Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_015560.2(OPA1):c.-182C>A | 4976 | OPA1 | Uncertain significance | 532165115 | RCV001150415; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193310985 | 193310985 | | | 3:g.193310985C>A | - | | |
NM_015560.2(OPA1):c.-172T>A | 4976 | OPA1 | Benign | 146295726 | RCV001150416; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193310995 | 193310995 | | | 3:g.193310995T>A | - | | |
NM_130837.3(OPA1):c.-144T>C | 4976 | OPA1 | Uncertain significance | 1057509207 | RCV001150417; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193311023 | 193311023 | | | 3:g.193311023T>C | - | | |
NM_130837.3(OPA1):c.-102G>A | 4976 | OPA1 | Uncertain significance | 886058255 | RCV000328132; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193311065 | 193311065 | | | NC_000003.11:g.193311065G>A | ClinGen:CA10615439 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.-10C>T | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 775614028 | RCV000432407|RCV001150418; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193311157 | 193311157 | | | 3:g.193311157C>T | ClinGen:CA2758884 | CN169374 not specified; | |
NM_130837.3(OPA1):c.-8C>T | 4976 | OPA1 | Uncertain significance | 371988066 | RCV000387335; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193311159 | 193311159 | | | NC_000003.11:g.193311159C>T | ClinGen:CA2758886 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.-3G>A | 4976 | OPA1 | Uncertain significance | 964787052 | RCV001150419; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193311164 | 193311164 | | | 3:g.193311164G>A | - | | |
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) | 4976 | OPA1 | Uncertain significance | 794726939 | RCV000173452|RCV000723425; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193311188 | 193311188 | | | 3:g.193311188G>T | ClinGen:CA274916,UniProtKB:O60313#VAR_060825 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.32+14C>T | 4976 | OPA1 | Benign/Likely benign | 201927764 | RCV000612148|RCV001150420|RCV002063278; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193311212 | 193311212 | | | 3:g.193311212C>T | ClinGen:CA2758889 | CN169374 not specified; | |
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) | 4976 | OPA1 | Benign | 75414918 | RCV000081767|RCV000295836|RCV000710167|RCV001787895|RCV001787894|RCV001787893; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 | 3 | 193332522 | 193332522 | | | 3:g.193332522C>A | ClinGen:CA285728 | CN169374 not specified; | |
NM_130837.3(OPA1):c.70dup (p.Ile24fs) | 4976 | OPA1 | Pathogenic | -1 | RCV002290233; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332547 | 193332548 | | | 193332547 | - | | |
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 201520438 | RCV000332084|RCV000488273; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193332549 | 193332549 | | | NC_000003.11:g.193332549A>G | ClinGen:CA321129 | CN517202 not provided; | |
NM_130837.3(OPA1):c.88C>T (p.Leu30=) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 185976555 | RCV000198587|RCV000998191|RCV001144334; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332567 | 193332567 | | | 3:g.193332567C>T | ClinGen:CA323113 | CN169374 not specified; | |
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs) | 4976 | OPA1 | Likely pathogenic | -1 | RCV002290155; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332593 | 193332594 | | | 193332593 | - | | |
NM_130837.3(OPA1):c.164dup (p.Leu55fs) | 4976 | OPA1 | Likely pathogenic | 1728771454 | RCV001291943; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332641 | 193332642 | | | 193332641 | - | | |
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) | 4976 | OPA1 | Benign/Likely benign | 151103940 | RCV000731858|RCV000903690|RCV000987376; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332718 | 193332718 | | | NC_000003.11:g.193332718A>G | - | | |
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 372435892 | RCV000372840|RCV000914591; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193332732 | 193332732 | | | NC_000003.11:g.193332732C>T | ClinGen:CA2758961 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.254G>A (p.Arg85His) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 35630194 | RCV000081761|RCV000278316|RCV001509225|RCV002513835; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 3 | 193332733 | 193332733 | | | 3:g.193332733G>A | ClinGen:CA148772 | CN169374 not specified; | |
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 371943668 | RCV001987873|RCV003389505; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193332780 | 193332780 | | | 193332780 | - | | |
NM_130837.3(OPA1):c.321G>A (p.Ser107=) | 4976 | OPA1 | Benign | 117888848 | RCV000081765|RCV000337795|RCV000712466|RCV001787891|RCV001787892|RCV001787890; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 | 3 | 193332800 | 193332800 | | | 3:g.193332800G>A | ClinGen:CA148777 | CN169374 not specified; | |
NM_130837.3(OPA1):c.339C>T (p.Tyr113=) | 4976 | OPA1 | Likely benign | 779836454 | RCV000394495|RCV000911638; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193332818 | 193332818 | | | NC_000003.11:g.193332818C>T | ClinGen:CA2758983 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.357del (p.Phe119fs) | 4976 | OPA1 | Pathogenic | 1728905695 | RCV002052147; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193333465 | 193333465 | | | 193333464 | - | | |
NM_130837.3(OPA1):c.420G>T (p.Val140=) | 4976 | OPA1 | Benign | 35801538 | RCV000081766|RCV000284097|RCV000676691; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193333531 | 193333531 | | | 3:g.193333531G>T | ClinGen:CA285723 | CN517202 not provided; | |
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys) | 4976 | OPA1 | Uncertain significance | -1 | RCV002289380|RCV003101668; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193333548 | 193333548 | | | 193333548 | - | | |
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) | 4976 | OPA1 | Benign | 7624750 | RCV000081768|RCV000676692|RCV000987377; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193334991 | 193334991 | | | 3:g.193334991G>A | ClinGen:CA285733,UniProtKB:O60313#VAR_022924 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 150279202 | RCV000197961|RCV000400476; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193335048 | 193335048 | | | 3:g.193335048G>T | ClinGen:CA322427 | CN169374 not specified; | |
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu) | 4976 | OPA1 | Likely benign | 769335936 | RCV000304297; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193335062 | 193335062 | | | NC_000003.11:g.193335062T>C | ClinGen:CA2759041 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.556+2T>G | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 762390227 | RCV001146232|RCV002557132; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193335076 | 193335076 | | | 3:g.193335076T>G | - | | |
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 772090345 | RCV001146233|RCV001566180; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193336664 | 193336664 | | | 3:g.193336664C>T | - | | |
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) | 4976 | OPA1 | Benign | 34307082 | RCV000081770|RCV000363524|RCV000676693; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193336676 | 193336676 | | | 3:g.193336676C>T | ClinGen:CA285739,UniProtKB:O60313#VAR_022926 | CN517202 not provided; | |
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 200243596 | RCV000390873|RCV000489535|RCV000765718; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0011693,MedGen:C1847730,OMIM:606657; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0014 | 3 | 193336700 | 193336700 | | | NC_000003.11:g.193336700C>T | ClinGen:CA2759090 | CN169374 not specified; | |
NM_130837.3(OPA1):c.678+13G>C | 4976 | OPA1 | Benign | 561115644 | RCV001146234|RCV002070772; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193336738 | 193336738 | | | 3:g.193336738G>C | - | | |
GRCh37/hg19 3q29(chr3:193343827-194599635)x1 | 4976 | OPA1 | Likely pathogenic | -1 | RCV003329547; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193343827 | 194599635 | | | | - | | |
NM_130837.3(OPA1):c.740G>A (p.Arg247His) | 4976 | OPA1 | Uncertain significance | 138350727 | RCV000055988|RCV000657875; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193343942 | 193343942 | | | 3:g.193343942G>A | ClinGen:CA345078 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.790-4T>A | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 374509936 | RCV000153618|RCV001149026; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193349397 | 193349397 | | | 3:g.193349397T>A | ClinGen:CA234459 | CN169374 not specified; | |
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) | 4976 | OPA1 | Pathogenic | 794727804 | RCV000623100|RCV000517030|RCV002288784|RCV003389462; | N | MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0019353,MedGen:C0271093, Orphanet:827 | 3 | 193349410 | 193349411 | | | 3:g.193349410_193349411del | ClinGen:CA275351 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys) | 4976 | OPA1 | Uncertain significance | 760177302 | RCV001149027; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193353214 | 193353214 | | | 3:g.193353214A>G | - | | |
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter) | 4976 | OPA1 | Likely pathogenic | -1 | RCV002289336; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193353243 | 193353243 | | | 193353243 | - | | |
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys) | 4976 | OPA1 | Likely pathogenic | 750185470 | RCV001647169; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193353248 | 193353248 | | | 193353248 | - | | |
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) | 4976 | OPA1 | not provided | 863225274 | RCV000201902; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193353256 | 193353256 | | | 3:g.193353256T>A | ClinGen:CA347681 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) | 4976 | OPA1 | Pathogenic | 1488795500 | RCV001253178|RCV002570526; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193353265 | 193353265 | | | 3:g.193353265T>G | - | | |
NM_130837.3(OPA1):c.949-11A>C | 4976 | OPA1 | Benign/Likely benign | 376681712 | RCV001149028|RCV001703481; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193354973 | 193354973 | | | 3:g.193354973A>C | ClinGen:CA2759226 | CN169374 not specified; | |
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) | 4976 | OPA1 | Uncertain significance | 1347426414 | RCV001149029|RCV002557204; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193355020 | 193355020 | | | 3:g.193355020G>A | - | | |
NM_130837.3(OPA1):c.990C>T (p.Leu330=) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 201242590 | RCV000310228|RCV002057873; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193355025 | 193355025 | | | NC_000003.11:g.193355025C>T | ClinGen:CA2759230 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) | 4976 | OPA1 | Uncertain significance | 141326740 | RCV000712469|RCV001332089; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355051 | 193355051 | | | NC_000003.11:g.193355051C>T | - | | |
NM_130837.3(OPA1):c.1017G>A (p.Thr339=) | 4976 | OPA1 | Likely benign | 758922394 | RCV000364856|RCV002057874; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193355052 | 193355052 | | | NC_000003.11:g.193355052G>A | ClinGen:CA2759234 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) | 4976 | OPA1 | Pathogenic/Likely pathogenic | 121908375 | RCV000005389|RCV000790668|RCV001336297; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 | 3 | 193355069 | 193355069 | | | 3:g.193355069G>A | ClinGen:CA223219,UniProtKB:O60313#VAR_011483,OMIM:605290.0005 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1035+4T>C | 4976 | OPA1 | Benign | 166850 | RCV000081773|RCV000576690|RCV000676694|RCV001787898|RCV001787896|RCV001787897; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239 | 3 | 193355074 | 193355074 | | | 3:g.193355074T>C | ClinGen:CA285744 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1035+5G>A | 4976 | OPA1 | Pathogenic/Likely pathogenic | 754576717 | RCV000498640|RCV000678587; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355075 | 193355075 | | | 3:g.193355075G>A | ClinGen:CA2759236 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1036-9T>C | 4976 | OPA1 | Uncertain significance | 531187028 | RCV000330155; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355732 | 193355732 | | | NC_000003.11:g.193355732T>C | ClinGen:CA2759251 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) | 4976 | OPA1 | Likely pathogenic | 1553876590 | RCV000519528|RCV000709838; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355741 | 193355741 | | | 3:g.193355741G>C | ClinGen:CA355788115 | CN517202 not provided; | |
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) | 4976 | OPA1 | Pathogenic/Likely pathogenic | 1577228080 | RCV000987378|RCV001374996; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926 | 3 | 193355756 | 193355756 | | | 3:g.193355756G>C | - | | |
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu) | 4976 | OPA1 | Pathogenic | 28939082 | RCV000005385; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355769 | 193355769 | | | 3:g.193355769G>A | ClinGen:CA253410,UniProtKB:O60313#VAR_011484,OMIM:605290.0001 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn) | 4976 | OPA1 | Uncertain significance | -1 | RCV002289335; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355778 | 193355778 | | | 193355778 | - | | |
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly) | 4976 | OPA1 | Uncertain significance | -1 | RCV002466884; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355816 | 193355816 | | | NC_000003.11:g.193355816A>G | - | | |
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) | 4976 | OPA1 | Pathogenic | 398124303 | RCV000081775|RCV000180653; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355853 | 193355853 | | | 3:g.193355853A>G | ClinGen:CA285745 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1149+3A>T | 4976 | OPA1 | Uncertain significance | 1733207545 | RCV001255704; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193355857 | 193355857 | | | 3:g.193355857A>T | - | | |
NM_130837.3(OPA1):c.1150-1G>A | 4976 | OPA1 | Pathogenic | 879255510 | RCV000005386|RCV000518060; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193360553 | 193360553 | | | NC_000003.11:g.193360553G>A | ClinGen:CA10575489,OMIM:605290.0002 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1230+1G>T | 4976 | OPA1 | not provided | 80356528 | RCV000020717; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193360635 | 193360635 | | | 3:g.193360635G>T | ClinGen:CA342176 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1230+5G>A | 4976 | OPA1 | Likely pathogenic | 1057519244 | RCV000415932|RCV002244863; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193360639 | 193360639 | | | 3:g.193360639G>A | ClinGen:CA16043894 | CN517202 not provided; | |
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) | 4976 | OPA1 | not provided | 863225275 | RCV000201881; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193360764 | 193360765 | | | 3:g.193360764_193360765insTT | ClinGen:CA347674 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) | 4976 | OPA1 | Benign/Likely benign | 150807064 | RCV000081745|RCV000370837|RCV000676696; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193360769 | 193360769 | | | 3:g.193360769A>G | ClinGen:CA285691 | CN517202 not provided; | |
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) | 4976 | OPA1 | Pathogenic | 104893753 | RCV000005390|RCV000790742|RCV003225922; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0800181,MedGen:CN322459 | 3 | 193360794 | 193360794 | | | 3:g.193360794C>T | ClinGen:CA223199,OMIM:605290.0006 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 146003075 | RCV001150534|RCV001882465; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193360819 | 193360819 | | | 3:g.193360819G>A | - | | |
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) | 4976 | OPA1 | Uncertain significance | 1313421147 | RCV000987379; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193360821 | 193360821 | | | 3:g.193360821T>G | - | | |
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) | 4976 | OPA1 | Benign/Likely benign | 139861334 | RCV000200427|RCV000277400|RCV000923286; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193360835 | 193360835 | | | NC_000003.11:g.193360835T>G | ClinGen:CA324994 | CN169374 not specified; | |
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 143319805 | RCV000043607|RCV000081747|RCV000210748|RCV000677258|RCV001267306|RCV001249638; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|Human Phenotype Ontology:HP:0000609,Human Phenotype Ontology:HP:0007273,MedGen:C0338502|MeSH:D030342,MedGen:C095 | 3 | 193361167 | 193361167 | | | 3:g.193361167A>G | ClinGen:CA143824,UniProtKB:O60313#VAR_060837,OMIM:605290.0018 | C0221061 210000 Abortive cerebellar ataxia; | |
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) | 4976 | OPA1 | Benign | 149752576 | RCV000081748|RCV000373000|RCV000971269; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193361198 | 193361198 | | | 3:g.193361198A>C | ClinGen:CA285696 | CN169374 not specified; | |
NM_130837.3(OPA1):c.1348G>A (p.Val450Met) | 4976 | OPA1 | Likely pathogenic | -1 | RCV003447731; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361204 | 193361204 | | | | - | | |
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) | 4976 | OPA1 | not provided | 863225276 | RCV000201900; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361223 | 193361223 | | | 3:g.193361223G>A | ClinGen:CA347676 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1377+1G>T | 4976 | OPA1 | Pathogenic | 2109043749 | RCV002226810; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361234 | 193361234 | | | 193361234 | - | | |
NM_130837.3(OPA1):c.1377+6T>A | 4976 | OPA1 | Uncertain significance | -1 | RCV002468880; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361239 | 193361239 | | | NC_000003.11:g.193361239T>A | - | | |
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) | 4976 | OPA1 | Likely pathogenic | 1577243012 | RCV000987380; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361393 | 193361393 | | | 3:g.193361393A>T | - | | |
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) | 4976 | OPA1 | Pathogenic | 879255511 | RCV000005391; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361397 | 193361399 | | | 3:g.193361397_193361399del | ClinGen:CA10575491,OMIM:605290.0007 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) | 4976 | OPA1 | Pathogenic | 863225277 | RCV000201926|RCV000274390; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193361414 | 193361414 | | | 3:g.193361414A>G | ClinGen:CA347686 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) | 4976 | OPA1 | Pathogenic | 80356529 | RCV000005396|RCV000081749|RCV000508953|RCV003137493; | N | MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MedGen:C3661900|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361785 | 193361785 | | | 3:g.193361785G>A | ClinGen:CA275012,UniProtKB:O60313#VAR_015741,OMIM:605290.0011 | C1852267 125250 Autosomal dominant optic atrophy plus syndrome; | |
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) | 4976 | OPA1 | Pathogenic | 1577244261 | RCV000987381|RCV002549677; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193361797 | 193361797 | | | 3:g.193361797C>G | - | | |
NM_130837.3(OPA1):c.1519del (p.Val507fs) | 4976 | OPA1 | Pathogenic | 879255512 | RCV000005392; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361804 | 193361804 | | | NC_000003.11:g.193361805del | ClinGen:CA10575492,OMIM:605290.0008 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 779722414 | RCV001150535|RCV002559450; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193361877 | 193361877 | | | 3:g.193361877G>A | - | | |
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT | 4976 | OPA1 | Pathogenic | -1 | RCV002287312; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193361892 | 193361904 | | | 193361892 | - | | |
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) | 4976 | OPA1 | Pathogenic | 1560377736 | RCV001253086; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193363563 | 193363564 | | | 3:g.193363563_193363564insT | - | | |
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 538099724 | RCV000280763|RCV001753810|RCV002523256; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 3 | 193363572 | 193363572 | | | NC_000003.11:g.193363572G>C | ClinGen:CA2759463 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) | 4976 | OPA1 | Benign | 78767626 | RCV000081751|RCV000319475|RCV000676698; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193364872 | 193364872 | | | 3:g.193364872A>C | ClinGen:CA285701 | CN517202 not provided; | |
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) | 4976 | OPA1 | Pathogenic | 398124298 | RCV000023415|RCV000508898|RCV001659726|RCV002464072; | N | MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193364899 | 193364899 | | | 3:g.193364899C>G | ClinGen:CA10575554,OMIM:605290.0015 | C1852267 125250 Autosomal dominant optic atrophy plus syndrome; | |
NM_130837.3(OPA1):c.1839G>A (p.Glu613=) | 4976 | OPA1 | Uncertain significance | 1734784679 | RCV001144444; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193364938 | 193364938 | | | 3:g.193364938G>A | - | | |
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter) | 4976 | OPA1 | Likely pathogenic | -1 | RCV002288384; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193364951 | 193364951 | | | 193364951 | - | | |
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs) | 4976 | OPA1 | Likely pathogenic | 1711513680 | RCV001353000; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193365877 | 193365878 | | | 193365876 | - | | |
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val) | 4976 | OPA1 | Uncertain significance | -1 | RCV003164467; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193365877 | 193365877 | | | | - | | |
NM_130837.3(OPA1):c.1935+1G>C | 4976 | OPA1 | Pathogenic/Likely pathogenic | 1711518217 | RCV001171734|RCV002290609; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193365924 | 193365924 | | | 3:g.193365924G>C | - | | |
NM_130837.3(OPA1):c.2049A>G (p.Val683=) | 4976 | OPA1 | Benign/Likely benign | 73069703 | RCV000081756|RCV000376369|RCV000676699; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193372687 | 193372687 | | | 3:g.193372687A>G | ClinGen:CA285707 | CN517202 not provided; | |
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 138114609 | RCV000176099|RCV000724106|RCV001144445; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193372726 | 193372726 | | | 3:g.193372726G>A | ClinGen:CA241961 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2142del (p.Gln714fs) | 4976 | OPA1 | Likely pathogenic | 2109139435 | RCV001375870; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193372780 | 193372780 | | | 193372779 | - | | |
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) | 4976 | OPA1 | Uncertain significance | 755591067 | RCV001267307|RCV001880138|RCV002290675|RCV003399040; | N | MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN169374 | 3 | 193374949 | 193374954 | | | 3:g.193374949_193374954del | - | | |
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) | 4976 | OPA1 | Benign | 9851685 | RCV000081757|RCV000576858|RCV000676700|RCV001787889|RCV001787887|RCV001787888; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239 | 3 | 193374964 | 193374964 | | | 3:g.193374964T>C | ClinGen:CA285712 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.2287del (p.Ser763fs) | 4976 | OPA1 | Pathogenic | 1219753329 | RCV001249637|RCV001587285|RCV003393921; | N | MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900| | 3 | 193374975 | 193374975 | | | 3:g.193374975_193374975del | - | | |
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter) | 4976 | OPA1 | Pathogenic | 772382178 | RCV001591808; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193374983 | 193374983 | | | 193374983 | - | | |
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) | 4976 | OPA1 | Pathogenic/Likely pathogenic | 863224906 | RCV000199194|RCV000756450; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193374986 | 193374986 | | | 3:g.193374986C>T | ClinGen:CA279008 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) | 4976 | OPA1 | Pathogenic | 1577297114 | RCV000987382; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193375004 | 193375005 | | | 3:g.193375004_193375005del | - | | |
NM_130837.3(OPA1):c.2331+10T>C | 4976 | OPA1 | Benign/Likely benign | 371096629 | RCV000341454|RCV000828294|RCV001660716; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MedGen:CN169374 | 3 | 193375031 | 193375031 | | | NC_000003.11:g.193375031T>C | ClinGen:CA2759621 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 190235251 | RCV000195741|RCV000287680; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193377336 | 193377336 | | | NC_000003.11:g.193377336C>T | ClinGen:CA320108,UniProtKB:O60313#VAR_060861 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 200428940 | RCV001144446|RCV002557085|RCV003283996|RCV003396771; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MeSH:D030342,MedGen:C0950123| | 3 | 193380621 | 193380621 | | | 3:g.193380621A>G | - | | |
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 145999595 | RCV000712463|RCV001146347; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193380682 | 193380682 | | | 3:g.193380682T>C | ClinGen:CA2759700 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) | 4976 | OPA1 | Pathogenic | 2109253558 | RCV002210943; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193382691 | 193382691 | | | 193382690 | - | | |
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter) | 4976 | OPA1 | Pathogenic | -1 | RCV002291141; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193382756 | 193382757 | | | 193382756 | - | | |
NM_130837.3(OPA1):c.2778+1G>A | 4976 | OPA1 | Likely pathogenic | -1 | RCV003388890; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193382786 | 193382786 | | | | - | | |
NM_130837.3(OPA1):c.2778+11C>G | 4976 | OPA1 | Benign | 111688935 | RCV000081762|RCV000345029|RCV001516209; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193382796 | 193382796 | | | 3:g.193382796C>G | ClinGen:CA285717 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2779-9A>G | 4976 | OPA1 | Pathogenic/Likely pathogenic | 1716524583 | RCV001090771|RCV002287468|RCV003413905; | N | MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673| | 3 | 193384076 | 193384076 | | | 3:g.193384076A>G | - | | |
NM_130837.3(OPA1):c.2806del (p.Trp936fs) | 4976 | OPA1 | Likely pathogenic | -1 | RCV002571624; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193384109 | 193384109 | | | NC_000003.11:g.193384112del | - | | |
NM_130837.3(OPA1):c.2819G>A (p.Arg940His) | 4976 | OPA1 | Uncertain significance | -1 | RCV002651780|RCV003140146; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193384125 | 193384125 | | | NC_000003.11:g.193384125G>A | - | | |
NM_130837.3(OPA1):c.2873_2876del | 4976 | OPA1 | Pathogenic/Likely pathogenic | 80356530 | RCV000005387|RCV000081763|RCV000210745|RCV000508703|RCV001073751|RCV001542739|RCV002287324|RCV002490322|RCV003319160|RCV003390643; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0000556,Human Phenot | 3 | 193384957 | 193384960 | | | 3:g.193384957_193384960del | ClinGen:CA143822,OMIM:605290.0003 | C0221061 210000 Abortive cerebellar ataxia; | |
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) | 4976 | OPA1 | Benign/Likely benign | 144898877 | RCV000127284|RCV000676701|RCV001146348; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193384966 | 193384966 | | | 3:g.193384966A>G | ClinGen:CA292630 | CN517202 not provided; | |
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) | 4976 | OPA1 | Benign/Likely benign | 35540805 | RCV000081764|RCV000390234|RCV000676702; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193385047 | 193385047 | | | 3:g.193385047C>T | ClinGen:CA285718 | CN517202 not provided; | |
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 375733283 | RCV000489553|RCV001146349|RCV002307519; | N | MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN169374 | 3 | 193385048 | 193385048 | | | 3:g.193385048G>A | ClinGen:CA2759786 | CN517202 not provided; | |
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) | 4976 | OPA1 | Benign | 117475774 | RCV000127286|RCV000309966|RCV001522935; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193385059 | 193385059 | | | 3:g.193385059G>A | ClinGen:CA292635 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 117475774 | RCV000427075|RCV001146350; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193385059 | 193385059 | | | 3:g.193385059G>C | ClinGen:CA2759789 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2983+6T>A | 4976 | OPA1 | Conflicting interpretations of pathogenicity | 1577335678 | RCV000987383|RCV002549678; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193385075 | 193385075 | | | 3:g.193385075T>A | - | | |
NM_130837.3(OPA1):c.2984-4A>G | 4976 | OPA1 | Benign/Likely benign | 184273607 | RCV000197763|RCV000366930|RCV000895939; | N | MedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193409848 | 193409848 | | | NC_000003.11:g.193409848A>G | ClinGen:CA322235 | CN169374 not specified; | |
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr) | 4976 | OPA1 | Likely pathogenic | 1721758840 | RCV001353002; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193409855 | 193409855 | | | 193409855 | - | | |
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) | 4976 | OPA1 | Pathogenic/Likely pathogenic | 879255560 | RCV000005388|RCV000355298; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:C3661900 | 3 | 193409856 | 193409859 | | | 3:g.193409856_193409859del | ClinGen:CA10575490,OMIM:605290.0004 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.2991del (p.Arg998fs) | 4976 | OPA1 | Pathogenic | 80356531 | RCV000005393; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193409858 | 193409858 | | | 3:g.193409858_193409858del | ClinGen:CA340337,OMIM:605290.0009 | C0338508 165500 Dominant hereditary optic atrophy; | |
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter) | 4976 | OPA1 | Uncertain significance | -1 | RCV002289025; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193409863 | 193409863 | | | 193409863 | - | | |
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) | 4976 | OPA1 | Pathogenic | 879255513 | RCV000005397|RCV000023413; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250 | 3 | 193409881 | 193409882 | | | NC_000003.11:g.193409881_193409882del | ClinGen:CA10575493,OMIM:605290.0012 | C1852267 125250 Autosomal dominant optic atrophy plus syndrome; | |
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr) | 4976 | OPA1 | Uncertain significance | 1166323851 | RCV001149147|RCV002032383; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202 | 3 | 193409884 | 193409884 | | | 3:g.193409884G>A | - | | |
NM_130837.3(OPA1):c.*56C>T | 4976 | OPA1 | Uncertain significance | 564487151 | RCV000398600; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412445 | 193412445 | | | NC_000003.11:g.193412445C>T | ClinGen:CA10615973 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*220A>G | 4976 | OPA1 | Benign | 76421015 | RCV000315355; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412609 | 193412609 | | | NC_000003.11:g.193412609A>G | ClinGen:CA10618279 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*228A>G | 4976 | OPA1 | Benign | 577816325 | RCV001149148; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412617 | 193412617 | | | 3:g.193412617A>G | - | | |
NM_130837.3(OPA1):c.*260G>T | 4976 | OPA1 | Uncertain significance | 886058256 | RCV000353879; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412649 | 193412649 | | | NC_000003.11:g.193412649G>T | ClinGen:CA10615975 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*283A>G | 4976 | OPA1 | Benign | 1061648 | RCV000261365; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412672 | 193412672 | | | NC_000003.11:g.193412672A>G | ClinGen:CA10618280 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*322G>A | 4976 | OPA1 | Uncertain significance | 886058257 | RCV000318878; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412711 | 193412711 | | | NC_000003.11:g.193412711G>A | ClinGen:CA10617902 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*341G>T | 4976 | OPA1 | Uncertain significance | 1042977453 | RCV001150653; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412730 | 193412730 | | | 3:g.193412730G>T | - | | |
NM_130837.3(OPA1):c.*376A>G | 4976 | OPA1 | Benign | 142349183 | RCV000357474; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412765 | 193412765 | | | NC_000003.11:g.193412765A>G | ClinGen:CA10615443 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*403T>C | 4976 | OPA1 | Uncertain significance | 779665090 | RCV001150654; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412792 | 193412792 | | | 3:g.193412792T>C | - | | |
NM_130837.3(OPA1):c.*427A>T | 4976 | OPA1 | Uncertain significance | 565230692 | RCV001150655; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412816 | 193412816 | | | 3:g.193412816A>T | - | | |
NM_130837.3(OPA1):c.*560T>C | 4976 | OPA1 | Benign | 7643844 | RCV000265010; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193412949 | 193412949 | | | NC_000003.11:g.193412949T>C | ClinGen:CA10615445 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*614A>G | 4976 | OPA1 | Uncertain significance | 1321516515 | RCV001150656; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413003 | 193413003 | | | 3:g.193413003A>G | - | | |
NM_130837.3(OPA1):c.*622C>T | 4976 | OPA1 | Uncertain significance | 750359704 | RCV000322498; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413011 | 193413011 | | | NC_000003.11:g.193413011C>T | ClinGen:CA10617903 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*623G>A | 4976 | OPA1 | Benign | 146468889 | RCV000379490; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413012 | 193413012 | | | NC_000003.11:g.193413012G>A | ClinGen:CA10615446 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*694C>A | 4976 | OPA1 | Uncertain significance | 190367068 | RCV000268642; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413083 | 193413083 | | | NC_000003.11:g.193413083C>A | ClinGen:CA10615451 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*743G>C | 4976 | OPA1 | Uncertain significance | 377022565 | RCV001144552; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413132 | 193413132 | | | 3:g.193413132G>C | - | | |
NM_130837.3(OPA1):c.*863A>G | 4976 | OPA1 | Uncertain significance | 193292545 | RCV000325992; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413252 | 193413252 | | | NC_000003.11:g.193413252A>G | ClinGen:CA10617905 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1031A>T | 4976 | OPA1 | Benign | 114606850 | RCV000382891; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413420 | 193413420 | | | NC_000003.11:g.193413420A>T | ClinGen:CA10618281 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1039A>G | 4976 | OPA1 | Uncertain significance | 548278496 | RCV001144553; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413428 | 193413428 | | | 3:g.193413428A>G | - | | |
NM_130837.3(OPA1):c.*1113C>T | 4976 | OPA1 | Benign | 12630 | RCV000290844; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413502 | 193413502 | | | NC_000003.11:g.193413502C>T | ClinGen:CA10615460 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1131C>T | 4976 | OPA1 | Uncertain significance | 1004141070 | RCV001146482; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413520 | 193413520 | | | 3:g.193413520C>T | - | | |
NM_130837.3(OPA1):c.*1266G>A | 4976 | OPA1 | Uncertain significance | 932178332 | RCV001146483; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413655 | 193413655 | | | 3:g.193413655G>A | - | | |
NM_130837.3(OPA1):c.*1343A>G | 4976 | OPA1 | Benign | 1056366 | RCV000348053; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413732 | 193413732 | | | NC_000003.11:g.193413732A>G | ClinGen:CA10618282 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1425G>A | 4976 | OPA1 | Benign | 117826024 | RCV000386286; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413814 | 193413814 | | | NC_000003.11:g.193413814G>A | ClinGen:CA10615979 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1581A>C | 4976 | OPA1 | Uncertain significance | 976048011 | RCV001146484; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413970 | 193413970 | | | 3:g.193413970A>C | - | | |
NM_130837.3(OPA1):c.*1610C>A | 4976 | OPA1 | Benign | 73069785 | RCV000294308; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193413999 | 193413999 | | | NC_000003.11:g.193413999C>A | ClinGen:CA10615462 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1815T>C | 4976 | OPA1 | Uncertain significance | 570796106 | RCV000351531; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414204 | 193414204 | | | NC_000003.11:g.193414204T>C | ClinGen:CA10615980 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1884C>T | 4976 | OPA1 | Uncertain significance | 549889830 | RCV001149256; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414273 | 193414273 | | | 3:g.193414273C>T | - | | |
NM_130837.3(OPA1):c.*1919T>A | 4976 | OPA1 | Uncertain significance | 867799524 | RCV000401195; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414308 | 193414308 | | | NC_000003.11:g.193414308T>A | ClinGen:CA10615464 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*1920C>A | 4976 | OPA1 | Uncertain significance | 868274533 | RCV001149257; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414309 | 193414309 | | | 3:g.193414309C>A | - | | |
NM_130837.3(OPA1):c.*2092C>T | 4976 | OPA1 | Benign | 1056390 | RCV000297019; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414481 | 193414481 | | | NC_000003.11:g.193414481C>T | ClinGen:CA10615981 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2115G>A | 4976 | OPA1 | Benign | 144079165 | RCV000335665; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414504 | 193414504 | | | NC_000003.11:g.193414504G>A | ClinGen:CA10615465 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2156A>G | 4976 | OPA1 | Uncertain significance | 886058258 | RCV000402263; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414545 | 193414545 | | | NC_000003.11:g.193414545A>G | ClinGen:CA10615995 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2170A>G | 4976 | OPA1 | Uncertain significance | 921945798 | RCV001149258; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414559 | 193414559 | | | 3:g.193414559A>G | - | | |
NM_130837.3(OPA1):c.*2234G>A | 4976 | OPA1 | Uncertain significance | 1577422301 | RCV001149259; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414623 | 193414623 | | | 3:g.193414623G>A | - | | |
NM_130837.3(OPA1):c.*2241A>G | 4976 | OPA1 | Uncertain significance | 778074372 | RCV000300612; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414630 | 193414630 | | | NC_000003.11:g.193414630A>G | ClinGen:CA10615996 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2283A>G | 4976 | OPA1 | Uncertain significance | 886058259 | RCV000357727; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414672 | 193414672 | | | NC_000003.11:g.193414672A>G | ClinGen:CA10615466 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2286T>C | 4976 | OPA1 | Benign | 115575058 | RCV000265272; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414675 | 193414675 | | | NC_000003.11:g.193414675T>C | ClinGen:CA10616000 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2344A>G | 4976 | OPA1 | Benign | 1056392 | RCV000304099; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414733 | 193414733 | | | NC_000003.11:g.193414733A>G | ClinGen:CA10615467 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2391T>C | 4976 | OPA1 | Benign | 11719309 | RCV000361318; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414780 | 193414780 | | | NC_000003.11:g.193414780T>C | ClinGen:CA10615470 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2408A>G | 4976 | OPA1 | Benign | 73069788 | RCV000268945; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414797 | 193414797 | | | NC_000003.11:g.193414797A>G | ClinGen:CA10618283 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2416C>T | 4976 | OPA1 | Uncertain significance | 539683627 | RCV000326471; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193414805 | 193414805 | | | NC_000003.11:g.193414805C>T | ClinGen:CA10615474 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2692G>A | 4976 | OPA1 | Uncertain significance | 886058261 | RCV000272622; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415081 | 193415081 | | | NC_000003.11:g.193415081G>A | ClinGen:CA10618284 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2694T>A | 4976 | OPA1 | Uncertain significance | 886058262 | RCV000330080; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415083 | 193415083 | | | NC_000003.11:g.193415083T>A | ClinGen:CA10618285 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2801A>G | 4976 | OPA1 | Uncertain significance | 148268725 | RCV001144658; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415190 | 193415190 | | | 3:g.193415190A>G | - | | |
NM_130837.3(OPA1):c.*2839C>T | 4976 | OPA1 | Uncertain significance | 867048244 | RCV001144659; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415228 | 193415228 | | | 3:g.193415228C>T | - | | |
NM_130837.3(OPA1):c.*2861A>G | 4976 | OPA1 | Uncertain significance | 1456505503 | RCV001144660; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415250 | 193415250 | | | 3:g.193415250A>G | - | | |
NM_130837.3(OPA1):c.*2873A>T | 4976 | OPA1 | Benign | 10419 | RCV000386946; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415262 | 193415262 | | | NC_000003.11:g.193415262A>T | ClinGen:CA10618286 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2902A>G | 4976 | OPA1 | Uncertain significance | 1030937333 | RCV001144661; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415291 | 193415291 | | | 3:g.193415291A>G | - | | |
NM_130837.3(OPA1):c.*2909A>T | 4976 | OPA1 | Uncertain significance | 886058263 | RCV000295063; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415298 | 193415298 | | | NC_000003.11:g.193415298A>T | ClinGen:CA10615476 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*2993C>A | 4976 | OPA1 | Benign | 143991575 | RCV000334843; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415382 | 193415382 | | | NC_000003.11:g.193415382C>A | ClinGen:CA10617911 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*3027A>G | 4976 | OPA1 | Benign | 56329083 | RCV000373104; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415416 | 193415416 | | | NC_000003.11:g.193415416A>G | ClinGen:CA10615479 | CN239213 Optic Atrophy, Dominant; | |
NM_130837.3(OPA1):c.*3147G>C | 4976 | OPA1 | Uncertain significance | 886058264 | RCV000280852; | N | MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673 | 3 | 193415536 | 193415536 | | | NC_000003.11:g.193415536G>C | ClinGen:CA10615480 | CN239213 Optic Atrophy, Dominant; | |