Ferre
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely benign g.193332592_193332609del g.193614803_193614820del OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 c.132dup r.(?) p.(His45Serfs*28) - - pathogenic (dominant) g.193332611dup g.193614822dup - - OPA1_000542 - - - - Germline yes - - 0 - Marc Ferre
+/+? - 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+ 0 - Marc Ferre
./. - c.154C>T r.(?) p.(Arg52*) - - pathogenic 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
./. - c.181C>T r.(?) p.(Gln61*) - - pathogenic 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
+/+? 2 c.181C>T r.(?) p.(Gln61Ter) - - pathogenic g.193332660C>T g.193614871C>T - - OPA1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
./. - c.190del r.(?) p.(Ser64Leufs*2) - - pathogenic 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
+/+? - c.190del r.(?) p.(Ser64Leufs*2) Basic (exon 1-3) - pathogenic 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 r.(?) p.(Ser64Aspfs*7) - - likely pathogenic g.193332669_193332673del g.193614880_193614884del - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - Thomas Foulonneau
-/-? - c.190_194del r.(?) p.(Ser64Aspfs*7) - - benign g.193332669_193332673del g.193614880_193614884del - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - Thomas Foulonneau
+/+ 2 c.193_194del r.(?) p.(Leu65Aspfs*7) - - pathogenic (dominant) g.193332672_193332673del g.193614883_193614884del - - OPA1_000544 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
+/+ 2 c.209T>A r.(?) p.(Leu70*) - - pathogenic g.193332688T>A g.193614899T>A - - OPA1_000566 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) - - pathogenic g.193332703del g.193614914del - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Marc Ferre
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) - - pathogenic g.193332703del g.193614914del - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Bastien Le Roux
-?/. - 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
./. - c.239A>G r.(?) p.(Tyr80Cys) - - pathogenic 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
+/+? - c.239A>G r.(?) p.(Tyr80Cys) - - pathogenic 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.239A>G r.(?) p.(Tyr80Cys) - - likely benign g.193332718A>G g.193614929A>G OPA1(NM_130837.2):c.239A>G (p.Y80C) - OPA1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? - c.245A>G r.(?) p.(Tyr82Cys) - - pathogenic g.193332724A>G g.193614935A>G - - OPA1_000468 - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ 0 - Marc Ferre
?/. - c.245A>G r.(?) p.(Tyr82Cys) - - VUS g.193332724A>G g.193614935A>G OPA1(NM_130837.2):c.245A>G (p.Y82C) - OPA1_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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
+/+ 2 c.262_263delinsC r.(?) p.(Phe88Leufs*6) - - pathogenic (dominant) g.193332741_193332742delinsC g.193614952_193614953delinsC - - OPA1_000543 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
./. - c.267G>A r.(?) p.(Trp89*) - - pathogenic g.193332746G>A g.193614957G>A - - OPA1_000327 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
./. - c.284C>T r.(?) p.(Thr95Met) - - pathogenic 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
?/. - c.284C>T r.(?) p.(Thr95Met) - - VUS g.193332763C>T g.193614974C>T OPA1(NM_130837.2):c.284C>T (p.T95M) - OPA1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.305A>G r.(?) p.(Tyr102Cys) - - pathogenic 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
+/+? - c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3) - pathogenic 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
./. - c.321G>A r.(?) p.(=) - - benign 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
./. - c.321G>A r.(?) p.(=) - - likely benign 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
./. - c.344C>T r.(?) p.(Ala115Val) - - pathogenic 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 r.(?) p.(Ala115Val) - - pathogenic g.193332823C>T g.193615034C>T - - OPA1_000253 - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4III+ 0 - Marc Ferre
./. - c.356_357del r.(?) p.(Phe119*) - - likely pathogenic g.193333467_193333468del g.193615678_193615679del - - OPA1_000290 - PubMed: Almind 2012 - - Germline - - - 0 - Angelique Caignard
./. - c.357del r.(?) p.(Phe119Leufs*7) - - pathogenic g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
./. - c.361C>T r.(?) p.(Gln121*) - - pathogenic 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
?/. - c.380C>T r.(?) p.(Pro127Leu) - - VUS g.193333491C>T g.193615702C>T - - OPA1_000389 - - - - Germline - - - 0 - Andreas Laner
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
./. - c.381G>A r.(?) p.(=) - - likely benign g.193333492G>A g.193615703G>A - - OPA1_000336 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
+/+? - 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+ 0 - Marc Ferre
./. - c.420G>T r.(?) p.(=) - - benign 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 r.(?) p.(Val140=) - - benign g.193333531G>T g.193615742G>T OPA1(NM_130837.2):c.420G>T (p.V140=) - OPA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.420G>T r.(?) p.(Val140=) - - likely benign g.193333531G>T g.193615742G>T OPA1(NM_130837.2):c.420G>T (p.V140=) - OPA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.420G>T r.(?) p.(Val140=) - - likely benign g.193333531G>T g.193615742G>T OPA1(NM_130837.2):c.420G>T (p.V140=) - OPA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? - 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) - - - 0 - Marc Ferre
./. - c.448+1G>C r.spl? p.? - - pathogenic 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
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