Full data view for 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.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+? - c.(2440+1_2441-1))_(2872+1_2873-1)dup pathogenic r.? p.? - Parent #1 g.(193376785_193377270)_(193384179_193384958)dup - - - OPA1_000523 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA A205 PubMed: Chen 2014 - M - - - - 0 - - 1 Thomas Foulonneau
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - ? - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - ? - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? - c.(?_-234)_(32+1_33-1)del pathogenic r.? p.? - Parent #1 g.(193300000_193310933)_(193311199_193332511)del - - - OPA1_000461 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA 076015 PubMed: Chen 2014 - F - - - - 0 - - 1 Thomas Foulonneau
?/. - c.-8C>T VUS r.(?) p.(=) - Unknown g.193311159C>T - OPA1():c.-8C>T - OPA1_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? _1_6i c.(?_-1)_(678+1_679-1)del pathogenic r.0? p.0? Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Fuhrmann 2009 - - - - - - 0 - - 1 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) Unknown 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 - DNA SEQ Blood - OPA FamOAK230 PubMed: Fuhrmann 2009 2-generation family, affected father, son and daughter F;M - - - - 0 - - 3 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) Unknown 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 - DNA SEQ Blood - OPA FamOAK103 PubMed: Fuhrmann 2009 - F - - - - 0 - - 2 Marc Ferre
+/+? _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del pathogenic r.(?) p.? - Unknown g.(193000000_193409851)_(193415602_194000000)del - Heterozygous deletion of exons 28 and 29 of OPA1 - OPA1_000456 - PubMed: Lynch 2017 - - Germline - - - 0 - protein Western - - OPA - PubMed: Lynch 2017 - - - - - - 0 - - 3 Thomas Foulonneau
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA 26620927-PatII2 PubMed: Biamino 2016 4-generation family, 8 affected (6F, 2M), PatII2 F no ? (unknown) - 72y 0 - - 8 Thomas Foulonneau
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA II.3 PubMed: Biamino 2016 - M no ? (unknown) - 70y 0 - - 1 Thomas Foulonneau
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA III.1 PubMed: Biamino 2016 - M no ? (unknown) - 38y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA III.4 PubMed: Biamino 2016 - F no ? (unknown) - 39y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA III.5 PubMed: Biamino 2016 - F no ? (unknown) - 40y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown 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 - DNA arrayCGH Peripheral blood - OPA III.6 PubMed: Biamino 2016 - F no ? (unknown) - 48y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Maternal (confirmed) 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 - DNA arrayCGH Peripheral blood - OPA IV.2 PubMed: Biamino 2016 - F no ? (unknown) - 09y 0 - - 1 Thomas Foulonneau
+/. - c.1A>T pathogenic r.(?) p.? - Unknown g.193311167A>T - OPA1(NM_130837.2):c.1A>T - OPA1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.3G>A likely pathogenic r.(?) p.0? Basic (exons 1-3) Unknown g.193311169G>A g.193593380G>A - - OPA1_000348 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? - c.3G>A pathogenic r.? p.? - Parent #1 g.193311169G>A - - - OPA1_000348 - Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BtsCI-, FokI- 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+?/? 1 c.3G>T likely pathogenic r.(?) p.0? Basic (exons 1-3) Unknown g.193311169G>T g.193593380G>T - - OPA1_000328 Mutation in start codon of gene OPA1 Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 1 c.6G>A pathogenic r.(?) p.(Trp2*) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Pesch 2001 - - - - - - 0 - - 1 Marc Ferre
+?/? 1 c.9_14del likely pathogenic r.(?) p.(Leu4_Arg5del) - Unknown g.193311175_193311180del - - - OPA1_000437 - PubMed: Hayashi 2017 - - Germline - - - 0 - DNA SEQ Blood - OPA II.2 PubMed: Hayashi 2017 - F no (Japan) - 17y 0 - - 1 Thomas Foulonneau
+/+? 1 c.22G>T pathogenic r.(?) p.(Ala8Ser) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? - c.30del pathogenic r.(?) p.(Cys11Valfs*7) - Parent #1 g.193311196del - c.30delC - OPA1_000462 - Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I- 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
?/. 1i c.32+24C>G VUS r.(?) p.(=) - Parent #1 g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/? 1i c.32+87del VUS r.(?) p.? Non-specific domain Unknown g.193311285del g.193593496del - - OPA1_000333 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
-/-? 1i c.32+97G>A benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - ? - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
-?/. - c.33-4T>G likely benign r.spl? p.? - Unknown g.193332508T>G - OPA1(NM_130837.2):c.33-4T>G - OPA1_000547 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.33T>A pathogenic r.(?) p.(Cys11*) - Parent #1 g.193332512T>A - - - OPA1_000464 - PubMed: Chen 2014 - - Germline/De novo (untested) - - Hpy188I+, BtsIMutI-, TspRI- 0 - DNA SEQ Blood - OPA 076012 PubMed: Chen 2014 - M - - - - 0 - - 1 Thomas Foulonneau
+/+? - c.(32+1_33-1)_(351+1_352-1)dup pathogenic r.? p.? - Parent #1 g.(193311199_193332511)_(193332831_193333462)dup - - - OPA1_000463 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA A608 PubMed: Chen 2014 - M - - - - 0 - - 1 Thomas Foulonneau
+?/+? 1i_3i c.(32+1_33-1)_(448+1_449-1)del likely pathogenic r.spl p.? Basic (exons 1-3) Unknown g.(193311199_193332511)_(193333560_193334966)del - 33-?_448+?del - OPA1_000349 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA MLPA - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 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) Unknown 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 - DNA MLPA Blood - OPA - Mavrogiannis LA, Prescott K, Charlton RS (unpublished) - - - United Kingdom (Great Britain) - - 0 - - 1 Lampros Mavrogiannis
-?/? 2 c.43C>A likely benign r.(?) p.(Gln15Lys) Basic (exons 1-3) Unknown g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
-/. - c.43C>A benign r.(?) p.(Gln15Lys) - Unknown g.193332522C>A - OPA1(NM_130837.2):c.43C>A (p.Q15K) - OPA1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) - Parent #1 g.193332522C>A - - - OPA1_000318 - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4V+, BsrI- 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+/+? - c.50T>G pathogenic r.(?) p.(Leu17*) - Parent #1 g.193332529T>G - - - OPA1_000465 - Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BpuEI+, SmlI+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
-?/? 2 c.70A>G likely benign r.(?) p.(Ile24Val) Basic (exons 1-3) Unknown g.193332549A>G g.193614760A>G - - OPA1_000321 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
-?/. - c.70A>G likely benign r.(?) p.(Ile24Val) - Unknown g.193332549A>G - OPA1(NM_130837.2):c.70A>G (p.I24V) - OPA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.70A>G likely benign r.(?) p.(Ile24Val) - Unknown g.193332549A>G - OPA1(NM_130837.2):c.70A>G (p.I24V) - OPA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.71_73delinsAG pathogenic r.(?) p.(Ile24Lysfs*25) - Parent #1 g.193332550_193332552delinsAG - - - OPA1_000466 - PubMed: Chen 2014 - - Germline/De novo (untested) - - HpyAV+ 0 - DNA SEQ Blood - OPA A238 PubMed: Chen 2014 - M - - - - 0 - - 1 Thomas Foulonneau
-?/. - c.88C>T likely benign r.(?) p.(=) - Unknown g.193332567C>T - OPA1(NM_130837.2):c.88C>T (p.=) - OPA1_000548 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.91C>T pathogenic r.(?) p.(Gln31*) - Unknown g.193332570C>T - - - OPA1_000438 - PubMed: Ścieżyńska 2017 - - Germline - - - 0 - DNA PCRdig - - OPA - PubMed: Ścieżyńska 2017 2 families A(n=11) and B(n=6), 2 probands - no - (not applicable) - - 0 - - 17 Thomas Foulonneau
+/+? 2 c.112C>T pathogenic r.(?) p.(Arg38*) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Nakamura 2006 - - - Japan - - 0 - - 1 Marc Ferre
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - Unknown g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - DNA SEQ-NG - - SPG-18 - - - - - - - - 0 - - 1 Erik-Jan Kamsteeg
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Thiselton 2002 - - - Denmark - - 0 - - 1 Marc Ferre
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - - - M - France - - 0 - - 1 Angelique Caignard
+?/+? 2 c.113_130del likely pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Parent #1 g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - DNA SEQ - - OPA - - - F - United States European - 0 - - 1 Bjorn Oskarsson
-?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) - Unknown g.193332592_193332609del - OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.113_130del VUS r.(?) p.(Arg38_Ser43del) - Unknown 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 - - - - - - - - - - - - - - - - - - -
-/. 2 c.113_130del benign r.(?) p.(Arg38_Ser43del) - Maternal (confirmed) g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - DNA SEQ - - PHARC 27890673-FamPatII1 PubMed: Tingaud-Sequeira 2017 3-generation family, 1 affected, unaffected heterozygous carrier parents F no Sweden - - 0 - - 1 Johan den Dunnen
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - Unknown g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Le Roux 2019, submitted - - Germline - - - 0 - DNA SEQ Blood - OPA - Le Roux 2019, submitted Updated from Lab-ID: ANG2013#8 M - France - - 0 - - 1 Bastien Le Roux
+/+? - c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) - Parent #1 g.193332592_193332609del - - - OPA1_000082 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - Hpy188III- 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
-?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) - Unknown g.193332592_193332609del - OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.132dup Pathogenie (dominant) r.(?) p.(His45Serfs*28) - Paternal (confirmed) g.193332611dup - - - OPA1_000542 - - - - Germline yes - - 0 - DNA SEQ-NG-IT Blood - OPA, OPA-1 - - - M no (France) - - 0 - - 1 Marc Ferre
+/+? - c.143T>G pathogenic r.(?) p.(Leu48*) - Parent #1 g.193332622T>G - - - OPA1_000467 - Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - LpnPI+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+/+? 2 c.154C>T pathogenic r.(?) p.(Arg52*) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ban 2007 - - - Japan - - 0 - - 1 Yuriko Ban
+/+? 2 c.181C>T pathogenic r.(?) p.(Gln61*) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Nakamura 2006 - - - Japan - - 0 - - 1 Marc Ferre
+/. - c.181C>T pathogenic r.(?) p.(Gln61*) - Unknown g.193332660C>T - OPA1(NM_130837.2):c.181C>T (p.Gln61*) - OPA1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.182A>G likely benign r.(?) p.(Gln61Arg) - Unknown g.193332661A>G - OPA1(NM_130837.2):c.182A>G (p.Q61R) - OPA1_000549 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exon 1-3) Unknown 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - F - France - - 0 - - 1 Bastien Le Roux
+?/+? - c.190_194del likely pathogenic r.(?) p.(Ser64Aspfs*7) - Parent #2 g.193332669_193332673del - - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - DNA SEQ-NG Muscle, peripheral blood, lymphocytes, fibroblasts - OPA P1 (II-2) PubMed: Nasca 2017 2-generation family, 1 proband, 2 unaffected, 1 unknown M - - - - 0 - - 1 Thomas Foulonneau
-/-? - c.190_194del benign r.(?) p.(Ser64Aspfs*7) - Parent #1 g.193332669_193332673del - - - OPA1_000459 - PubMed: Nasca 2017 - - Germline/De novo (untested) - - EarI-,MboII- 0 - DNA SEQ-NG Muscle, peripheral blood, lymphocytes, fibroblasts - OPA P1 (I-1) PubMed: Nasca 2017 2-generation family, 1 proband, 2 unaffected, 1 unknown M - - - - 0 - - 1 Thomas Foulonneau
+/+ 2 c.193_194del Pathogenic (dominant) r.(?) p.(Leu65Aspfs*7) - Parent #1 g.193332672_193332673del - - - OPA1_000544 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-IT Blood - OPA, OPA-1 - - - F - (France) - - 0 - - 1 Marc Ferre
+/+ 2 c.209T>A pathogenic r.(?) p.(Leu70*) - Parent #1 g.193332688T>A - - - OPA1_000566 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG Blood - OPA, OPA-1 - - - F - - - - 0 - - 1 Marc Ferre
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) - Parent #1 g.193332703del - - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) - Parent #1 g.193332703del - - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - M - France - - 0 - - 1 Bastien Le Roux
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) - Unknown 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - M - France - - 0 - - 1 Bastien Le Roux
+/+? - c.245A>G pathogenic r.(?) p.(Tyr82Cys) - Parent #1 g.193332724A>G - - - OPA1_000468 - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
?/. - c.245A>G VUS r.(?) p.(Tyr82Cys) - Unknown g.193332724A>G - OPA1(NM_130837.2):c.245A>G (p.Y82C) - OPA1_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.262_263delinsC Pathogenic (dominant) r.(?) p.(Phe88Leufs*6) - Parent #1 g.193332741_193332742delinsC - - - OPA1_000543 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I Peripheral blood - OPA, OPA-1 - - - M - (United Arab Emirates) - - 0 - - 1 Marc Ferre
+/+? 2 c.267G>A pathogenic r.(?) p.(Trp89*) Basic (exons 1-3) Unknown g.193332746G>A g.193614957G>A - - OPA1_000327 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 2 c.284C>T pathogenic r.(?) p.(Thr95Met) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
?/. - c.284C>T VUS r.(?) p.(Thr95Met) - Unknown g.193332763C>T - OPA1(NM_130837.2):c.284C>T (p.T95M) - OPA1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exon 1-3) Unknown 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - F - France - - 0 - - 1 Bastien Le Roux
-/-? 2 c.321G>A benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - ? - PubMed: Pesch 2001 - - - - - - 0 - - 1 Marc Ferre
-?/-? 2 c.321G>A likely benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Yu-Wai-Man 2010 - - - Italy - - 0 - - 1 Marc Ferre
+/+? - c.344C>T pathogenic r.(?) p.(Ala115Val) - Parent #1 g.193332823C>T - - - OPA1_000253 - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4III+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+?/+? 3 c.356_357del likely pathogenic r.(?) p.(Phe119*) Basic (exons 1-3) Unknown g.193333467_193333468del g.193615678_193615679del - - OPA1_000290 - PubMed: Almind 2012 - - Germline - - - 0 - DNA SEQ Blood - OPA - PubMed: Almind 2012 - - - Denmark - - 0 - - 1 Angelique Caignard
+/? 3 c.357del pathogenic r.(?) p.(Phe119Leufs*7) Basic (exons 1-3) Unknown g.193333468del g.193615679del - - OPA1_000323 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 3 c.361C>T pathogenic r.(?) p.(Gln121*) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
?/. 3 c.380C>T VUS r.(?) p.(Pro127Leu) - Parent #1 g.193333491C>T g.193615702C>T - - OPA1_000389 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.380C>T VUS r.(?) p.(Pro127Leu) - Unknown g.193333491C>T - OPA1(NM_130837.2):c.380C>T (p.P127L) - OPA1_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/? 3 c.381G>A likely benign r.(?) p.(=) Basic (exons 1-3) Parent #1 g.193333492G>A g.193615703G>A - - OPA1_000336 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? - c.419del pathogenic r.(?) p.(Val140Glyfs*24) - Parent #1 g.193333530del - c.419delT - OPA1_000469 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - BslI+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
-/-? 3 c.420G>T benign r.(?) p.(=) Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - ? - PubMed: Toomes 2001 - - - - - - 0 - - 1 Marc Ferre
-/. - c.420G>T benign r.(?) p.(=) - Unknown g.193333531G>T - OPA1(NM_130837.2):c.420G>T (p.=) - OPA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.420G>T likely benign r.(?) p.(=) - Unknown g.193333531G>T - OPA1(NM_130837.2):c.420G>T (p.=) - OPA1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? - c.422G>A pathogenic r.(?) p.(Trp141*) - Parent #1 g.193333533G>A - - - OPA1_000470 - Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+/+? 3i c.448+1G>C pathogenic r.spl p.? Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Thiselton 2002 - - - Belgium - - 0 - - 1 Marc Ferre
+/. - c.448+1G>T pathogenic r.spl? p.? - Unknown g.193333560G>T - OPA1(NM_130837.2):c.448+1G>T - OPA1_000418 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 3i c.448+2T>G pathogenic r.spl p.? Basic (exons 1-3) Unknown 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/? - c.449-34dup pathogenic r.(?) p.? - Parent #1 g.193334933dup - - - OPA1_000471 - PubMed: Li 2017 - - Germline/De novo (untested) - - AflII+, MseI+, SmlI+, DdeI- 0 - DNA SEQ Blood - OPA Le2934 PubMed: Li 2017 2-generation family, 1 proband, 4 unaffected M - (China) - - 0 - - 1 Thomas Foulonneau
+?/? 3i_10i c.(448+1_449-1)_(1035+1_1036-1)dup likely pathogenic r.? p.? GTPase (exons 10-17) Maternal (confirmed) 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 - DNA MLPA Blood - OPA - Mavrogiannis LA, Robertson L, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
-/-? 4 c.473G>A benign r.(?) p.(Ser158Asn) Non-specific domain Unknown 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 - DNA SEQ Blood - ? - PubMed: Toomes 2001 - - - - - - 0 - - 1 Marc Ferre
-/. - c.473G>A benign r.(?) p.(Ser158Asn) - Unknown g.193334991G>A - OPA1(NM_130837.2):c.473G>A (p.Ser158Asn) - OPA1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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