Full data view for gene OPA1

Mitodyn.org logo
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
 
Information The variants shown are described using the transcript reference sequence.

1166 entries on 12 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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.(2166+1_2167-1)_(2275+1_2276_1)del r.? p.? - Parent #1 - pathogenic g.(193375022_193376675)_(193376785_193377270)del - - - OPA1_000521 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ Blood - OPA A676 PubMed: Chen 2014 - M - - - - 0 - - 1 Thomas Foulonneau
+/. _1_27i c.-234_(2818+1_2819-1){0} r.0? p.(0?) - Unknown - pathogenic (dominant) g.(?_193310933)_(193385070_193409851)del g.(?_193593144)_(193667281_193692062)del del ex1-27 - OPA1_000268 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_5i c.-234_(624+1_625-1){0} r.0? p.(0?) - Unknown - pathogenic (dominant) g.(?_193310933)_(193336726_193349400)del g.(?_193593144)_(193618937_193631611)del del ex1-5 - OPA1_000690 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+/. _1_29 c.-234_*3211{0} r.0 p.0 - Unknown - pathogenic (dominant) g.(?_193310933)_(193415600_?)del g.(?_193593144)_(193697811_?)del del entire gene c.(?_-1)_(*3211_?)del - OPA1_000691 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.-277C>T r.(?) p.(=) - Parent #1 - VUS g.193310890C>T g.193593101C>T - - OPA1_000394 - - - rs181230813 Germline - - - 0 - DNA SEQ - - OPA - - - - - Germany - - 0 - - 1 Andreas Laner
+/+? - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.(?_-1)_(624+1_625-1)del r.0? p.0? - 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
./. - c.(?_-1)_(*3211_?)del r.0? p.0? - 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
./. - c.(1847+1_1848-1)_(2355 +1_2356-1)dup r.? p.? - Unknown - likely pathogenic g.(193366661_193372650)_(193377351_193380610)dup - 2013-?_2520+?dup - OPA1_000355 - Simmonds JH, Charlton RS (unpublished) - - Germline - - - 0 - DNA MLPA - - OPA - Simmonds JH, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
+?/. 19i_29_ c.(1847+1_1848-1)_*3211{0} r.(?) p.(0?) - Unknown ACMG likely pathogenic (recessive) g.(193366661_193372650)_(193415600)?del - del ex20_29 - OPA1_000617 ACMG PVS1, PM2 PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - Germany - - 0 - - 1 Nicole Weisschuh
+/. _1_27i c.-234_(2818+1_2819-1){0} r.0? p.0? - 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_29_ 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_29_ 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_29_ 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_29_ 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_29_ 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_29_ 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_29_ 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
+/. 1 c.[-234_32+343{1};32+628_32+1734del] r.0? p.0? - Unknown - pathogenic (dominant) g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del] g.[193592722_193592815del;193592816_193593752inv;193594037_193595143del] g.193310511_193312933delins193310603_193311825[193310603_193310540inv] inversion ex1 OPA1_000688 2.4 kb structural variant comprising a 937bp inversion of exon 1 and two flanking deletions PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline/De novo (untested) - - - 0 - DNA PCR, SEQ - WGS OPA patient PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 2 generation family, 1 affected, unaffected parents/relatives M - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.1A>T r.(?) p.(Met1?) - Unknown - pathogenic g.193311167A>T g.193593378A>T - - OPA1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3G>A r.(?) p.(Met1?) - 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
+?/. - c.3G>A r.? p.? - Unknown - likely pathogenic g.193311169G>A g.193593380G>A OPA1 c.3G>A - OPA1_000348 no protein change given, heterozygous PubMed: Zanolli 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood targeted sequencing retinal disease 77 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - 1 LOVD
./. - c.3G>T r.(?) p.(Met1?) - 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
+/. - c.3G>T r.? p.? - Parent #1 - pathogenic (dominant) g.193311169G>T - - - OPA1_000328 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - neuropathy, optic - Patrizia AMATI-BONNEAU and Pascal REYNIER, Angers (France), 2022-08-30 - M - (France) - - 0 - - 1 Marc Ferre
./. - c.6G>A r.(?) p.(Trp2*) - 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.6G>A r.(?) p.(Trp2Ter) - Unknown - pathogenic (dominant) g.193311172G>A g.193593383G>A - - OPA1_000087 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 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, OPA1 - - - 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
./. - c.22G>T r.(?) p.(Ala8Ser) - 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
?/. - 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
./. - c.32+87del r.(?) p.(=) - 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
./. - c.32+97G>A r.(?) p.(=) - 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
./. - c.(32+1_33-1)_(448+1_449-1)del r.spl p.? - 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
./. - c.(32+1_33-1)_(2818+1_2819-1)dup r.? p.? - 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
./. - c.43C>A r.(?) p.(Gln15Lys) - 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.50del r.(?) p.(Leu17*) - Unknown ACMG likely pathogenic (recessive) g.193332529del g.193614740del - - OPA1_000616 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA1 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Nicole Weisschuh
+/+? - 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
+?/. - c.53_62del r.(?) p.(Val18Alafs*4) - Unknown - likely pathogenic g.193332532_193332541del g.193614743_193614752del OPA1 c.53_62delTGAAACACAG, p.Val18fs - OPA1_000678 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, PubMed: Dockery 2017 - - Germline yes - - 0 - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 16 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - 0 - - 1 LOVD
-?/. 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 - OPA1 - - - - ? China Asian - - - - 1 Xingyu Xu
./. - c.70A>G r.(?) p.(Ile24Val) - 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.73A>T r.(?) p.(Lys25*) - Unknown ACMG likely pathogenic g.193332552A>T g.193614763A>T - - OPA1_000586 ACMG grading: PVS1,PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
+?/. - c.86del r.(?) p.(Pro29HisfsTer20) - Unknown ACMG likely pathogenic (recessive) g.193332565del g.193614776del - - OPA1_000618 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - Germany - - 0 - - 1 Nicole Weisschuh
-?/. - 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
+/. - c.91C>T r.(?) p.(Gln31*) - Parent #1 - likely pathogenic (dominant) g.193332570C>T - - - OPA1_000438 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG - - neuropathy, optic - Patrizia AMATI-BONNEAU and Pascal REYNIER, Angers (France), 2022-08-30 - M - (France) - - 0 - - 1 Marc Ferre
./. - c.112C>T r.(?) p.(Arg38*) - 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 - OPA1 - - - M - China Asian - - - - 1 Xingyu Xu
+/. - c.112C>T r.(?) p.(Arg38*) - Parent #1 - pathogenic (dominant) g.193332591C>T - - - OPA1_000236 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG - - neuropathy, optic - Patrizia AMATI-BONNEAU and Pascal REYNIER, Angers (France), 2022-08-30 - M - (France) - - 0 - - 1 Marc Ferre
+/. 2 c.112C>T r.(?) p.(Arg38Ter) - Unknown - pathogenic (dominant) g.193332591C>T g.193614802C>T - - OPA1_000236 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - Unknown - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - DNA SEQ-NG - - SPG18 - - - - - - - - 0 - - 1 Erik-Jan Kamsteeg
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - 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
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - 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
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - 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
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - 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) - 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, OPA1 - - - 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
./. - c.154C>T r.(?) p.(Arg52*) - 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.154C>T r.(?) p.(Arg52Ter) - Unknown - pathogenic (dominant) g.193332633C>T g.193614844C>T - - OPA1_000166 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 4/278 case families - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.154C>T r.(?) p.(Arg52Ter) - Unknown - pathogenic (dominant) g.193332633C>T g.193614844C>T - - OPA1_000166 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 4/278 case families - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.154C>T r.(?) p.(Arg52Ter) - Unknown - pathogenic (dominant) g.193332633C>T g.193614844C>T - - OPA1_000166 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 4/278 case families - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.154C>T r.(?) p.(Arg52Ter) - Unknown - pathogenic (dominant) g.193332633C>T g.193614844C>T - - OPA1_000166 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 4/278 case families - 0 - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - 0 - - 1 Johan den Dunnen
./. - c.181C>T r.(?) p.(Gln61*) - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.190del r.(?) p.(Ser64Leufs*2) - 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
+/+? - 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, OPA1 - - - 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, OPA1 - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - 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 - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? - 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, OPA1 - - - M - (United Arab Emirates) - - 0 - - 1 Marc Ferre
./. - c.267G>A r.(?) p.(Trp89*) - 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
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »