| - GRCh37:
- Chr3:193343827-194599635
| TMEM44, ATP13A3, CPN2, FAM43A, GP5, HES1, LRRC15, LSG1, OPA1 | | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193384125
- GRCh38:
- Chr3:193666336
| OPA1 | R761H, R903H, R849H, R885H, R886H, R940H, R762H, R904H, R922H, R867H | Autosomal dominant optic atrophy classic form, not provided | Uncertain significance
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193384109
- GRCh38:
- Chr3:193666320
| OPA1 | W758fs, W900fs, W936fs, W863fs, W882fs, W918fs, W881fs, W899fs, W757fs, W845fs | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193361239
- GRCh38:
- Chr3:193643450
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193355816
- GRCh38:
- Chr3:193638027
| OPA1 | R192G, R193G, R280G, R298G, R316G, R317G, R334G, R335G, R353G, R371G | Autosomal dominant optic atrophy classic form | Uncertain significance
(Dec 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193382756-193382757
- GRCh38:
- Chr3:193664967-193664968
| OPA1 | Y738*, Y739*, Y826*, Y844*, Y862*, Y863*, Y880*, Y881*, Y899*, Y917* | Autosomal dominant optic atrophy classic form | Pathogenic
(Mar 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:193365877
- GRCh38:
- Chr3:193648088
| OPA1 | E451V, E452V, E539V, E557V, E575V, E576V, E593V, E594V, E612V, E630V | Autosomal dominant optic atrophy classic form | Uncertain significance
(Sep 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:193332547-193332548
- GRCh38:
- Chr3:193614758-193614759
| OPA1 | I24fs | Autosomal dominant optic atrophy classic form | Pathogenic
(Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193332593-193332594
- GRCh38:
- Chr3:193614804-193614805
| OPA1 | S39fs | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193333548
- GRCh38:
- Chr3:193615759
| OPA1 | Y146C, Y22C | not provided, Autosomal dominant optic atrophy classic form | Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193353243
- GRCh38:
- Chr3:193635454
| OPA1 | E115*, E116*, E203*, E221*, E239*, E240*, E257*, E258*, E276*, E294* | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193355778
- GRCh38:
- Chr3:193637989
| OPA1 | S179N, S180N, S267N, S285N, S303N, S304N, S321N, S322N, S340N, S358N | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193409863
- GRCh38:
- Chr3:193692074
| OPA1 | E820*, E821*, E908*, E926*, E944*, E945*, E962*, E963*, E981*, E999* | Autosomal dominant optic atrophy classic form | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193364951
- GRCh38:
- Chr3:193647162
| LOC126806913, OPA1 | Q439*, Q440*, Q527*, Q545*, Q563*, Q564*, Q581*, Q582*, Q600*, Q618* | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193361892-193361904
- GRCh38:
- Chr3:193644103-193644115
| OPA1 | | Autosomal dominant optic atrophy classic form | Pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193361234
- GRCh38:
- Chr3:193643445
| OPA1 | | Autosomal dominant optic atrophy classic form | Pathogenic
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193382691
- GRCh38:
- Chr3:193664902
| OPA1 | Y717fs, Y718fs, Y805fs, Y823fs, Y841fs, Y842fs, Y859fs, Y860fs, Y878fs, Y896fs | Autosomal dominant optic atrophy classic form | Pathogenic
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193333465
- GRCh38:
- Chr3:193615676
| OPA1 | F119fs | Autosomal dominant optic atrophy classic form | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193374983
- GRCh38:
- Chr3:193657194
| OPA1 | K586*, K587*, K674*, K692*, K710*, K711*, K728*, K729*, K747*, K765* | Autosomal dominant optic atrophy classic form | Pathogenic
(Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193372780
- GRCh38:
- Chr3:193654991
| OPA1 | Q535fs, Q536fs, Q623fs, Q641fs, Q659fs, Q660fs, Q677fs, Q678fs, Q696fs, Q714fs | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193409855
- GRCh38:
- Chr3:193692066
| OPA1 | K817T, K818T, K905T, K923T, K941T, K942T, K959T, K960T, K978T, K996T | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193365877-193365878
- GRCh38:
- Chr3:193648088-193648089
| OPA1 | E451fs, E452fs, E539fs, E557fs, E575fs, E576fs, E593fs, E594fs, E612fs, E630fs | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193353248
- GRCh38:
- Chr3:193635459
| OPA1 | N116K, N117K, N204K, N222K, N240K, N241K, N258K, N259K, N277K, N295K | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193332641-193332642
- GRCh38:
- Chr3:193614852-193614853
| OPA1 | L55fs | Autosomal dominant optic atrophy classic form | Likely pathogenic
(Jan 19, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr3:193374949-193374954
- GRCh38:
- Chr3:193657160-193657165
| OPA1 | | Inborn genetic diseases, not provided, Autosomal dominant optic atrophy classic form
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193355857
- GRCh38:
- Chr3:193638068
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr3:193353265
- GRCh38:
- Chr3:193635476
| OPA1 | L122*, L123*, L210*, L228*, L246*, L247*, L264*, L265*, L283*, L301* | Autosomal dominant optic atrophy classic form, not provided | Pathogenic
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193363563-193363564
- GRCh38:
- Chr3:193645774-193645775
| OPA1 | Q400fs, Q401fs, Q488fs, Q506fs, Q524fs, Q525fs, Q542fs, Q543fs, Q561fs, Q579fs | Autosomal dominant optic atrophy classic form | Pathogenic
(Jul 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193374975
- GRCh38:
- Chr3:193657186
| OPA1 | S584fs, S585fs, S672fs, S690fs, S708fs, S709fs, S726fs, S727fs, S745fs, S763fs | Abortive cerebellar ataxia, Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, Autosomal dominant optic atrophy classic form,
not provided | Pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193365924
- GRCh38:
- Chr3:193648135
| OPA1 | | not provided, Autosomal dominant optic atrophy classic form | Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193413003
- GRCh38:
- Chr3:193695214
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193412816
- GRCh38:
- Chr3:193695027
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193412792
- GRCh38:
- Chr3:193695003
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193412730
- GRCh38:
- Chr3:193694941
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193361877
- GRCh38:
- Chr3:193644088
| OPA1 | V476I, V494I, V495I, V477I, V513I, V352I, V353I, V440I, V458I, V531I | not provided, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193360819
- GRCh38:
- Chr3:193643030
| OPA1 | G250D, G393D, G251D, G338D, G356D, G429D, G375D, G392D, G374D, G411D | not provided, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193311164
- GRCh38:
- Chr3:193593375
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193311023
- GRCh38:
- Chr3:193593234
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193310995
- GRCh38:
- Chr3:193593206
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193310985
- GRCh38:
- Chr3:193593196
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414623
- GRCh38:
- Chr3:193696834
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414559
- GRCh38:
- Chr3:193696770
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414309
- GRCh38:
- Chr3:193696520
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414273
- GRCh38:
- Chr3:193696484
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193412617
- GRCh38:
- Chr3:193694828
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193409884
- GRCh38:
- Chr3:193692095
| OPA1 | A933T, A988T, A1006T, A952T, A969T, A828T, A970T, A827T, A915T, A951T | not provided, Autosomal dominant optic atrophy classic form | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193355020
- GRCh38:
- Chr3:193637231
| OPA1 | V256I, V292I, V293I, V274I, V311I, V150I, V151I, V329I, V238I, V275I | not provided, Autosomal dominant optic atrophy classic form | Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193353214
- GRCh38:
- Chr3:193635425
| OPA1 | Y229C, Y105C, Y106C, Y248C, Y193C, Y211C, Y230C, Y247C, Y266C, Y284C | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193413970
- GRCh38:
- Chr3:193696181
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193413655
- GRCh38:
- Chr3:193695866
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193413520
- GRCh38:
- Chr3:193695731
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193336738
- GRCh38:
- Chr3:193618949
| OPA1, OPA1-AS1 | | Autosomal dominant optic atrophy classic form, not provided | Benign
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193336664
- GRCh38:
- Chr3:193618875
| OPA1, OPA1-AS1 | P206L, P152L, P28L, P64L, P170L, P188L | Autosomal dominant optic atrophy classic form, not provided | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193335076
- GRCh38:
- Chr3:193617287
| OPA1 | | Autosomal dominant optic atrophy classic form, not provided | Conflicting interpretations of pathogenicity
(May 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193415291
- GRCh38:
- Chr3:193697502
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415250
- GRCh38:
- Chr3:193697461
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415228
- GRCh38:
- Chr3:193697439
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415190
- GRCh38:
- Chr3:193697401
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193413428
- GRCh38:
- Chr3:193695639
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193413132
- GRCh38:
- Chr3:193695343
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193380621
- GRCh38:
- Chr3:193662832
| OPA1 | N826S, N789S, N665S, N666S, N771S, N790S, N807S, N753S, N808S, N844S | not provided, Inborn genetic diseases, Autosomal dominant optic atrophy classic form
| Conflicting interpretations of pathogenicity
(Mar 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193364938
- GRCh38:
- Chr3:193647149
| LOC126806913, OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193384076
- GRCh38:
- Chr3:193666287
| OPA1 | | Autosomal dominant optic atrophy classic form, not provided | Pathogenic/Likely pathogenic
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193332591
- GRCh38:
- Chr3:193614802
| OPA1 | R38* | Retinal dystrophy, not provided, Autosomal dominant optic atrophy classic form
| Pathogenic/Likely pathogenic
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193385075
- GRCh38:
- Chr3:193667286
| OPA1 | | not provided, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(May 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193375004-193375005
- GRCh38:
- Chr3:193657215-193657216
| OPA1 | F593fs, F699fs, F754fs, F772fs, F717fs, F718fs, F736fs, F594fs, F681fs, F735fs | Autosomal dominant optic atrophy classic form | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193361797
- GRCh38:
- Chr3:193644008
| OPA1 | T326R, T450R, T486R, T468R, T325R, T413R, T467R, T504R, T431R, T449R | Autosomal dominant optic atrophy classic form, not provided | Pathogenic
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193361393
- GRCh38:
- Chr3:193643604
| OPA1 | N412I, N307I, N485I, N394I, N430I, N431I, N467I, N306I, N448I, N449I | Autosomal dominant optic atrophy classic form | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193360821
- GRCh38:
- Chr3:193643032
| OPA1 | C252G, C357G, C393G, C412G, C251G, C376G, C394G, C430G, C339G, C375G | Autosomal dominant optic atrophy classic form | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193355756
- GRCh38:
- Chr3:193637967
| OPA1 | D278H, D333H, D172H, D173H, D260H, D297H, D314H, D315H, D296H, D351H | Neurodevelopmental disorder, Autosomal dominant optic atrophy classic form | Pathogenic/Likely pathogenic
(Dec 7, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193332718
- GRCh38:
- Chr3:193614929
| OPA1 | Y80C | not provided, Autosomal dominant optic atrophy classic form, not specified
| Benign/Likely benign
(Aug 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193355051
- GRCh38:
- Chr3:193637262
| OPA1 | T284M, T339M, T321M, T160M, T248M, T302M, T266M, T161M, T285M, T303M | Autosomal dominant optic atrophy classic form, not provided | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193311212
- GRCh38:
- Chr3:193593423
| OPA1 | | not provided, not specified, Autosomal dominant optic atrophy classic form
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193355741
- GRCh38:
- Chr3:193637952
| OPA1 | V291L, V346L, V273L, V292L, V309L, V310L, V168L, V255L, V167L, V328L | not provided | Likely pathogenic
(Jan 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193380707
- GRCh38:
- Chr3:193662918
| OPA1 | R818W, R873W, R782W, R800W, R837W, R855W, R695W, R819W, R694W, R836W | Glaucoma, normal tension, susceptibility to, Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, Abortive cerebellar ataxia,
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Autosomal dominant optic atrophy classic form, not provided
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193376773
- GRCh38:
- Chr3:193658984
| OPA1 | R755H, R810H, R631H, R632H, R719H, R774H, R756H, R792H, R737H, R773H | Glaucoma, normal tension, susceptibility to, Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, Abortive cerebellar ataxia,
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Autosomal dominant optic atrophy classic form, not provided,
Inborn genetic diseases | Uncertain significance
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193355075
- GRCh38:
- Chr3:193637286
| OPA1 | | not provided, Autosomal dominant optic atrophy classic form | Pathogenic/Likely pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193385048
- GRCh38:
- Chr3:193667259
| OPA1 | V933I, V988I, V970I, V810I, V915I, V952I, V809I, V934I, V897I, V951I | not specified, not provided, Autosomal dominant optic atrophy classic form
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193385059
- GRCh38:
- Chr3:193667270
| OPA1 | | not specified, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193380682
- GRCh38:
- Chr3:193662893
| OPA1 | | not provided, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193354973
- GRCh38:
- Chr3:193637184
| OPA1 | | not provided, Autosomal dominant optic atrophy classic form | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193311157
- GRCh38:
- Chr3:193593368
| OPA1 | | not specified, Autosomal dominant optic atrophy classic form | Conflicting interpretations of pathogenicity
(Apr 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:193360639
- GRCh38:
- Chr3:193642850
| OPA1 | | Autosomal dominant optic atrophy classic form, not provided | Likely pathogenic
(Jan 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:193415536
- GRCh38:
- Chr3:193697747
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415416
- GRCh38:
- Chr3:193697627
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415382
- GRCh38:
- Chr3:193697593
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415298
- GRCh38:
- Chr3:193697509
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415262
- GRCh38:
- Chr3:193697473
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415083
- GRCh38:
- Chr3:193697294
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193415081
- GRCh38:
- Chr3:193697292
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414805
- GRCh38:
- Chr3:193697016
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414797
- GRCh38:
- Chr3:193697008
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414780
- GRCh38:
- Chr3:193696991
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414733
- GRCh38:
- Chr3:193696944
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414675
- GRCh38:
- Chr3:193696886
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414672
- GRCh38:
- Chr3:193696883
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414630
- GRCh38:
- Chr3:193696841
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414545
- GRCh38:
- Chr3:193696756
| OPA1 | | Autosomal dominant optic atrophy classic form | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414504
- GRCh38:
- Chr3:193696715
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:193414481
- GRCh38:
- Chr3:193696692
| OPA1 | | Autosomal dominant optic atrophy classic form | Benign
(Jan 13, 2018) | criteria provided, single submitter |