Full data view for gene OPA1

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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.

902 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+? - c.(2440+1_2441-1))_(2872+1_2873-1)dup r.? p.? - Parent #1 - pathogenic 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.? r.(?) p.(=) Basic (exons 1-3) Unknown - benign 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.? r.(?) p.(=) Basic (exons 1-3) Unknown - benign 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.? r.(?) p.? - Unknown - likely pathogenic g.? - 980G>A Arg327Gln CGG>CAG - OPA1_000148 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 962 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 -
+?/. - c.? r.? p.? - Unknown - likely pathogenic g.? - del ex8-31 - OPA1_000148 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 965 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #1 - pathogenic g.? - 1240G>A (V414I) - OPA1_000148 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - WES glaucoma G493 PubMed: Huang 2014 - F - China - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #1 - pathogenic g.? - 658_660del (Q219_I221del) - OPA1_000148 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - WES glaucoma G566 PubMed: Huang 2014 - F - China - - 0 - - 1 -
+/. - c.? r.? p.? - Parent #1 - pathogenic g.? - 1781G>A (R594Q) - OPA1_000148 - PubMed: Huang 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - WES glaucoma G577 PubMed: Huang 2014 - F - China - - 0 - - 1 -
+/+? - c.(?_-234)_(32+1_33-1)del r.? p.? - Parent #1 - pathogenic 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 r.(?) p.(=) - Unknown - VUS g.193311159C>T g.193593370C>T - - OPA1_000545 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3G>A r.(?) p.(=) - Unknown - VUS g.193311164G>A g.193593375G>A OPA1(NM_130837.2):c.-3G>A - OPA1_000568 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? _1_6i c.(?_-1)_(678+1_679-1)del r.0? p.0? Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Fuhrmann 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? _1_29i c.(?_-1)_(2983+1_2984-1)del r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) Unknown - 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 - 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 r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) Unknown - 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 - DNA SEQ Blood - OPA FamOAK103 PubMed: Fuhrmann 2009 - F - - - - 0 - - 2 Marc Ferre
+/+? _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del r.(?) p.? - Unknown - pathogenic 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 r.0 p.0 - Unknown - 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 - 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 r.0 p.0 - Unknown - 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 - DNA arrayCGH Peripheral blood - OPA II.3 PubMed: Biamino 2016 - M no ? (unknown) - 70y 0 - - 1 Thomas Foulonneau
+/+? _1_31 c.0 r.0 p.0 - Unknown - 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 - DNA arrayCGH Peripheral blood - OPA III.1 PubMed: Biamino 2016 - M no ? (unknown) - 38y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 r.0 p.0 - Unknown - 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 - DNA arrayCGH Peripheral blood - OPA III.4 PubMed: Biamino 2016 - F no ? (unknown) - 39y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 r.0 p.0 - Unknown - 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 - DNA arrayCGH Peripheral blood - OPA III.5 PubMed: Biamino 2016 - F no ? (unknown) - 40y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 r.0 p.0 - Unknown - 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 - DNA arrayCGH Peripheral blood - OPA III.6 PubMed: Biamino 2016 - F no ? (unknown) - 48y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 r.0 p.0 - Maternal (confirmed) - 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 - DNA arrayCGH Peripheral blood - OPA IV.2 PubMed: Biamino 2016 - F no ? (unknown) - 09y 0 - - 1 Thomas Foulonneau
+?/. - c.2778+521_*3211{0} r.? p.? - Unknown - likely pathogenic g.193383306_193420756del - del ex25-31 Chr3:193383306-193420756del - OPA1_000600 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 964 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 -
+/. - c.1A>T r.(?) p.(Met1?) - Unknown - pathogenic g.193311167A>T g.193593378A>T - - OPA1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.3G>A - p.0? Basic (exons 1-3) Unknown - likely pathogenic 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 r.(?) p.(Met1?) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+?/? 1 c.3G>T - p.0? Basic (exons 1-3) Unknown - likely pathogenic 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 r.(?) p.(Trp2*) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Pesch 2001 - - - - - - 0 - - 1 Marc Ferre
+?/+? 1 c.7C>T r.(?) p.(Arg3*) - Parent #1 - likely pathogenic (dominant) g.193311173C>T g.193593384C>T - - OPA1_000581 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG Blood - OPA, OPA-1 - - - M ? (France) - - 0 - - 1 Marc Ferre
+?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) - Unknown - likely pathogenic g.193311175_193311180del g.193593386_193593391del - - 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 r.(?) p.(Ala8Ser) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? - c.30del r.(?) p.(Cys11Valfs*7) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
?/. 1i c.32+24C>G r.(?) p.(=) - Parent #1 - VUS g.193311222C>G g.193593433C>G - - OPA1_000390 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/? 1i c.32+87del r.(?) p.(=) Non-specific domain Unknown - VUS 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 r.(?) p.(=) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - ? - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
-?/. - c.33-4T>G r.spl? p.? - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.33T>A r.(?) p.(Cys11*) - Parent #1 - pathogenic g.193332512T>A g.193614723T>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 r.? p.? - Parent #1 - pathogenic 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 r.spl p.? Basic (exons 1-3) Unknown - likely pathogenic 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 r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) Unknown - 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 - DNA MLPA Blood - OPA - Mavrogiannis LA, Prescott K, Charlton RS (unpublished) - - - United Kingdom (Great Britain) - - 0 - - 1 Lampros Mavrogiannis
-?/? 2 c.43C>A r.(?) p.(Gln15Lys) Basic (exons 1-3) Unknown - likely benign 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 r.(?) p.(Gln15Lys) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/-? - c.43C>A r.(?) p.(Gln15Lys) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+/+? - c.50T>G r.(?) p.(Leu17*) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+?/. 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic Paternal (inferred) ACMG pathogenic (dominant) g.193332539_193332540del g.193614750_193614751del - - OPA1_000604 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - OPA-1 - - - - ? China Asian - - - - 1 Xingyu Xu
-?/? 2 c.70A>G r.(?) p.(Ile24Val) Basic (exons 1-3) Unknown - likely benign 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 r.(?) p.(Ile24Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.70A>G r.(?) p.(Ile24Val) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70A>G r.(?) p.(Ile24Val) - Unknown - likely benign g.193332549A>G - OPA1(NM_130837.2):c.70A>G (p.I24V) - OPA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.71_73delinsAG r.(?) p.(Ile24Lysfs*25) - Parent #1 - pathogenic g.193332550_193332552delinsAG g.193614761_193614763delinsAG - - 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 r.(?) p.(Leu30=) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.91C>T r.(?) p.(Gln31*) - Unknown - pathogenic g.193332570C>T g.193614781C>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 r.(?) p.(Arg38*) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Nakamura 2006 - - - Japan - - 0 - - 1 Marc Ferre
+?/. 2 c.112C>T r.? p.(Arg38*) Basic Unknown ACMG pathogenic (dominant) g.193332591C>T - - - OPA1_000236 - - - - Germline - - - 0 - DNA SEQ Blood - OPA-1 - - - M - China Asian - - - - 1 Xingyu Xu
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - Unknown - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - DNA SEQ-NG - - SPG-18 - - - - - - - - 0 - - 1 Erik-Jan Kamsteeg
+/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Thiselton 2002 - - - Denmark - - 0 - - 1 Marc Ferre
+/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - - - M - France - - 0 - - 1 Angelique Caignard
+?/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Parent #1 - likely pathogenic 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 r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) Unknown - pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - DNA SEQ - - OPA - - - F - United States European - 0 - - 1 Bjorn Oskarsson
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/? 2 c.113_130del r.(?) p.(Arg38_Ser43del) - Unknown - VUS g.193332592_193332609del g.193614803_193614820del OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del) - OPA1_000082 VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center. - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - Maternal (confirmed) - benign 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 r.(?) p.(Arg38_Ser43del) - Unknown - VUS 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 r.(?) p.(Arg38_Ser43del) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.132dup r.(?) p.(His45Serfs*28) - Paternal (confirmed) - pathogenic (dominant) g.193332611dup g.193614822dup - - OPA1_000542 - - - - Germline yes - - 0 - DNA SEQ-NG-IT Blood - OPA, OPA-1 - - - M no (France) - - 0 - - 1 Marc Ferre
+/+? - c.143T>G r.(?) p.(Leu48*) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
+/+? 2 c.154C>T r.(?) p.(Arg52*) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Ban 2007 - - - Japan - - 0 - - 1 Yuriko Ban
+/+? 2 c.181C>T r.(?) p.(Gln61*) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Nakamura 2006 - - - Japan - - 0 - - 1 Marc Ferre
+/+? 2 c.181C>T r.(?) p.(Gln61Ter) - Unknown - pathogenic g.193332660C>T g.193614871C>T - - OPA1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.182A>G r.(?) p.(Gln61Arg) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.190del r.(?) p.(Ser64Leufs*2) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.190del r.(?) p.(Ser64Leufs*2) Basic (exon 1-3) Unknown - 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - F - France - - 0 - - 1 Bastien Le Roux
+?/+? - c.190_194del r.(?) p.(Ser64Aspfs*7) - Parent #2 - likely pathogenic g.193332669_193332673del g.193614880_193614884del - - 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 r.(?) p.(Ser64Aspfs*7) - Parent #1 - benign g.193332669_193332673del g.193614880_193614884del - - 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 r.(?) p.(Leu65Aspfs*7) - Parent #1 - pathogenic (dominant) g.193332672_193332673del g.193614883_193614884del - - 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 r.(?) p.(Leu70*) - Parent #1 - pathogenic g.193332688T>A g.193614899T>A - - OPA1_000566 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG Blood - OPA, OPA-1 - - - F - - - - 0 - - 1 Marc Ferre
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) - Parent #1 - pathogenic g.193332703del g.193614914del - - OPA1_000423 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) - Parent #1 - pathogenic g.193332703del g.193614914del - - 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
-?/. - c.237A>G r.(?) p.(Lys79=) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238T>C r.(?) p.(Tyr80His) - Unknown - likely benign g.193332717T>C - OPA1(NM_130837.2):c.238T>C (p.Y80H) - OPA1_000598 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.239A>G r.(?) p.(Tyr80Cys) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.239A>G r.(?) p.(Tyr80Cys) - Unknown - 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - M - France - - 0 - - 1 Bastien Le Roux
-?/. - c.239A>G r.(?) p.(Tyr80Cys) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.245A>G r.(?) p.(Tyr82Cys) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
?/. - c.245A>G r.(?) p.(Tyr82Cys) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254G>A r.(?) p.(Arg85His) - Unknown - likely benign g.193332733G>A - OPA1(NM_130837.2):c.254G>A (p.R85H) - OPA1_000589 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.262_263delinsC r.(?) p.(Phe88Leufs*6) - Parent #1 - pathogenic (dominant) g.193332741_193332742delinsC g.193614952_193614953delinsC - - 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 r.(?) p.(Trp89*) Basic (exons 1-3) Unknown - pathogenic 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
+?/. - c.275G>C r.(?) p.(Arg92Thr) - Parent #1 - likely pathogenic g.193332754G>C g.193614965G>C - - OPA1_000613 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - 0 - DNA SEQ-NG - WES retinal disease HM864 PubMed: Sun 2015 proband - - China - - 0 - - 1 -
+/+? 2 c.284C>T r.(?) p.(Thr95Met) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
?/. - c.284C>T r.(?) p.(Thr95Met) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3) Unknown - 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 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - F - France - - 0 - - 1 Bastien Le Roux
-/-? 2 c.321G>A r.(?) p.(=) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - ? - PubMed: Pesch 2001 - - - - - - 0 - - 1 Marc Ferre
-?/-? 2 c.321G>A r.(?) p.(=) Basic (exons 1-3) Unknown - 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 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+/+? 2 c.344C>T r.(?) p.(Ala115Val) Basic (exons 1-3) Unknown - 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 - DNA SEQ Blood - OPA - PubMed: Yu-Wai-Man 2010 - - - Italy - - 0 - - 1 Marc Ferre
+/+? - c.344C>T r.(?) p.(Ala115Val) - Parent #1 - 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 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
?/. - c.344C>T r.(?) p.(Ala115Val) - Parent #1 - VUS g.193332823C>T g.193615034C>T - - OPA1_000253 - PubMed: Comander 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat42 PubMed: Comander 2017 - F - United States - - 0 - - 1 Johan den Dunnen
?/. 3 c.356T>C r.(?) p.(Phe119Ser) Basic Both (homozygous) ACMG VUS g.193333467T>C g.193615678T>C - - OPA1_000605 - - - - Germline - - - 0 - DNA SEQ Blood - OPA - - - M ? China Asian - - - - 1 Xingyu Xu
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