Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_012920.1:m.8686T>C | 4508 | MT-ATP6 | Uncertain significance | rs1569484231 | RCV000709918|RCV000854289; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010794,MedGen:C1328349,OMIM:551500, Orphanet:644; MedGen:CN043634|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25 | M | 8686 | 8686 | | | m.8686T>C | - | | |
NC_012920.1(MT-ATP6):m.8783G>A | 4508 | MT-ATP6 | Pathogenic/Likely pathogenic | rs1603221804 | RCV000854322|RCV002249549; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 8783 | 8783 | | | M:g.8783G>A | - | | |
NC_012920.1:m.8851T>C | 4508 | MT-ATP6 | Uncertain significance | rs199476136 | RCV000010280|RCV000144005|RCV001268336|RCV001542705|RCV002221472; | Y | MONDO:MONDO:0010774,MedGen:C1839022,OMIM:500003|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet | M | 8851 | 8851 | | | M:g.8851T>C | ClinGen:CA120598,OMIM:516060.0006 | C0023264 256000 Leigh syndrome; | |
m.9101T>C | 4508 | MT-ATP6 | Benign | rs199476134 | RCV000010277|RCV000854439; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 9101 | 9101 | | | M:g.9101T>C | ClinGen:CA340927,OMIM:516060.0003 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1:m.9176T>G | 4508 | MT-ATP6 | Likely pathogenic | rs199476135 | RCV000010285|RCV000754649|RCV001542708|RCV001543462|RCV002221473; | Y | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0027069,MedGen:C3275684,OMIM:500015|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN51 | M | 9176 | 9176 | | | M:g.9176T>G | ClinGen:CA340929,OMIM:516060.0011 | C0023264 256000 Leigh syndrome; | |
NC_012920.1:m.9205_9206del | -1 | MT-ATP6;MT-CO3 | Likely pathogenic | rs199476137 | RCV000010281|RCV002260586|RCV002247301; | Y | MedGen:C4016603|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 9204 | 9205 | | | M:g.9204_9205del | ClinGen:CA120599,OMIM:516050.0007,OMIM:516060.0007 | C4016603 Seizures and lactic acidosis; | |
NC_012920.1:m.7444G>A | -1 | MT-CO1;MT-TS1 | Conflicting interpretations of pathogenicity | rs199474822 | RCV000010301|RCV000010300|RCV000010299|RCV000854073|RCV001268422; | Y | MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphan | M | 7444 | 7444 | | | M:g.7444G>A | ClinGen:CA254851,OMIM:516030.0001,OMIM:590080.0006 | C1838854 580000 Aminoglycoside-induced deafness; | |
NC_012920.1:m.9237G>A | 4514 | MT-CO3 | Pathogenic | rs1057516064 | RCV000408945|RCV002248640; | N | MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544; Human Phenotype Ontology:HP:0006789,MedGen:C1852373; MedGen:C0424605|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 9237 | 9237 | | | M:g.9237G>A | ClinGen:CA16040652 | C0424605 Developmental delay; | |
m.9438G>A | 4514 | MT-CO3 | Benign | rs267606611 | RCV000010286|RCV000854514; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 9438 | 9438 | | | M:g.9438G>A | ClinGen:CA254850,OMIM:516050.0001 | C0917796 535000 Leber's optic atrophy; | |
m.9804G>A | 4514 | MT-CO3 | Conflicting interpretations of pathogenicity | rs200613617 | RCV000010287|RCV000756352|RCV000854582|RCV001196020; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506| | M | 9804 | 9804 | | | M:g.9804G>A | ClinGen:CA340930,OMIM:516050.0002 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1(MT-CYB):m.14795T>C | 4519 | MT-CYB | Uncertain significance | rs1603224896 | RCV000855158|RCV002287449; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 14795 | 14795 | | | M:g.14795T>C | - | | |
m.14831G>A | 4519 | MT-CYB | Benign | rs199795644 | RCV000055706|RCV000855165; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 14831 | 14831 | | | M:g.14831G>A | ClinGen:CA344826 | C0917796 535000 Leber's optic atrophy; | |
m.15150G>A | 4519 | MT-CYB | Pathogenic | rs207460000 | RCV000010319|RCV000855232|RCV002247305; | N | Human Phenotype Ontology:HP:0003546,MedGen:C0424551|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 15150 | 15150 | | | M:g.15150G>A | ClinGen:CA120619,OMIM:516020.0008 | C0424551 Exercise intolerance; | |
m.15257G>A | 4519 | MT-CYB | Benign | rs41518645 | RCV000010312|RCV000855257; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 15257 | 15257 | | | M:g.15257G>A | ClinGen:CA340931,OMIM:516020.0001 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1(MT-CYB):m.15437G>A | 4519 | MT-CYB | Uncertain significance | rs878853058 | RCV000224435|RCV000764855|RCV000855292; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:25 | M | 15437 | 15437 | | | M:g.15437G>A | ClinGen:CA10581343 | CN517202 not provided; | |
m.15579A>G | 4519 | MT-CYB | Pathogenic/Likely pathogenic | rs207460002 | RCV000010321|RCV000855325|RCV002247306; | Y | MedGen:C0559758|MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 15579 | 15579 | | | M:g.15579A>G | ClinGen:CA120621,OMIM:516020.0010 | C0559758 Multisystem disorder; | |
m.15812G>A | 4519 | MT-CYB | Benign | rs200336777 | RCV000010313|RCV000855379; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 15812 | 15812 | | | M:g.15812G>A | ClinGen:CA254852,OMIM:516020.0002 | C0917796 535000 Leber's optic atrophy; | |
m.3376G>A | 4535 | MT-ND1 | Uncertain significance | rs397515612 | RCV000056167|RCV002260605; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 3376 | 3376 | | | M:g.3376G>A | ClinGen:CA345259 | C0917796 535000 Leber's optic atrophy; | |
m.3394T>C | 4535 | MT-ND1 | Conflicting interpretations of pathogenicity | rs41460449 | RCV000010375|RCV000507319|RCV000853650; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 3394 | 3394 | | | M:g.3394T>C | ClinGen:CA340944,OMIM:516000.0004 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1:m.3460G>A | 4535 | MT-ND1 | Pathogenic | rs199476118 | RCV000010370|RCV000143998|RCV000757484|RCV000735416; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202| | M | 3460 | 3460 | | | M:g.3460G>A | ClinGen:CA120646,OMIM:516000.0001 | C0917796 535000 Leber's optic atrophy; | |
m.3635G>A | 4535 | MT-ND1 | Likely pathogenic | rs397515507 | RCV000055707|RCV002291214; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 3635 | 3635 | | | M:g.3635G>A | ClinGen:CA344827 | C0917796 535000 Leber's optic atrophy; | |
m.3697G>A | 4535 | MT-ND1 | Likely pathogenic | rs199476122 | RCV000010386|RCV000010385|RCV000056168|RCV002221474; | Y | MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet: | M | 3697 | 3697 | | | M:g.3697G>A | ClinGen:CA120647,OMIM:516000.0012 | C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; | |
m.3700G>A | 4535 | MT-ND1 | Uncertain significance | rs397515508 | RCV000055708|RCV000415448|RCV002221484; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|Human Phenotype Ontology:HP:0000572,MedGen:C3665386; Human Phenotype Ontology:HP:0000512,Human Phenotype Ontology:HP:0003 | M | 3700 | 3700 | | | M:g.3700G>A | ClinGen:CA344828 | C1849688 Abnormal electroretinogram; | |
m.3733G>A | 4535 | MT-ND1 | Uncertain significance | rs199476125 | RCV000010389|RCV002221475; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 3733 | 3733 | | | M:g.3733G>A | ClinGen:CA340950,OMIM:516000.0015 | C0917796 535000 Leber's optic atrophy; | |
m.3946G>A | 4535 | MT-ND1 | Pathogenic/Likely pathogenic | rs199476123 | RCV000010387|RCV000853718|RCV001542704; | N | MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:10 | M | 3946 | 3946 | | | M:g.3946G>A | ClinGen:CA254862,OMIM:516000.0013 | C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; | |
m.4025C>T | 4535 | MT-ND1 | Benign | rs397515509 | RCV000055709|RCV000853724; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 4025 | 4025 | | | M:g.4025C>T | ClinGen:CA344829 | C0917796 535000 Leber's optic atrophy; | |
m.4136A>G | 4535 | MT-ND1 | Benign | rs199476121 | RCV000010378|RCV000853739; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 4136 | 4136 | | | M:g.4136A>G | ClinGen:CA254860,OMIM:516000.0006 | C0917796 535000 Leber's optic atrophy; | |
m.4160T>C | 4535 | MT-ND1 | Pathogenic | rs199476119 | RCV000010372; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 4160 | 4160 | | | M:g.4160T>C | ClinGen:CA340942,OMIM:516000.0002 | C0917796 535000 Leber's optic atrophy; | |
m.4171C>A | 4535 | MT-ND1 | Uncertain significance | rs28616230 | RCV000010384|RCV002260596; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 4171 | 4171 | | | M:g.4171C>A | ClinGen:CA340948,OMIM:516000.0010 | C0917796 535000 Leber's optic atrophy; | |
m.4216T>C | 4535 | MT-ND1 | Benign | rs1599988 | RCV000010373|RCV000709875|RCV000853749; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 4216 | 4216 | | | M:g.4216T>C | ClinGen:CA340943,OMIM:516000.0003 | C0917796 535000 Leber's optic atrophy; | |
m.4640C>A | 4536 | MT-ND2 | Benign | rs387906426 | RCV000010366|RCV000853787; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 4640 | 4640 | | | M:g.4640C>A | ClinGen:CA340941,OMIM:516001.0003 | C0917796 535000 Leber's optic atrophy; | |
m.4917A>G | 4536 | MT-ND2 | Benign | rs28357980 | RCV000010364|RCV000853834; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 4917 | 4917 | | | M:g.4917A>G | OMIM:516001.0001,ClinGen:CA254858 | C0917796 535000 Leber's optic atrophy; | |
m.5244G>A | 4536 | MT-ND2 | Pathogenic | rs199476115 | RCV000010365; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 5244 | 5244 | | | M:g.5244G>A | ClinGen:CA340940,OMIM:516001.0002 | C0917796 535000 Leber's optic atrophy; | |
m.10237T>C | 4537 | MT-ND3 | Benign | rs1556423787 | RCV000055695|RCV000854632; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 10237 | 10237 | | | M:g.10237T>C | ClinGen:CA344819 | C0917796 535000 Leber's optic atrophy; | |
m.11253T>C | 4538 | MT-ND4 | Benign | rs200145866 | RCV000055696|RCV000854721; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 11253 | 11253 | | | M:g.11253T>C | ClinGen:CA344820 | C0917796 535000 Leber's optic atrophy; | |
m.11696G>A | 4538 | MT-ND4 | Benign | rs200873900 | RCV000010356|RCV000055697|RCV000854742; | N | MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet: | M | 11696 | 11696 | | | M:g.11696G>A | ClinGen:CA120635,OMIM:516003.0003 | C1839040 500001 Leber hereditary optic neuropathy with dystonia; | |
m.11777C>A | 4538 | MT-ND4 | Likely pathogenic | rs28384199 | RCV000010357|RCV000144013|RCV000854746|RCV002260594; | Y | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MON | M | 11777 | 11777 | | | M:g.11777C>A | ClinGen:CA120636,OMIM:516003.0004 | C0023264 256000 Leigh syndrome; | |
NC_012920.1:m.11778G>A | 4538 | MT-ND4 | Pathogenic | rs199476112 | RCV000010354|RCV000224219|RCV002288481|RCV002260593|RCV002285007; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0010640,MedGen:C1839891,OMIM:308905, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651,Orphane | M | 11778 | 11778 | | | M:g.11778G>A | OMIM:516003.0001,ClinGen:CA340939 | C0917796 535000 Leber's optic atrophy; | |
m.10663T>C | 4539 | MT-ND4L | Pathogenic | rs1556423844 | RCV000010353; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 10663 | 10663 | | | M:g.10663T>C | ClinGen:CA340938,OMIM:516004.0002 | C0917796 535000 Leber's optic atrophy; | |
m.12338T>C | 4540 | MT-ND5 | Benign | rs201863060 | RCV000022893|RCV000854787; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 12338 | 12338 | | | M:g.12338T>C | ClinGen:CA259737,OMIM:516005.0011 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1(MT-ND5):m.12425del | 4540 | MT-ND5 | Pathogenic | rs1603223730 | RCV000854811|RCV002226500|RCV002249550; | N | MONDO:MONDO:0010780,MedGen:C3151898,OMIM:500009, Orphanet:254864|MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet | M | 12418 | 12418 | | | M:g.12418_12418del | - | | |
m.12706T>C | 4540 | MT-ND5 | Likely pathogenic | rs267606893 | RCV000010338|RCV000144015|RCV002247308|RCV002260591; | Y | MedGen:C1838951|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651,Orphane | M | 12706 | 12706 | | | M:g.12706T>C | ClinGen:CA120628,OMIM:516005.0003 | C0023264 256000 Leigh syndrome; | |
m.12811T>C | 4540 | MT-ND5 | Conflicting interpretations of pathogenicity | rs199974018 | RCV000055698|RCV000507393|RCV000854857; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 12811 | 12811 | | | M:g.12811T>C | ClinGen:CA344821 | C0917796 535000 Leber's optic atrophy; | |
m.12848C>T | 4540 | MT-ND5 | Pathogenic | rs267606899 | RCV000010350; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 12848 | 12848 | | | M:g.12848C>T | ClinGen:CA340937,OMIM:516005.0009 | C0917796 535000 Leber's optic atrophy; | |
m.13045A>C | 4540 | MT-ND5 | Pathogenic | rs267606895 | RCV000010340|RCV000010341|RCV000010342; | N | MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:C1838951 | M | 13045 | 13045 | | | M:g.13045A>C | ClinGen:CA120629,OMIM:516005.0005 | C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; | |
NC_012920.1:m.13051G>A | 4540 | MT-ND5 | Pathogenic/Likely pathogenic | rs1131692063 | RCV000495629|RCV000854887; | Y | MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 13051 | 13051 | | | M:g.13051G>A | ClinGen:CA414816093 | C0751651 Mitochondrial diseases; | |
NC_012920.1(MT-ND5):m.13063G>A | 4540 | MT-ND5 | Pathogenic/Likely pathogenic | rs1603224017 | RCV000854888|RCV002249551; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 13063 | 13063 | | | M:g.13063G>A | - | | |
NC_012920.1:m.13094T>C | 4540 | MT-ND5 | Pathogenic | rs1603224029 | RCV000854891|RCV002249552|RCV002291219; | Y | MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 13094 | 13094 | | | M:g.13094T>C | - | | |
m.13637A>G | 4540 | MT-ND5 | Benign | rs200855215 | RCV000055699|RCV000854959; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 13637 | 13637 | | | M:g.13637A>G | ClinGen:CA344822 | C0917796 535000 Leber's optic atrophy; | |
m.13708G>A | 4540 | MT-ND5 | Benign | rs28359178 | RCV000010336|RCV000854970; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 13708 | 13708 | | | M:g.13708G>A | ClinGen:CA340935,OMIM:516005.0001 | C0917796 535000 Leber's optic atrophy; | |
m.13730G>A | 4540 | MT-ND5 | Pathogenic | rs387906425 | RCV000010337; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 13730 | 13730 | | | M:g.13730G>A | ClinGen:CA340936,OMIM:516005.0002 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1(MT-ND5):m.13763C>T | 4540 | MT-ND5 | Likely benign | rs1603224344 | RCV000854982|RCV001824897; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN043634; Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:54 | M | 13763 | 13763 | | | M:g.13763C>T | - | | |
m.14279G>A | 4541 | MT-ND6 | Uncertain significance | rs869025187 | RCV000055705|RCV000855082; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 14279 | 14279 | | | m.14279G>A | ClinGen:CA356575 | C0917796 535000 Leber's optic atrophy; | |
m.14325T>C | 4541 | MT-ND6 | Benign | rs397515505 | RCV000055700|RCV000855092; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 14325 | 14325 | | | M:g.14325T>C | ClinGen:CA344823 | C0917796 535000 Leber's optic atrophy; | |
m.14459G>A | 4541 | MT-ND6 | Pathogenic | rs199476105 | RCV000010326|RCV000010328|RCV000010327|RCV000144019|RCV001796715; | Y | MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|MedGen:C1838951|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM: | M | 14459 | 14459 | | | M:g.14459G>A | ClinGen:CA120625,OMIM:516006.0002 | C1839040 500001 Leber hereditary optic neuropathy with dystonia; | |
m.14482C>A | 4541 | MT-ND6 | Likely pathogenic | rs199476108 | RCV000010332|RCV002260590; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 14482 | 14482 | | | M:g.14482C>A | ClinGen:CA340934,OMIM:516006.0006 | C0917796 535000 Leber's optic atrophy; | |
m.14482C>G | 4541 | MT-ND6 | not provided | rs199476108 | RCV000055701; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 14482 | 14482 | | | M:g.14482C>G | ClinGen:CA344824 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1:m.14484T>C | 4541 | MT-ND6 | Pathogenic | rs199476104 | RCV000010325|RCV000144018|RCV000223709; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | M | 14484 | 14484 | | | M:g.14484T>C | ClinGen:CA340932,OMIM:516006.0001 | C0917796 535000 Leber's optic atrophy; | |
m.14487T>C | 4541 | MT-ND6 | Pathogenic | rs199476109 | RCV000010333|RCV000010334|RCV000144020|RCV002247307; | Y | MedGen:C1838951|MedGen:C1838954|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 14487 | 14487 | | | M:g.14487T>C | ClinGen:CA120627,OMIM:516006.0007 | C0023264 256000 Leigh syndrome; | |
m.14495A>G | 4541 | MT-ND6 | Likely pathogenic | rs199476106 | RCV000010330|RCV002260588; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 14495 | 14495 | | | M:g.14495A>G | ClinGen:CA340933,OMIM:516006.0004 | C0917796 535000 Leber's optic atrophy; | |
m.14498T>C | 4541 | MT-ND6 | Uncertain significance | rs869025186 | RCV000055702|RCV000855115; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 14498 | 14498 | | | M:g.14498T>C | ClinGen:CA356574 | C0917796 535000 Leber's optic atrophy; | |
NC_012920.1(MT-ND6):m.14502T>C | 4541 | MT-ND6 | Benign | rs201327354 | RCV000851178|RCV000855116; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | M | 14502 | 14502 | | | M:g.14502T>C | - | | |
m.14568C>T | 4541 | MT-ND6 | Likely pathogenic | rs397515506 | RCV000055703|RCV002260604; | Y | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380 | M | 14568 | 14568 | | | M:g.14568C>T | ClinGen:CA344825 | C0917796 535000 Leber's optic atrophy; | |
m.14596A>T | 4541 | MT-ND6 | Pathogenic | rs387906424 | RCV000010329|RCV000055704; | N | MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001, Orphanet:99718|Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | M | 14596 | 14596 | | | M:g.14596A>T | ClinGen:CA120626,OMIM:516006.0003 | C1839040 500001 Leber hereditary optic neuropathy with dystonia; | |
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) | 4720 | NDUFS2 | Likely pathogenic | rs1553249704 | RCV000625868; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | 1 | 161176262 | 161176262 | | | 1:g.161176262G>A | ClinGen:CA343377955 | C0917796 535000 Leber's optic atrophy; | |
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp) | 4007 | PRICKLE3 | risk factor | rs2065470015 | RCV001281698; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104 | X | 49040342 | 49040342 | | | 49040342 | OMIM:300111.0001 | | |
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly) | 6101 | RP1 | Uncertain significance | rs1315126444 | RCV001290414|RCV001366428; | N | Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104|MedGen:CN517202 | 8 | 55540818 | 55540818 | | | 55540818 | - | | |