| Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_130833.2(OPA1):c.1149A>G (p.Ile383Met) | 4976 | OPA1 | Pathogenic;Uncertain significance | 143319805 | RCV000043607; RCV000043608; RCV000081747; RCV000198140; RCV000210748; | N | MedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN169374; MedGen:CN221809 | 3 | 193361167 | 193361167 | NM_130833.2:c.1149A>G | NP_570846.1:p.Ile383Met | | HGMD:CM080464,OMIM Allelic Variant:605290.0018 | C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; CN169374 not specified; C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) | 4976 | OPA1 | Pathogenic | 387906899 | RCV000023414; | N | MedGen:C1852267,OMIM:125250 | 3 | 193361398 | 193361398 | NM_015560.2:c.1294A>G | NP_056375.2:p.Ile432Val | NC_000003.11:g.193361398A>G | OMIM Allelic Variant:605290.0014 | C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) | 4976 | OPA1 | Pathogenic | 387906900 | RCV000023416; | N | MedGen:C1852267,OMIM:125250 | 3 | 193361767 | 193361767 | NM_015560.2:c.1316G>T | NP_056375.2:p.Gly439Val | NC_000003.11:g.193361767G>T | OMIM Allelic Variant:605290.0016 | C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.1334G>A (p.Arg445His) | 4976 | OPA1 | Pathogenic | 80356529 | RCV000174780; RCV000005396; RCV000081749; | N | MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN221809 | 3 | 193361785 | 193361785 | NM_015560.2:c.1334G>A | NP_056375.2:p.Arg445His | NC_000003.11:g.193361785G>A | HGMD:CM030379,OMIM Allelic Variant:605290.0011 | C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.1346delC (p.Thr449Lysfs) | 4976 | OPA1 | Likely pathogenic | 794729196 | RCV000184014; | N | MedGen:C1852267,OMIM:125250 | 3 | 193361797 | 193361797 | NM_015560.2:c.1346delC | NP_056375.2:p.Thr449Lysfs | NC_000003.11:g.193361797delC | - | C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) | 4976 | OPA1 | Pathogenic | 121908376 | RCV000005395; | N | MedGen:C1852267,OMIM:125250 | 3 | 193365898 | 193365898 | NM_015560.2:c.1745A>G | NP_056375.2:p.Tyr582Cys | NC_000003.11:g.193365898A>G | OMIM Allelic Variant:605290.0013 | C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs) | 4976 | OPA1 | Pathogenic | 80356530 | RCV000005387; RCV000043606; RCV000081763; RCV000210745; | N | MedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN221809 | 3 | 193384959 | 193384962 | NM_015560.2:c.2708_2711delTTAG | NP_056375.2:p.Val903Glyfs | NC_000003.11:g.193384959_193384962delTTAG | HGMD:CD002708,OMIM Allelic Variant:605290.0003 | C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; C1852267 125250 Optic Atrophy Type 1 | | |
| NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) | 4976 | OPA1 | Pathogenic | 387906901 | RCV000023417; | N | MedGen:C1852267,OMIM:125250 | 3 | 193384980 | 193384980 | NM_015560.2:c.2729T>A | NP_056375.2:p.Val910Asp | NC_000003.11:g.193384980T>A | OMIM Allelic Variant:605290.0017 | C1852267 125250 Optic Atrophy Type 1 | | |
Optic atrophy 1 and deafness 
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