List of variants reported as pathogenic for optic atrophy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 174

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HGVS	dbSNP	gnomAD frequency
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00112
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	rs145192716	0.00006
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His)	rs372054380	0.00003
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala)	rs756981921	0.00003
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)	rs375733283	0.00002
NM_001098.3(ACO2):c.2012G>A (p.Arg671Gln)	rs755024692	0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)	rs764791523	0.00001
NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe)	rs755893615	0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	rs912546325	0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)	rs1568413644	0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	rs121434508	0.00001
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter)	rs200457692	0.00001
NM_032730.5(RTN4IP1):c.806+1G>A	rs772984484	0.00001
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NC_012920.1(MT-ATP6):m.8783G>A	rs1603221804
NC_012920.1(MT-ATP6):m.8851T>C	rs199476136
NC_012920.1(MT-ATP6):m.8969G>A	rs794726857
NC_012920.1(MT-ATP6):m.8993T>C	rs199476133
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ATP6):m.9101T>C	rs199476134
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-CO1):m.7444G>A	rs199474822
NC_012920.1(MT-CO3):m.9205_9206del	rs199476137
NC_012920.1(MT-CO3):m.9438G>A	rs267606611
NC_012920.1(MT-CO3):m.9804G>A	rs200613617
NC_012920.1(MT-CYB):m.15150G>A	rs207460000
NC_012920.1(MT-CYB):m.15257G>A	rs41518645
NC_012920.1(MT-CYB):m.15579A>G	rs207460002
NC_012920.1(MT-CYB):m.15812G>A	rs200336777
NC_012920.1(MT-ND1):m.3394T>C	rs41460449
NC_012920.1(MT-ND1):m.3460G>A	rs199476118
NC_012920.1(MT-ND1):m.3697G>A	rs199476122
NC_012920.1(MT-ND1):m.3946G>A	rs199476123
NC_012920.1(MT-ND1):m.4136A>G	rs199476121
NC_012920.1(MT-ND1):m.4160T>C	rs199476119
NC_012920.1(MT-ND1):m.4216T>C	rs1599988
NC_012920.1(MT-ND2):m.4640C>A	rs387906426
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-ND4):m.11696G>A	rs200873900
NC_012920.1(MT-ND4):m.11777C>A	rs28384199
NC_012920.1(MT-ND4):m.11778G>A	rs199476112
NC_012920.1(MT-ND5):m.12338T>C	rs201863060
NC_012920.1(MT-ND5):m.12425del	rs1603223730
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	rs267606893
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-ND5):m.13045A>C	rs267606895
NC_012920.1(MT-ND5):m.13051G>A	rs1131692063
NC_012920.1(MT-ND5):m.13063G>A	rs1603224017
NC_012920.1(MT-ND5):m.13094T>C	rs1603224029
NC_012920.1(MT-ND5):m.13708G>A	rs28359178
NC_012920.1(MT-ND5):m.13730G>A	rs387906425
NC_012920.1(MT-ND6):m.14459G>A	rs199476105
NC_012920.1(MT-ND6):m.14482C>A	rs199476108
NC_012920.1(MT-ND6):m.14484T>C	rs199476104
NC_012920.1(MT-ND6):m.14487T>C	rs199476109
NC_012920.1(MT-ND6):m.14596A>T	rs387906424
NC_012920.1:m.9237G>A	rs1057516064
NM_001098.3(ACO2):c.1254dup (p.Gly419fs)
NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter)	rs2146139034
NM_001098.3(ACO2):c.2253dup (p.Ile752fs)	rs2066653512
NM_001098.3(ACO2):c.[1894G>A];[487G>T]
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln)	rs1799652893
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val)	rs1799653139
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)	rs1799747454
NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn)	rs1799915649
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu)	rs1908566777
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	rs1057522195
NM_006796.3(AFG3L2):c.1130T>C (p.Phe377Ser)	rs1908507433
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	rs1908371616
NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile)	rs1908369114
NM_006796.3(AFG3L2):c.1394G>A (p.Arg465Lys)	rs1908309088
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)	rs1020764190
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	rs1908300748
NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]
NM_006796.3(AFG3L2):c.[1814A>G;2375dup]
NM_006796.3(AFG3L2):c.[1901_1902del;916A>G]
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)	rs1064794656
NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu)	rs1555119216
NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala)	rs1555229948
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789
NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp)	rs1057519312
NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)	rs768643552
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	rs753611141
NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp)
NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn)
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C	rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC	rs1969382362
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)	rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)	rs80356525
NM_032730.5(RTN4IP1):c.2T>C (p.Met1Thr)	rs2114691078
NM_032730.5(RTN4IP1):c.432G>A (p.Trp144Ter)	rs755175825
NM_032730.5(RTN4IP1):c.500C>T (p.Ser167Phe)	rs2114677062
NM_032730.5(RTN4IP1):c.962G>A (p.Gly321Glu)	rs145695118
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.1035+5G>A	rs754576717
NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu)	rs28939082
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	rs761460379
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	rs398124303
NM_130837.3(OPA1):c.1150-1G>A	rs879255510
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)	rs104893753
NM_130837.3(OPA1):c.1377+1G>T	rs2109043749
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del)	rs879255511
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)	rs387906899
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)	rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	rs80356529
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)	rs1577244261
NM_130837.3(OPA1):c.1519del (p.Val507fs)	rs879255512
NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
NM_130837.3(OPA1):c.1681+1G>T	rs886041318
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	rs1560377736
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)	rs398124298
NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)	rs879255592
NM_130837.3(OPA1):c.1870+1G>C
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)	rs121908376
NM_130837.3(OPA1):c.1935+1G>C	rs1711518217
NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter)	rs2109138909
NM_130837.3(OPA1):c.2287del (p.Ser763fs)	rs1219753329
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)	rs772382178
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)	rs1577297114
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)	rs1553784985
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
NM_130837.3(OPA1):c.2686del (p.Tyr896fs)	rs2109253558
NM_130837.3(OPA1):c.2714dup (p.Asn906fs)
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2779-9A>G	rs1716524583
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)	rs387906901
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)	rs879255560
NM_130837.3(OPA1):c.2991del (p.Arg998fs)	rs80356531
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)	rs879255513
NM_130837.3(OPA1):c.357del (p.Phe119fs)	rs1728905695
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.556+1G>A	rs1577162868
NM_130837.3(OPA1):c.610+360G>A	rs1553872542
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)	rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)	rs761743852
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)	rs1488795500
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)	rs1555863693
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)	rs557939077
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	rs398122887
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly)	rs797044897
NM_173467.5(MCAT):c.424-2A>G
NM_173467.5(MCAT):c.823G>A (p.Glu275Lys)
NM_173467.5(MCAT):c.[242T>G;634C>T]
m.10663T>C	rs1556423844
m.12848C>T	rs267606899
m.14495A>G	rs199476106
m.14568C>T	rs397515506
m.3635G>A	rs397515507
m.3733G>A	rs199476125
m.4171C>A	rs28616230
m.5244G>A	rs199476115

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