NM_025136.4(OPA3):c.143-1G>CPathogenic
3-Methylglutaconic aciduria type 3|Optic atrophy 3;3-Methylglutaconic aciduria type 3|not provided
β
β
ββ2026
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)Pathogenic
Optic atrophy 3|Optic atrophy 3;3-Methylglutaconic aciduria type 3|not provided|3-Methylglutaconic aciduria type 3
β
β
ββ2025β Residue 105
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)Pathogenic
not provided|3-Methylglutaconic aciduria type 3|Optic atrophy 3;3-Methylglutaconic aciduria type 3
β
β
ββ2025β Residue 18
NM_025136.4(OPA3):c.1A>G (p.Met1Val)Likely pathogenic
Optic atrophy 3;3-Methylglutaconic aciduria type 3|3-Methylglutaconic aciduria type 3
β
β
ββ2025β Residue 1
NM_025136.4(OPA3):c.194del (p.Gly65fs)Likely pathogenic
not provided|3-Methylglutaconic aciduria type 3
β
β
ββ2024β Residue 65
NM_025136.4(OPA3):c.143-1G>APathogenic
3-Methylglutaconic aciduria type 3|3-Methylglutaconic aciduria type 3;Optic atrophy 3
β
β
ββ2023
NM_025136.4(OPA3):c.13_20del (p.Ala5fs)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2025β Residue 5
NM_025136.4(OPA3):c.142+2_142+3dupLikely pathogenic
3-Methylglutaconic aciduria type 3;Optic atrophy 3
β
βββ2025
NM_025136.4(OPA3):c.140A>G (p.Gln47Arg)Likely pathogenic
3-Methylglutaconic aciduria type 3;Optic atrophy 3
β
βββ2025β Residue 47
NM_025136.4(OPA3):c.458_459del (p.Arg153fs)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 153
NM_025136.4(OPA3):c.472_494del (p.Glu158fs)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 158
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)Likely pathogenic
3-Methylglutaconic aciduria type 3;Optic atrophy 3
β
βββ2024β Residue 51
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)Likely pathogenic
3-Methylglutaconic aciduria type 3|Optic atrophy 3;3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 105
NC_000019.10:g.45529163G>ALikely pathogenic
3-Methylglutaconic aciduria type 3|Optic atrophy 3;3-Methylglutaconic aciduria type 3
β
βββ2024
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 85
NM_025136.4(OPA3):c.318_319dup (p.Gln107fs)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 107
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 73
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)Likely pathogenic
Optic atrophy 3;3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 103
NM_025136.4(OPA3):c.39C>G (p.Tyr13Ter)Pathogenic
3-Methylglutaconic aciduria type 3;Optic atrophy 3
β
βββ2024β Residue 13
NM_025136.4(OPA3):c.82_84delinsT (p.Ile27_Lys28insTer)Likely pathogenic
3-Methylglutaconic aciduria type 3
β
βββ2024β Residue 27