Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) | -1 | ERCC8;NDUFAF2 | Benign | rs158921 | RCV000117705|RCV000278856|RCV000290995|RCV000348449|RCV000676954|RCV001778734; | N | MedGen:CN169374|MONDO:MONDO:0016006,MedGen:C0009207, Orphanet:191|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 | 5 | 60241142 | 60241142 | | | 5:g.60241142G>A | ClinGen:CA153853 | C0009207 Cockayne syndrome; | |
NM_017547.3(FOXRED1):c.-163G>C | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs552937899 | RCV000290769|RCV001540172; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126138939 | 126138939 | | | NC_000011.9:g.126138939G>C | ClinGen:CA6353868 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.3(FOXRED1):c.-151C>A | 55572 | FOXRED1 | Uncertain significance | rs546439717 | RCV001107654; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126138951 | 126138951 | | | 11:g.126138951C>A | - | | |
NM_017547.4(FOXRED1):c.-31A>G | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs368307265 | RCV000196717|RCV000327076; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126139071 | 126139071 | | | NC_000011.9:g.126139071A>G | ClinGen:CA321140 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.-2T>C | 55572 | FOXRED1 | Benign | rs1786702 | RCV000381743|RCV000676596|RCV001701845; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241 | 11 | 126139100 | 126139100 | | | NC_000011.9:g.126139100T>C | ClinGen:CA6353909 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs28372779 | RCV000125154|RCV000286921|RCV000726563; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126139110 | 126139110 | | | NC_000011.9:g.126139110G>A | ClinGen:CA290960 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) | 55572 | FOXRED1 | Uncertain significance | rs149883459 | RCV000341838|RCV001837745; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126139111 | 126139111 | | | NC_000011.9:g.126139111A>G | ClinGen:CA323083 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) | 55572 | FOXRED1 | Uncertain significance | rs375454069 | RCV000391454; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126139136 | 126139136 | | | NC_000011.9:g.126139136G>C | ClinGen:CA6353924 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs148346044 | RCV000195295|RCV000283856|RCV000873772; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126141370 | 126141370 | | | 11:g.126141370A>C | ClinGen:CA231125 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs749675822 | RCV000338795|RCV001859801; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126141438 | 126141438 | | | NC_000011.9:g.126141438G>A | ClinGen:CA6353999 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) | 55572 | FOXRED1 | Uncertain significance | rs768102112 | RCV000391412; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126141542 | 126141542 | | | NC_000011.9:g.126141542G>A | ClinGen:CA6354024 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs77785510 | RCV000298953|RCV000875510; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126141551 | 126141551 | | | NC_000011.9:g.126141551C>T | ClinGen:CA321386 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.307-14T>C | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs541684918 | RCV000602580|RCV001104334|RCV003117416; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126142850 | 126142850 | | | 11:g.126142850T>C | ClinGen:CA6354042 | CN169374 not specified; | |
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) | 55572 | FOXRED1 | Uncertain significance | rs1951030849 | RCV001104335; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126142875 | 126142875 | | | 11:g.126142875C>T | - | | |
NM_017547.4(FOXRED1):c.417+6T>C | 55572 | FOXRED1 | Uncertain significance | rs1951035111 | RCV001104336; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126142980 | 126142980 | | | 11:g.126142980T>C | - | | |
NM_017547.4(FOXRED1):c.417+10A>G | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs180800246 | RCV000873631|RCV001104337; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126142984 | 126142984 | | | 11:g.126142984A>G | - | | |
NM_017547.4(FOXRED1):c.418-1G>T | 55572 | FOXRED1 | Uncertain significance | rs771941278 | RCV000779052; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126143230 | 126143230 | | | NC_000011.9:g.126143230G>T | - | | |
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs34542988 | RCV000125153|RCV000353768|RCV000676597; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126143246 | 126143246 | | | NC_000011.9:g.126143246G>A | ClinGen:CA290958,UniProtKB:Q96CU9#VAR_033856 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs147235743 | RCV000200296|RCV000405671|RCV000873859; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126143248 | 126143248 | | | NC_000011.9:g.126143248C>T | ClinGen:CA324846 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) | 55572 | FOXRED1 | Uncertain significance | rs140745629 | RCV001104338; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126143270 | 126143270 | | | 11:g.126143270C>T | - | | |
NM_017547.4(FOXRED1):c.537-11G>A | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs199599636 | RCV000614185|RCV001107092|RCV002063291; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126144811 | 126144811 | | | 11:g.126144811G>A | ClinGen:CA6354126 | CN169374 not specified; | |
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) | 55572 | FOXRED1 | Uncertain significance | rs368843227 | RCV001107093|RCV001856435|RCV002555047; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 11 | 126144836 | 126144836 | | | 11:g.126144836A>G | - | | |
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) | 55572 | FOXRED1 | Uncertain significance | rs191604046 | RCV000314230; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126144865 | 126144865 | | | NC_000011.9:g.126144865C>T | ClinGen:CA6354135 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs398124308 | RCV000081797|RCV000190588|RCV000586362|RCV000778312|RCV001197098|RCV002513837; | N | MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032624,MedGen:C4748791,OMIM:618241|MeSH:D030342,MedGen:C0950123 | 11 | 126144895 | 126144896 | | | 11:g.126144895_126144896insGAGT | ClinGen:CA204560 | C0023264 256000 Leigh syndrome; | |
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) | 55572 | FOXRED1 | Uncertain significance | rs753106152 | RCV000366903|RCV002522187; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126145248 | 126145248 | | | NC_000011.9:g.126145248C>T | ClinGen:CA6354170 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) | 55572 | FOXRED1 | Uncertain significance | rs755831680 | RCV000272284; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126145252 | 126145252 | | | NC_000011.9:g.126145252G>T | ClinGen:CA10634102 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs146661281 | RCV000514034|RCV000763713; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 126145709 | 126145709 | | | 11:g.126145709C>T | ClinGen:CA6354204 | CN517202 not provided; | |
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) | 55572 | FOXRED1 | Uncertain significance | rs886047981 | RCV000308619; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126145976 | 126145976 | | | 11:g.126145976A>G | ClinGen:CA10638427 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) | 55572 | FOXRED1 | Uncertain significance | rs148955548 | RCV000363274; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126146000 | 126146000 | | | 11:g.126146000T>C | ClinGen:CA10630351 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) | 55572 | FOXRED1 | Uncertain significance | rs886047982 | RCV000268896; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126146030 | 126146030 | | | 11:g.126146030C>T | ClinGen:CA10630352 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs777315728 | RCV000324058|RCV002520696; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126146064 | 126146064 | | | NC_000011.9:g.126146064G>A | ClinGen:CA6354266 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) | 55572 | FOXRED1 | Uncertain significance | rs748195712 | RCV000378520; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126146095 | 126146095 | | | 11:g.126146095C>T | ClinGen:CA6354273 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs143739550 | RCV000125155|RCV000265385|RCV000874958; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126146337 | 126146337 | | | NC_000011.9:g.126146337G>C | ClinGen:CA290962 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) | 55572 | FOXRED1 | Uncertain significance | rs139029287 | RCV001107763|RCV002558079; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 11 | 126146985 | 126146985 | | | 11:g.126146985C>T | - | | |
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) | 55572 | FOXRED1 | Uncertain significance | rs751634994 | RCV000320572; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147002 | 126147002 | | | 11:g.126147002C>G | ClinGen:CA6354381 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs7116126 | RCV000125156|RCV000375172|RCV000676598; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147003 | 126147003 | | | NC_000011.9:g.126147003A>G | ClinGen:CA290964,UniProtKB:Q96CU9#VAR_051003 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) | 55572 | FOXRED1 | Uncertain significance | rs560953332 | RCV001107764; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147031 | 126147031 | | | 11:g.126147031C>T | - | | |
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs138061928 | RCV000199891|RCV000763714|RCV001107765; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147035 | 126147035 | | | NC_000011.9:g.126147035T>G | ClinGen:CA324443 | CN169374 not specified; | |
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) | 55572 | FOXRED1 | Uncertain significance | rs767749700 | RCV000280779|RCV000678791|RCV001859802; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002182,Human Phenotype Ontology: | 11 | 126147047 | 126147047 | | | 11:g.126147047G>T | ClinGen:CA6354390 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) | 55572 | FOXRED1 | Uncertain significance | rs1036245067 | RCV001104117; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147348 | 126147348 | | | 11:g.126147348G>A | - | | |
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) | 55572 | FOXRED1 | Uncertain significance | rs139086727 | RCV000591557|RCV001104118; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147501 | 126147501 | | | 11:g.126147501A>G | ClinGen:CA6354452 | CN169374 not specified; | |
NM_017547.4(FOXRED1):c.*71A>G | 55572 | FOXRED1 | Uncertain significance | rs763886127 | RCV001104119; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147655 | 126147655 | | | 11:g.126147655A>G | - | | |
NM_017547.4(FOXRED1):c.*85T>C | 55572 | FOXRED1 | Conflicting interpretations of pathogenicity | rs372575072 | RCV000335841|RCV001566519; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147669 | 126147669 | | | 11:g.126147669T>C | ClinGen:CA6354487 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*93G>A | 55572 | FOXRED1 | Likely benign | rs114082966 | RCV001104120|RCV001585981; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147677 | 126147677 | | | 11:g.126147677G>A | - | | |
NM_017547.4(FOXRED1):c.*113G>A | 55572 | FOXRED1 | Benign | rs667627 | RCV000371864|RCV001612955; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147697 | 126147697 | | | 11:g.126147697G>A | ClinGen:CA6354498 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*129C>G | 55572 | FOXRED1 | Benign | rs594318 | RCV000295162|RCV001711903; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147713 | 126147713 | | | 11:g.126147713C>G | ClinGen:CA6354500 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*159C>T | 55572 | FOXRED1 | Uncertain significance | rs570233921 | RCV000352350; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147743 | 126147743 | | | 11:g.126147743C>T | ClinGen:CA6354504 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*190T>C | 55572 | FOXRED1 | Benign/Likely benign | rs77902129 | RCV000392587|RCV001725159; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 126147774 | 126147774 | | | NC_000011.9:g.126147774T>C | ClinGen:CA6354512 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*211T>C | 55572 | FOXRED1 | Uncertain significance | rs1245337651 | RCV001104427; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147795 | 126147795 | | | 11:g.126147795T>C | - | | |
NM_017547.4(FOXRED1):c.*374T>G | 55572 | FOXRED1 | Uncertain significance | rs576196293 | RCV001104428; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147958 | 126147958 | | | 11:g.126147958T>G | - | | |
NM_017547.4(FOXRED1):c.*392G>A | 55572 | FOXRED1 | Uncertain significance | rs886047983 | RCV000312592; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126147976 | 126147976 | | | NC_000011.9:g.126147976G>A | ClinGen:CA10634103 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_017547.4(FOXRED1):c.*432T>G | 55572 | FOXRED1 | Uncertain significance | rs185024577 | RCV000346441; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 126148016 | 126148016 | | | NC_000011.9:g.126148016T>G | ClinGen:CA6354523 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_024407.5(NDUFS7):c.*13C>A | -1 | GAMT;NDUFS7 | Benign/Likely benign | rs11551663 | RCV000127159|RCV000335492|RCV000345055|RCV000390875|RCV001126906; | N | MedGen:CN169374|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736, Orphanet:382|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 1395500 | 1395500 | | | NC_000019.9:g.1395500C>A | ClinGen:CA292508 | C0574080 612736 Deficiency of guanidinoacetate methyltransferase; | |
NM_004544.4(NDUFA10):c.*3724G>A | 4705 | NDUFA10 | Uncertain significance | rs1694684016 | RCV001139463|RCV001139464; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240896811 | 240896811 | | | 2:g.240896811C>T | - | | |
NM_004544.4(NDUFA10):c.*3711A>G | 4705 | NDUFA10 | Uncertain significance | rs1466622883 | RCV001139465|RCV001139466; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240896824 | 240896824 | | | 2:g.240896824T>C | - | | |
NM_004544.4(NDUFA10):c.*3557G>A | 4705 | NDUFA10 | Uncertain significance | rs149933652 | RCV000282070|RCV000334827; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240896978 | 240896978 | | | NC_000002.11:g.240896978C>T | ClinGen:CA10613222 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3544C>T | 4705 | NDUFA10 | Benign/Likely benign | rs114944621 | RCV001140238|RCV001140237; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240896991 | 240896991 | | | 2:g.240896991G>A | - | | |
NM_004544.4(NDUFA10):c.*3490G>C | 4705 | NDUFA10 | Uncertain significance | rs1694693520 | RCV001140239|RCV001140240; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897045 | 240897045 | | | 2:g.240897045C>G | - | | |
NM_004544.4(NDUFA10):c.*3456T>G | 4705 | NDUFA10 | Uncertain significance | rs1694694826 | RCV001140241|RCV001140242; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897079 | 240897079 | | | 2:g.240897079A>C | - | | |
NM_004544.4(NDUFA10):c.*3450G>A | 4705 | NDUFA10 | Benign | rs7573892 | RCV000313749|RCV000407125; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897085 | 240897085 | | | NC_000002.11:g.240897085C>T | ClinGen:CA10612853 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3409G>A | 4705 | NDUFA10 | Uncertain significance | rs146483651 | RCV001142082|RCV001142083; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897126 | 240897126 | | | 2:g.240897126C>T | - | | |
NM_004544.4(NDUFA10):c.*3408T>C | 4705 | NDUFA10 | Uncertain significance | rs886055810 | RCV000370283|RCV000405985; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897127 | 240897127 | | | NC_000002.11:g.240897127A>G | ClinGen:CA10614904 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3403A>G | 4705 | NDUFA10 | Uncertain significance | rs1574807018 | RCV001137325|RCV001137326; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897132 | 240897132 | | | 2:g.240897132T>C | - | | |
NM_004544.4(NDUFA10):c.*3349G>A | 4705 | NDUFA10 | Benign/Likely benign | rs77216981 | RCV000312144|RCV000364536; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897186 | 240897186 | | | NC_000002.11:g.240897186C>T | ClinGen:CA10612854 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3347C>T | 4705 | NDUFA10 | Uncertain significance | rs537694779 | RCV001137328|RCV001137327; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897188 | 240897188 | | | 2:g.240897188G>A | - | | |
NM_004544.4(NDUFA10):c.*3301C>T | 4705 | NDUFA10 | Uncertain significance | rs1694700570 | RCV001137330|RCV001137329; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897234 | 240897234 | | | 2:g.240897234G>A | - | | |
NM_004544.4(NDUFA10):c.*3205G>A | 4705 | NDUFA10 | Uncertain significance | rs886055811 | RCV000272597|RCV000325291; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897330 | 240897330 | | | NC_000002.11:g.240897330C>T | ClinGen:CA10613224 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3204C>T | 4705 | NDUFA10 | Benign | rs34277046 | RCV000266639|RCV000363605; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897331 | 240897331 | | | NC_000002.11:g.240897331G>A | ClinGen:CA10613230 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3175T>G | 4705 | NDUFA10 | Uncertain significance | rs1694704488 | RCV001139559|RCV001139560; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897360 | 240897360 | | | 2:g.240897360A>C | - | | |
NM_004544.4(NDUFA10):c.*3143C>T | 4705 | NDUFA10 | Uncertain significance | rs1357789210 | RCV001139562|RCV001139561; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897392 | 240897392 | | | 2:g.240897392G>A | - | | |
NM_004544.4(NDUFA10):c.*3141C>T | 4705 | NDUFA10 | Uncertain significance | rs144864637 | RCV000321071|RCV000378087; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897394 | 240897394 | | | NC_000002.11:g.240897394G>A | ClinGen:CA10613239 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3113G>A | 4705 | NDUFA10 | Uncertain significance | rs886055812 | RCV000281251|RCV000319847; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897422 | 240897422 | | | 2:g.240897422C>T | ClinGen:CA10613244 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3098A>T | 4705 | NDUFA10 | Uncertain significance | rs886055813 | RCV000279849|RCV000372049; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897437 | 240897437 | | | 2:g.240897437T>A | ClinGen:CA10614704 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3095A>G | 4705 | NDUFA10 | Uncertain significance | rs576198967 | RCV001140329|RCV001140328; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897440 | 240897440 | | | 2:g.240897440T>C | - | | |
NM_004544.4(NDUFA10):c.*3075T>G | 4705 | NDUFA10 | Benign/Likely benign | rs7588974 | RCV000351219|RCV000408158; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897460 | 240897460 | | | 2:g.240897460A>C | ClinGen:CA10614905 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3067C>T | 4705 | NDUFA10 | Uncertain significance | rs564992184 | RCV000293130|RCV000350383; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897468 | 240897468 | | | 2:g.240897468G>A | ClinGen:CA10612855 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*3052G>A | 4705 | NDUFA10 | Uncertain significance | rs1003876097 | RCV001142177|RCV001142176; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897483 | 240897483 | | | 2:g.240897483C>T | - | | |
NM_004544.4(NDUFA10):c.*3009T>C | 4705 | NDUFA10 | Uncertain significance | rs1694711139 | RCV001142178|RCV001142179; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897526 | 240897526 | | | 2:g.240897526A>G | - | | |
NM_004544.4(NDUFA10):c.*2997G>A | 4705 | NDUFA10 | Uncertain significance | rs886055814 | RCV000310655|RCV000408151; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897538 | 240897538 | | | 2:g.240897538C>T | ClinGen:CA10614906 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2900G>A | 4705 | NDUFA10 | Uncertain significance | rs752124492 | RCV001137439|RCV001137438; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897635 | 240897635 | | | 2:g.240897635C>T | - | | |
NM_004544.4(NDUFA10):c.*2838C>A | 4705 | NDUFA10 | Uncertain significance | rs532456176 | RCV001137440|RCV001137441; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897697 | 240897697 | | | 2:g.240897697G>T | - | | |
NM_004544.4(NDUFA10):c.*2685C>A | 4705 | NDUFA10 | Uncertain significance | rs114807372 | RCV000363196|RCV000403818; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897850 | 240897850 | | | 2:g.240897850G>T | ClinGen:CA10613246 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2659A>C | 4705 | NDUFA10 | Uncertain significance | rs559550890 | RCV001139659|RCV001139658; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897876 | 240897876 | | | 2:g.240897876T>G | - | | |
NM_004544.4(NDUFA10):c.*2649G>A | 4705 | NDUFA10 | Uncertain significance | rs886055815 | RCV000305026|RCV000362023; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897886 | 240897886 | | | 2:g.240897886C>T | ClinGen:CA10612857 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2648C>T | 4705 | NDUFA10 | Uncertain significance | rs953906857 | RCV001139661|RCV001139660; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240897887 | 240897887 | | | 2:g.240897887G>A | - | | |
NM_004544.4(NDUFA10):c.*2602C>T | 4705 | NDUFA10 | Benign | rs58261980 | RCV000263944|RCV000321470; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240897933 | 240897933 | | | 2:g.240897933G>A | ClinGen:CA10614926 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2511C>T | 4705 | NDUFA10 | Benign/Likely benign | rs74540213 | RCV001140420|RCV001140421; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898024 | 240898024 | | | 2:g.240898024G>A | - | | |
NM_004544.4(NDUFA10):c.*2495C>T | 4705 | NDUFA10 | Benign/Likely benign | rs78395168 | RCV000263762|RCV000355304; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898040 | 240898040 | | | 2:g.240898040G>A | ClinGen:CA10613250 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2455C>G | 4705 | NDUFA10 | Uncertain significance | rs756778773 | RCV001140423|RCV001140422; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898080 | 240898080 | | | 2:g.240898080G>C | - | | |
NM_004544.4(NDUFA10):c.*2382C>A | 4705 | NDUFA10 | Uncertain significance | rs1289543938 | RCV001140424|RCV001140425; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898153 | 240898153 | | | 2:g.240898153G>T | - | | |
NM_004544.4(NDUFA10):c.*2350G>A | 4705 | NDUFA10 | Uncertain significance | rs1218747092 | RCV001142284|RCV001142283; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898185 | 240898185 | | | 2:g.240898185C>T | - | | |
NM_004544.4(NDUFA10):c.*2309G>A | 4705 | NDUFA10 | Benign | rs1132778 | RCV000276578|RCV000334028|RCV001636938; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240898226 | 240898226 | | | 2:g.240898226C>T | ClinGen:CA10614930 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2297T>G | 4705 | NDUFA10 | Uncertain significance | rs773090030 | RCV000294050|RCV000386093; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898238 | 240898238 | | | 2:g.240898238A>C | ClinGen:CA10613251 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2242T>C | 4705 | NDUFA10 | Uncertain significance | rs111969519 | RCV001142286|RCV001142285; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898293 | 240898293 | | | 2:g.240898293A>G | - | | |
NM_004544.4(NDUFA10):c.*2202C>T | 4705 | NDUFA10 | Benign/Likely benign | rs77614498 | RCV001137544|RCV001137543; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898333 | 240898333 | | | 2:g.240898333G>A | - | | |
NM_004544.4(NDUFA10):c.*2192T>A | 4705 | NDUFA10 | Uncertain significance | rs886055817 | RCV000346747|RCV000384939; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898343 | 240898343 | | | 2:g.240898343A>T | ClinGen:CA10612858 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2149C>T | 4705 | NDUFA10 | Uncertain significance | rs570872300 | RCV000288049|RCV000345362; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898386 | 240898386 | | | 2:g.240898386G>A | ClinGen:CA10614932 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2136T>C | 4705 | NDUFA10 | Uncertain significance | rs943989946 | RCV001137546|RCV001137545; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898399 | 240898399 | | | 2:g.240898399A>G | - | | |
NM_004544.4(NDUFA10):c.*2133A>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs6736791 | RCV001139764|RCV001139765|RCV002221610; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240898402 | 240898402 | | | 2:g.240898402T>C | - | | |
NM_004544.4(NDUFA10):c.*2111G>A | 4705 | NDUFA10 | Uncertain significance | rs752139055 | RCV000305816|RCV000392087; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898424 | 240898424 | | | 2:g.240898424C>T | ClinGen:CA10612861 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2079A>G | 4705 | NDUFA10 | Uncertain significance | rs1574808891 | RCV001139766|RCV001139767; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898456 | 240898456 | | | 2:g.240898456T>C | - | | |
NM_004544.4(NDUFA10):c.*2046T>C | 4705 | NDUFA10 | Uncertain significance | rs1694740787 | RCV001139768|RCV001139769; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898489 | 240898489 | | | 2:g.240898489A>G | - | | |
NM_004544.4(NDUFA10):c.*2042A>C | 4705 | NDUFA10 | Uncertain significance | rs886055818 | RCV000340471|RCV000405302; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898493 | 240898493 | | | 2:g.240898493T>G | ClinGen:CA10614936 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*2009G>C | 4705 | NDUFA10 | Uncertain significance | rs370309206 | RCV001140535|RCV001140536; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898526 | 240898526 | | | 2:g.240898526C>G | - | | |
NM_004544.4(NDUFA10):c.*1992C>T | 4705 | NDUFA10 | Uncertain significance | rs373034894 | RCV001140538|RCV001140537; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898543 | 240898543 | | | 2:g.240898543G>A | - | | |
NM_004544.4(NDUFA10):c.*1957G>A | 4705 | NDUFA10 | Benign | rs4854069 | RCV000300653|RCV000353226|RCV001709606; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240898578 | 240898578 | | | NC_000002.11:g.240898578C>T | ClinGen:CA10614942 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1943A>G | 4705 | NDUFA10 | Uncertain significance | rs148829605 | RCV001142382|RCV001142383; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898592 | 240898592 | | | 2:g.240898592T>C | - | | |
NM_004544.4(NDUFA10):c.*1930C>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs535714073 | RCV001142384|RCV001142385; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898605 | 240898605 | | | 2:g.240898605G>C | - | | |
NM_004544.4(NDUFA10):c.*1927G>C | 4705 | NDUFA10 | Uncertain significance | rs1227609332 | RCV001142386|RCV001142387; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898608 | 240898608 | | | 2:g.240898608C>G | - | | |
NM_004544.4(NDUFA10):c.*1915G>A | 4705 | NDUFA10 | Uncertain significance | rs144590599 | RCV000273905|RCV000370813; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898620 | 240898620 | | | NC_000002.11:g.240898620C>T | ClinGen:CA10614713 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1884G>C | 4705 | NDUFA10 | Uncertain significance | rs886055820 | RCV000272672|RCV000325365; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898651 | 240898651 | | | NC_000002.11:g.240898651C>G | ClinGen:CA10614953 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1879G>A | 4705 | NDUFA10 | Uncertain significance | rs143421241 | RCV001137641|RCV001137642; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898656 | 240898656 | | | 2:g.240898656C>T | - | | |
NM_004544.4(NDUFA10):c.*1878C>T | 4705 | NDUFA10 | Benign/Likely benign | rs80067639 | RCV001137644|RCV001137643|RCV001785787; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240898657 | 240898657 | | | 2:g.240898657G>A | - | | |
NM_004544.4(NDUFA10):c.*1709T>C | 4705 | NDUFA10 | Uncertain significance | rs562457080 | RCV001139859|RCV001139860; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898826 | 240898826 | | | 2:g.240898826A>G | - | | |
NM_004544.4(NDUFA10):c.*1702G>A | 4705 | NDUFA10 | Uncertain significance | rs1694755462 | RCV001139861|RCV001139862; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898833 | 240898833 | | | 2:g.240898833C>T | - | | |
NM_004544.4(NDUFA10):c.*1665C>A | 4705 | NDUFA10 | Uncertain significance | rs1314058965 | RCV001139863|RCV001139864; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898870 | 240898870 | | | 2:g.240898870G>T | - | | |
NM_004544.4(NDUFA10):c.*1594G>A | 4705 | NDUFA10 | Uncertain significance | rs773071160 | RCV001139865|RCV001139866; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240898941 | 240898941 | | | 2:g.240898941C>T | - | | |
NM_004544.4(NDUFA10):c.*1586A>G | 4705 | NDUFA10 | Uncertain significance | rs1483288404 | RCV001140643|RCV001140644; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240898949 | 240898949 | | | 2:g.240898949T>C | - | | |
NM_004544.4(NDUFA10):c.*1486C>T | 4705 | NDUFA10 | Uncertain significance | rs746931112 | RCV001140645|RCV001140646; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899049 | 240899049 | | | 2:g.240899049G>A | - | | |
NM_004544.4(NDUFA10):c.*1482C>G | 4705 | NDUFA10 | Uncertain significance | rs557576958 | RCV001140648|RCV001140647; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899053 | 240899053 | | | 2:g.240899053G>C | - | | |
NM_004544.4(NDUFA10):c.*1453G>A | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs192964209 | RCV001140649|RCV001140650; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899082 | 240899082 | | | 2:g.240899082C>T | - | | |
NM_004544.4(NDUFA10):c.*1391C>T | 4705 | NDUFA10 | Uncertain significance | rs552149779 | RCV001142515|RCV001142516; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899144 | 240899144 | | | 2:g.240899144G>A | - | | |
NM_004544.4(NDUFA10):c.*1382C>T | 4705 | NDUFA10 | Benign/Likely benign | rs111337344 | RCV001142518|RCV001142517; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899153 | 240899153 | | | 2:g.240899153G>A | - | | |
NM_004544.4(NDUFA10):c.*1303C>T | 4705 | NDUFA10 | Uncertain significance | rs575940810 | RCV001142520|RCV001142519; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899232 | 240899232 | | | 2:g.240899232G>A | - | | |
NM_004544.4(NDUFA10):c.*1262C>T | 4705 | NDUFA10 | Uncertain significance | rs759194775 | RCV000285514|RCV000382246; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899273 | 240899273 | | | NC_000002.11:g.240899273G>A | ClinGen:CA10612863 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1245G>A | 4705 | NDUFA10 | Uncertain significance | rs187916829 | RCV001137751|RCV001137752; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899290 | 240899290 | | | 2:g.240899290C>T | - | | |
NM_004544.4(NDUFA10):c.*1229C>G | 4705 | NDUFA10 | Benign | rs55998047 | RCV000342719|RCV000376401; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899306 | 240899306 | | | NC_000002.11:g.240899306G>C | ClinGen:CA10613252 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1217A>G | 4705 | NDUFA10 | Benign/Likely benign | rs116403651 | RCV001137753|RCV001137754; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899318 | 240899318 | | | 2:g.240899318T>C | - | | |
NM_004544.4(NDUFA10):c.*1214C>T | 4705 | NDUFA10 | Uncertain significance | rs546735567 | RCV000284687|RCV000337345; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899321 | 240899321 | | | NC_000002.11:g.240899321G>A | ClinGen:CA10613256 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1212T>C | 4705 | NDUFA10 | Uncertain significance | rs886055821 | RCV000297697|RCV000407435; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899323 | 240899323 | | | NC_000002.11:g.240899323A>G | ClinGen:CA10613258 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1206G>A | 4705 | NDUFA10 | Uncertain significance | rs192203978 | RCV001139991|RCV001139992; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899329 | 240899329 | | | 2:g.240899329C>T | - | | |
NM_004544.4(NDUFA10):c.*1198G>A | 4705 | NDUFA10 | Uncertain significance | rs143353868 | RCV001139993|RCV001139994; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899337 | 240899337 | | | 2:g.240899337C>T | - | | |
NM_004544.4(NDUFA10):c.*1189C>T | 4705 | NDUFA10 | Benign | rs66534347 | RCV000336034|RCV000407422; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899346 | 240899346 | | | NC_000002.11:g.240899346G>A | ClinGen:CA10613259 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1161C>T | 4705 | NDUFA10 | Uncertain significance | rs184925264 | RCV001140749|RCV001140748; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899374 | 240899374 | | | 2:g.240899374G>A | - | | |
NM_004544.4(NDUFA10):c.*1129G>A | 4705 | NDUFA10 | Uncertain significance | rs886055822 | RCV000315183|RCV000367481; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899406 | 240899406 | | | NC_000002.11:g.240899406C>T | ClinGen:CA10613260 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*1124C>T | 4705 | NDUFA10 | Uncertain significance | rs754187471 | RCV001140750|RCV001140751; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899411 | 240899411 | | | 2:g.240899411G>A | - | | |
NM_004544.4(NDUFA10):c.*1057T>G | 4705 | NDUFA10 | Uncertain significance | rs541016943 | RCV001140752|RCV001140753; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899478 | 240899478 | | | 2:g.240899478A>C | - | | |
NM_004544.4(NDUFA10):c.*1047T>C | 4705 | NDUFA10 | Uncertain significance | rs1694787943 | RCV001142614|RCV001142615; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899488 | 240899488 | | | 2:g.240899488A>G | - | | |
NM_004544.4(NDUFA10):c.*1011A>G | 4705 | NDUFA10 | Uncertain significance | rs575477219 | RCV000275465|RCV000309561; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899524 | 240899524 | | | NC_000002.11:g.240899524T>C | ClinGen:CA10613265 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*925C>G | 4705 | NDUFA10 | Uncertain significance | rs149563558 | RCV000269623|RCV000366444; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899610 | 240899610 | | | NC_000002.11:g.240899610G>C | ClinGen:CA10613267 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*861C>G | 4705 | NDUFA10 | Uncertain significance | rs551167199 | RCV001142616|RCV001142617; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899674 | 240899674 | | | 2:g.240899674G>C | - | | |
NM_004544.4(NDUFA10):c.*857G>C | 4705 | NDUFA10 | Uncertain significance | rs1303822860 | RCV001137858|RCV001137859; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899678 | 240899678 | | | 2:g.240899678C>G | - | | |
NM_004544.4(NDUFA10):c.*804T>C | 4705 | NDUFA10 | Uncertain significance | rs1422021026 | RCV001137860|RCV001137861; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899731 | 240899731 | | | 2:g.240899731A>G | - | | |
NM_004544.4(NDUFA10):c.*765C>T | 4705 | NDUFA10 | Uncertain significance | rs144208727 | RCV001137862|RCV001137863; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899770 | 240899770 | | | 2:g.240899770G>A | - | | |
NM_004544.4(NDUFA10):c.*740C>T | 4705 | NDUFA10 | Uncertain significance | rs886055823 | RCV000327138|RCV000360871; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899795 | 240899795 | | | NC_000002.11:g.240899795G>A | ClinGen:CA10613269 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*732T>G | 4705 | NDUFA10 | Uncertain significance | rs1349086163 | RCV001140107|RCV001140108; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899803 | 240899803 | | | 2:g.240899803A>C | - | | |
NM_004544.4(NDUFA10):c.*679A>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs374065697 | RCV001140109|RCV001140110; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899856 | 240899856 | | | 2:g.240899856T>C | - | | |
NM_004544.4(NDUFA10):c.*647C>T | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs116254382 | RCV000268599|RCV000321400|RCV001797082; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240899888 | 240899888 | | | NC_000002.11:g.240899888G>A | ClinGen:CA10613273 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*632G>A | 4705 | NDUFA10 | Uncertain significance | rs189306598 | RCV001140111|RCV001140112; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899903 | 240899903 | | | 2:g.240899903C>T | - | | |
NM_004544.4(NDUFA10):c.*631C>T | 4705 | NDUFA10 | Benign | rs10933622 | RCV000279152|RCV000373766|RCV001597101; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240899904 | 240899904 | | | NC_000002.11:g.240899904G>A | ClinGen:CA10614715 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*548G>C | 4705 | NDUFA10 | Uncertain significance | rs1694810369 | RCV001140872|RCV001140873; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240899987 | 240899987 | | | 2:g.240899987C>G | - | | |
NM_004544.4(NDUFA10):c.*546G>A | 4705 | NDUFA10 | Uncertain significance | rs192485848 | RCV000320098|RCV000374741; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240899989 | 240899989 | | | NC_000002.11:g.240899989C>T | ClinGen:CA10612864 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*489A>G | 4705 | NDUFA10 | Uncertain significance | rs886055824 | RCV000294263|RCV000349229; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900046 | 240900046 | | | NC_000002.11:g.240900046T>C | ClinGen:CA10614722 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*445C>G | 4705 | NDUFA10 | Uncertain significance | rs563264912 | RCV001142721|RCV001142720; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900090 | 240900090 | | | 2:g.240900090G>C | - | | |
NM_004544.4(NDUFA10):c.*438C>T | 4705 | NDUFA10 | Benign | rs13396556 | RCV000295440|RCV000408270|RCV001672575; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240900097 | 240900097 | | | NC_000002.11:g.240900097G>A | ClinGen:CA10614954 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*435A>G | 4705 | NDUFA10 | Uncertain significance | rs1054245819 | RCV001142722|RCV001142723; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900100 | 240900100 | | | 2:g.240900100T>C | - | | |
NM_004544.4(NDUFA10):c.*428C>T | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs557106858 | RCV001142724|RCV001142725; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900107 | 240900107 | | | 2:g.240900107G>A | - | | |
NM_004544.4(NDUFA10):c.*414G>A | 4705 | NDUFA10 | Benign | rs13424612 | RCV000345516|RCV000408266|RCV001672576; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240900121 | 240900121 | | | NC_000002.11:g.240900121C>T | ClinGen:CA10614955 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*412A>G | 4705 | NDUFA10 | Uncertain significance | rs546052985 | RCV000310551|RCV000365252; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900123 | 240900123 | | | NC_000002.11:g.240900123T>C | ClinGen:CA10612865 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*407C>T | 4705 | NDUFA10 | Benign/Likely benign | rs74614612 | RCV000302356|RCV000405266; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900128 | 240900128 | | | NC_000002.11:g.240900128G>A | ClinGen:CA10614960 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*396C>G | 4705 | NDUFA10 | Benign/Likely benign | rs73103629 | RCV001137976|RCV001137977|RCV001786442; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240900139 | 240900139 | | | 2:g.240900139G>C | - | | |
NM_004544.4(NDUFA10):c.*372C>T | 4705 | NDUFA10 | Uncertain significance | rs143693330 | RCV001138393|RCV001138394; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900163 | 240900163 | | | 2:g.240900163G>A | - | | |
NM_004544.4(NDUFA10):c.*361A>G | 4705 | NDUFA10 | Uncertain significance | rs778261754 | RCV000317150|RCV000353317; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900174 | 240900174 | | | NC_000002.11:g.240900174T>C | ClinGen:CA10614724 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*308C>T | 4705 | NDUFA10 | Benign | rs8369 | RCV000263165|RCV000318301|RCV001672577; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240900227 | 240900227 | | | NC_000002.11:g.240900227G>A | ClinGen:CA10612868 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.*183C>T | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs112660586 | RCV001138395|RCV001138396; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900352 | 240900352 | | | 2:g.240900352G>A | - | | |
NM_004544.4(NDUFA10):c.*105G>A | 4705 | NDUFA10 | Uncertain significance | rs886055825 | RCV000292644|RCV000386938; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900430 | 240900430 | | | NC_000002.11:g.240900430C>T | ClinGen:CA10613274 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) | 4705 | NDUFA10 | Uncertain significance | rs201449418 | RCV001140972|RCV001545378|RCV001140973; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240900593 | 240900593 | | | 2:g.240900593C>T | - | | |
NM_004544.4(NDUFA10):c.1000-3C>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs199648872 | RCV000199808|RCV000333603|RCV000388170; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240900606 | 240900606 | | | 2:g.240900606G>C | ClinGen:CA324354 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) | 4705 | NDUFA10 | Uncertain significance | rs758042753 | RCV001140974|RCV001140975; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240929496 | 240929496 | | | 2:g.240929496T>C | - | | |
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) | 4705 | NDUFA10 | Uncertain significance | rs1188020120 | RCV001142820|RCV001142821|RCV002032355; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240929505 | 240929505 | | | 2:g.240929505G>A | - | | |
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) | 4705 | NDUFA10 | Uncertain significance | rs1222086753 | RCV001142822|RCV001142823; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240929565 | 240929565 | | | 2:g.240929565T>C | - | | |
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) | 4705 | NDUFA10 | Uncertain significance | rs762669820 | RCV000290264|RCV000401972|RCV002519956; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240944652 | 240944652 | | | NC_000002.11:g.240944652G>A | ClinGen:CA2200827 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) | 4705 | NDUFA10 | Benign | rs13848 | RCV000117700|RCV000340422|RCV000392330|RCV000676555|RCV001778731; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 | 2 | 240946766 | 240946766 | | | 2:g.240946766T>C | ClinGen:CA153845 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.749+5G>A | 4705 | NDUFA10 | Uncertain significance | rs1697147446 | RCV001138075|RCV001138076; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240951029 | 240951029 | | | 2:g.240951029C>T | - | | |
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) | 4705 | NDUFA10 | Benign/Likely benign | rs35462421 | RCV000127101|RCV000514175|RCV000987070|RCV001138077|RCV002492481; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 | 2 | 240951071 | 240951071 | | | 2:g.240951071C>T | ClinGen:CA292421 | CN517202 not provided; | |
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs148656779 | RCV001138079|RCV001138078|RCV002070620; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240954195 | 240954195 | | | 2:g.240954195G>A | - | | |
NM_004544.4(NDUFA10):c.558C>T (p.His186=) | 4705 | NDUFA10 | Uncertain significance | rs1407750102 | RCV001138080|RCV001138081; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240954267 | 240954267 | | | 2:g.240954267G>A | - | | |
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs149783296 | RCV000301141|RCV000392325|RCV000613561|RCV002519957; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 2 | 240954276 | 240954276 | | | NC_000002.11:g.240954276A>G | ClinGen:CA2200958 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.548-9A>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs147876332 | RCV000127100|RCV000275112|RCV000355965|RCV000676557; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240954286 | 240954286 | | | 2:g.240954286T>C | ClinGen:CA292420 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) | 4705 | NDUFA10 | Uncertain significance | rs759587515 | RCV001138504|RCV001138505; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240957988 | 240957988 | | | 2:g.240957988C>T | - | | |
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) | 4705 | NDUFA10 | Uncertain significance | rs1559403435 | RCV001138507|RCV001138506; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240958033 | 240958033 | | | 2:g.240958033A>G | - | | |
NM_004544.4(NDUFA10):c.460+5A>G | 4705 | NDUFA10 | Uncertain significance | rs1158773739 | RCV001141065|RCV001141066; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240960609 | 240960609 | | | 2:g.240960609T>C | - | | |
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs140776586 | RCV000200645|RCV001141067|RCV001141068|RCV002470809; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 | 2 | 240960670 | 240960670 | | | 2:g.240960670A>G | ClinGen:CA325234 | CN169374 not specified; | |
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) | 4705 | NDUFA10 | Uncertain significance | rs749199433 | RCV001141069|RCV001141070; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240960711 | 240960711 | | | 2:g.240960711C>T | - | | |
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs118106981 | RCV001141071|RCV001141072|RCV002285448; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 240960720 | 240960720 | | | 2:g.240960720G>A | - | | |
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) | 4705 | NDUFA10 | Uncertain significance | rs770747594 | RCV000311748|RCV000371039; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240960804 | 240960804 | | | NC_000002.11:g.240960804C>T | ClinGen:CA2201102 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) | 4705 | NDUFA10 | Benign/Likely benign | rs35715497 | RCV000195637|RCV000892540|RCV001142921|RCV001142922; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240961639 | 240961639 | | | NC_000002.11:g.240961639T>C | ClinGen:CA320001 | CN169374 not specified; | |
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) | 4705 | NDUFA10 | Uncertain significance | rs558134843 | RCV001142923|RCV001142924; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240961723 | 240961723 | | | 2:g.240961723C>A | - | | |
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) | 4705 | NDUFA10 | Benign | rs2083411 | RCV000117699|RCV000276426|RCV000326842|RCV000676559|RCV001778730; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243 | 2 | 240961728 | 240961728 | | | 2:g.240961728T>C | ClinGen:CA153843 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) | 4705 | NDUFA10 | Uncertain significance | rs980893132 | RCV001138191|RCV001138190; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240964656 | 240964656 | | | 2:g.240964656G>C | - | | |
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) | 4705 | NDUFA10 | Uncertain significance | rs928084265 | RCV001138192|RCV001138193; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240964678 | 240964678 | | | 2:g.240964678G>C | - | | |
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) | 4705 | NDUFA10 | Uncertain significance | rs1258770997 | RCV001138194|RCV001138195; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240964690 | 240964690 | | | 2:g.240964690G>A | - | | |
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) | 4705 | NDUFA10 | Benign | rs113012830 | RCV000173349|RCV000273080|RCV000381649|RCV000966149; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 240964695 | 240964695 | | | 2:g.240964695C>T | ClinGen:CA302697 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) | 4705 | NDUFA10 | Benign | rs11541494 | RCV000328287|RCV000378198|RCV000383086|RCV000676560; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 2 | 240964714 | 240964714 | | | 2:g.240964714G>C | ClinGen:CA2201190,UniProtKB:O95299#VAR_034149 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.-34C>T | 4705 | NDUFA10 | Uncertain significance | rs920826583 | RCV001138618|RCV001138617; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240964752 | 240964752 | | | 2:g.240964752G>A | - | | |
NM_004544.4(NDUFA10):c.-36C>T | 4705 | NDUFA10 | Uncertain significance | rs886055826 | RCV000283761|RCV000343470; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 240964754 | 240964754 | | | NC_000002.11:g.240964754G>A | ClinGen:CA10614725 | C0023264 256000 Leigh syndrome; | |
NM_004544.4(NDUFA10):c.-38T>G | 4705 | NDUFA10 | Conflicting interpretations of pathogenicity | rs374970309 | RCV000200045|RCV001141189|RCV001141188; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 240964756 | 240964756 | | | NC_000002.11:g.240964756A>C | ClinGen:CA324598 | CN169374 not specified; | |
NM_175614.5(NDUFA11):c.*63G>A | 126328 | NDUFA11 | Uncertain significance | rs749166288 | RCV001133935; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5894690 | 5894690 | | | 19:g.5894690C>T | - | | |
NM_175614.5(NDUFA11):c.*59C>G | 126328 | NDUFA11 | Uncertain significance | rs191571307 | RCV000321494; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5894694 | 5894694 | | | NC_000019.9:g.5894694G>C | ClinGen:CA9118876 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.*55G>C | 126328 | NDUFA11 | Uncertain significance | rs771648754 | RCV000378538; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5894698 | 5894698 | | | NC_000019.9:g.5894698C>G | ClinGen:CA10652804 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) | 126328 | NDUFA11 | Conflicting interpretations of pathogenicity | rs536499962 | RCV000926141|RCV001133936; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5894834 | 5894834 | | | 19:g.5894834G>A | - | | |
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) | 126328 | NDUFA11 | Conflicting interpretations of pathogenicity | rs199842745 | RCV000197389|RCV000765475; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5896466 | 5896466 | | | NC_000019.9:g.5896466C>A | ClinGen:CA321842 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) | 126328 | NDUFA11 | Uncertain significance | rs941748424 | RCV001135432; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5896489 | 5896489 | | | 19:g.5896489G>A | - | | |
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) | 126328 | NDUFA11 | Uncertain significance | rs1345378776 | RCV001135433; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5896543 | 5896543 | | | 19:g.5896543G>A | - | | |
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) | 126328 | NDUFA11 | Uncertain significance | rs886054647 | RCV000325113; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5896544 | 5896544 | | | NC_000019.9:g.5896544G>A | ClinGen:CA10652263 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) | 126328 | NDUFA11 | Uncertain significance | rs774174896 | RCV001330535|RCV001863224; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 5896572 | 5896572 | | | 5896572 | - | | |
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) | 126328 | NDUFA11 | Conflicting interpretations of pathogenicity | rs138889960 | RCV000382120|RCV000914175; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 5896968 | 5896968 | | | 19:g.5896968C>T | ClinGen:CA322939 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) | 126328 | NDUFA11 | Uncertain significance | rs2057614252 | RCV001135434; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5897002 | 5897002 | | | 19:g.5897002G>C | - | | |
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) | 126328 | NDUFA11 | Uncertain significance | rs1192917919 | RCV001135435; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903656 | 5903656 | | | 19:g.5903656C>A | - | | |
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) | 126328 | NDUFA11 | Conflicting interpretations of pathogenicity | rs146562956 | RCV000127107|RCV000756412|RCV001135436; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903672 | 5903672 | | | NC_000019.9:g.5903672G>A | ClinGen:CA292428 | CN169374 not specified; | |
NM_175614.5(NDUFA11):c.-31G>A | 126328 | NDUFA11 | Uncertain significance | rs886054648 | RCV000290662; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903750 | 5903750 | | | NC_000019.9:g.5903750C>T | ClinGen:CA10649160 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.5(NDUFA11):c.-51T>G | 126328 | NDUFA11 | Uncertain significance | rs886054649 | RCV000347902; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903770 | 5903770 | | | NC_000019.9:g.5903770A>C | ClinGen:CA10649162 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-83G>C | 126328 | NDUFA11 | Uncertain significance | rs562075121 | RCV000386066; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903802 | 5903802 | | | NC_000019.9:g.5903802C>G | ClinGen:CA9119071 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-88C>A | 126328 | NDUFA11 | Benign | rs8108064 | RCV000294085|RCV001613069; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 5903807 | 5903807 | | | NC_000019.9:g.5903807G>T | ClinGen:CA9119073 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-143C>G | 126328 | NDUFA11 | Uncertain significance | rs550697802 | RCV000351225; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903862 | 5903862 | | | NC_000019.9:g.5903862G>C | ClinGen:CA9119077 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-210T>C | 126328 | NDUFA11 | Uncertain significance | rs886054650 | RCV000297568; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903929 | 5903929 | | | NC_000019.9:g.5903929A>G | ClinGen:CA10649164 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-217A>G | 126328 | NDUFA11 | Benign | rs1056987 | RCV000336107|RCV001712053; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 5903936 | 5903936 | | | NC_000019.9:g.5903936T>C | ClinGen:CA9119086 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-234T>C | 126328 | NDUFA11 | Likely benign | rs115530541 | RCV000408273; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5903953 | 5903953 | | | 19:g.5903953A>G | ClinGen:CA9119089 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_175614.4(NDUFA11):c.-282T>C | 126328 | NDUFA11 | Uncertain significance | rs779432735 | RCV001131101; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 5904001 | 5904001 | | | 19:g.5904001A>G | - | | |
NM_175614.4(NDUFA11):c.-300G>A | 126328 | NDUFA11 | Conflicting interpretations of pathogenicity | rs563822139 | RCV000301439|RCV001770263; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 5904019 | 5904019 | | | 19:g.5904019C>T | ClinGen:CA9119093 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) | 4695 | NDUFA2 | Uncertain significance | rs79526416 | RCV000360340|RCV002523509; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 140026858 | 140026858 | | | NC_000005.9:g.140026858T>C | ClinGen:CA3442497 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) | 4695 | NDUFA2 | Uncertain significance | rs200255683 | RCV000259757; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140026872 | 140026872 | | | NC_000005.9:g.140026872G>A | ClinGen:CA3442500 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) | 4695 | NDUFA2 | Uncertain significance | rs745399748 | RCV000298528; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140026914 | 140026914 | | | NC_000005.9:g.140026914C>T | ClinGen:CA3442509 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) | 4695 | NDUFA2 | Conflicting interpretations of pathogenicity | rs35672074 | RCV000127109|RCV000441489|RCV001155276; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027129 | 140027129 | | | NC_000005.9:g.140027129G>C | ClinGen:CA292433 | CN517202 not provided; | |
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) | 4695 | NDUFA2 | Uncertain significance | rs1255776529 | RCV001155277; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027143 | 140027143 | | | 5:g.140027143C>A | - | | |
NM_002488.4(NDUFA2):c.-48A>G | 4695 | NDUFA2 | Benign | rs778593 | RCV000355665|RCV001672651; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 140027216 | 140027216 | | | NC_000005.9:g.140027216T>C | ClinGen:CA3442589 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-50G>A | 4695 | NDUFA2 | Conflicting interpretations of pathogenicity | rs143857164 | RCV000263224|RCV000612041; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 5 | 140027218 | 140027218 | | | NC_000005.9:g.140027218C>T | ClinGen:CA3442590 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-51C>A | 4695 | NDUFA2 | Uncertain significance | rs886060016 | RCV000329989; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027219 | 140027219 | | | NC_000005.9:g.140027219G>T | ClinGen:CA10620335 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-53A>G | 4695 | NDUFA2 | Uncertain significance | rs747127939 | RCV000386841; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027221 | 140027221 | | | NC_000005.9:g.140027221T>C | ClinGen:CA3442591 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-63G>A | 4695 | NDUFA2 | Uncertain significance | rs748460855 | RCV000276097; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027231 | 140027231 | | | NC_000005.9:g.140027231C>T | ClinGen:CA3442594 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-114T>A | 4695 | NDUFA2 | Uncertain significance | rs760264090 | RCV001156939; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027282 | 140027282 | | | 5:g.140027282A>T | - | | |
NM_002488.4(NDUFA2):c.-136A>G | 4695 | NDUFA2 | Benign | rs778594 | RCV000333463|RCV001653684; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 140027304 | 140027304 | | | NC_000005.9:g.140027304T>C | ClinGen:CA3442607 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002488.4(NDUFA2):c.-145T>A | 4695 | NDUFA2 | Uncertain significance | rs886060017 | RCV000380861; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 140027313 | 140027313 | | | NC_000005.9:g.140027313A>T | ClinGen:CA10622992 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) | 51103 | NDUFAF1 | Benign | rs12900702 | RCV000117704|RCV000348185|RCV000676308; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41679685 | 41679685 | | | 15:g.41679685G>C | ClinGen:CA153851,UniProtKB:Q9Y375#VAR_013562 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) | 51103 | NDUFAF1 | Benign | rs73407109 | RCV000402188|RCV000676309; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41679717 | 41679717 | | | 15:g.41679717C>T | ClinGen:CA7491196 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs145122315 | RCV000199600|RCV000282770|RCV000896710; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41679771 | 41679771 | | | NC_000015.9:g.41679771G>A | ClinGen:CA324141 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) | 51103 | NDUFAF1 | Uncertain significance | rs769371844 | RCV001119016; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41687095 | 41687095 | | | 15:g.41687095T>C | - | | |
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs150539399 | RCV000192874|RCV000428377|RCV001120991; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41687108 | 41687108 | | | 15:g.41687108C>T | ClinGen:CA319696 | CN517202 not provided; | |
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) | 51103 | NDUFAF1 | Uncertain significance | rs759432475 | RCV001120992|RCV003117767; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41687115 | 41687115 | | | 15:g.41687115T>C | - | | |
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) | 51103 | NDUFAF1 | Uncertain significance | rs866015009 | RCV000342483; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41687173 | 41687173 | | | 15:g.41687173C>T | ClinGen:CA10635972 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) | 51103 | NDUFAF1 | Benign/Likely benign | rs34979001 | RCV000127120|RCV000676310|RCV001120993; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41688700 | 41688700 | | | NC_000015.9:g.41688700T>C | ClinGen:CA292448 | CN517202 not provided; | |
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs372385045 | RCV000200385|RCV000398311; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41688705 | 41688705 | | | NC_000015.9:g.41688705T>C | ClinGen:CA324955 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) | 51103 | NDUFAF1 | Uncertain significance | rs886051143 | RCV000297831; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41688720 | 41688720 | | | NC_000015.9:g.41688720T>C | ClinGen:CA10645903 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs576430165 | RCV001120994|RCV002556602; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41688722 | 41688722 | | | 15:g.41688722C>T | - | | |
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) | 51103 | NDUFAF1 | Benign/Likely benign | rs35227875 | RCV000127119|RCV000336396|RCV000676311|RCV000999773; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234 | 15 | 41688732 | 41688732 | | | 15:g.41688732C>T | ClinGen:CA292446,UniProtKB:Q9Y375#VAR_013561 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) | 51103 | NDUFAF1 | Uncertain significance | rs764849578 | RCV001116065; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41688829 | 41688829 | | | 15:g.41688829C>T | - | | |
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) | 51103 | NDUFAF1 | Uncertain significance | rs151286131 | RCV000408081|RCV000732392; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41688890 | 41688890 | | | 15:g.41688890A>G | ClinGen:CA323476 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) | 51103 | NDUFAF1 | Uncertain significance | rs759057658 | RCV001116066; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41688974 | 41688974 | | | 15:g.41688974C>T | - | | |
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) | 51103 | NDUFAF1 | Uncertain significance | rs146540015 | RCV000198494|RCV001116067|RCV002517237; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 15 | 41689009 | 41689009 | | | NC_000015.9:g.41689009A>T | ClinGen:CA323005 | | |
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) | 51103 | NDUFAF1 | Uncertain significance | rs1406147170 | RCV001116068; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41689020 | 41689020 | | | 15:g.41689020C>G | - | | |
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs200472799 | RCV000301292|RCV000911034; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41689043 | 41689043 | | | 15:g.41689043G>C | ClinGen:CA321075 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) | 51103 | NDUFAF1 | Benign | rs3204853 | RCV000117703|RCV000367569|RCV000676312|RCV001778733; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234 | 15 | 41689166 | 41689166 | | | 15:g.41689166C>A | ClinGen:CA153849,UniProtKB:Q9Y375#VAR_013560 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) | 51103 | NDUFAF1 | Uncertain significance | rs148982578 | RCV000275249; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41689197 | 41689197 | | | NC_000015.9:g.41689197T>A | ClinGen:CA7491404 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) | 51103 | NDUFAF1 | Benign | rs1899 | RCV000117702|RCV000314089|RCV000676313|RCV001778732; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032617,MedGen:C4748769,OMIM:618234 | 15 | 41689232 | 41689232 | | | 15:g.41689232C>T | ClinGen:CA153847,UniProtKB:Q9Y375#VAR_013559 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-6T>G | 51103 | NDUFAF1 | Conflicting interpretations of pathogenicity | rs180730324 | RCV000127118|RCV000371026|RCV000676314; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41689263 | 41689263 | | | NC_000015.9:g.41689263A>C | ClinGen:CA292445 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-34C>G | 51103 | NDUFAF1 | Uncertain significance | rs751720445 | RCV001117510; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41689291 | 41689291 | | | 15:g.41689291G>C | - | | |
NM_016013.4(NDUFAF1):c.-137C>T | 51103 | NDUFAF1 | Uncertain significance | rs369431865 | RCV000269256; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694397 | 41694397 | | | NC_000015.9:g.41694397G>A | ClinGen:CA7491436 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-140C>T | 51103 | NDUFAF1 | Uncertain significance | rs886051144 | RCV000326685; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694400 | 41694400 | | | NC_000015.9:g.41694400G>A | ClinGen:CA10646922 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-165C>T | 51103 | NDUFAF1 | Uncertain significance | rs561102841 | RCV001117511; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694425 | 41694425 | | | 15:g.41694425G>A | - | | |
NM_016013.4(NDUFAF1):c.-180C>T | 51103 | NDUFAF1 | Uncertain significance | rs886051145 | RCV000383639; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694440 | 41694440 | | | NC_000015.9:g.41694440G>A | ClinGen:CA10641802 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-192T>C | 51103 | NDUFAF1 | Uncertain significance | rs948869374 | RCV001117512; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694452 | 41694452 | | | 15:g.41694452A>G | - | | |
NM_016013.4(NDUFAF1):c.-205G>C | 51103 | NDUFAF1 | Uncertain significance | rs190265352 | RCV000272915; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694465 | 41694465 | | | NC_000015.9:g.41694465C>G | ClinGen:CA10635974 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-242G>C | 51103 | NDUFAF1 | Uncertain significance | rs762867624 | RCV001119109; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694502 | 41694502 | | | 15:g.41694502C>G | - | | |
NM_016013.4(NDUFAF1):c.-293C>T | 51103 | NDUFAF1 | Uncertain significance | rs760649120 | RCV000320670; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694553 | 41694553 | | | NC_000015.9:g.41694553G>A | ClinGen:CA7491446 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-312T>G | 51103 | NDUFAF1 | Uncertain significance | rs886051146 | RCV000377592; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694572 | 41694572 | | | NC_000015.9:g.41694572A>C | ClinGen:CA10641810 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-352C>T | 51103 | NDUFAF1 | Uncertain significance | rs532681188 | RCV000285408; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 15 | 41694612 | 41694612 | | | NC_000015.9:g.41694612G>A | ClinGen:CA10646925 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-379C>T | 51103 | NDUFAF1 | Benign/Likely benign | rs146883891 | RCV000342761|RCV001712026; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41694639 | 41694639 | | | NC_000015.9:g.41694639G>A | ClinGen:CA7491450 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_016013.4(NDUFAF1):c.-386A>T | 51103 | NDUFAF1 | Benign/Likely benign | rs111326645 | RCV000371953|RCV001613012; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 15 | 41694646 | 41694646 | | | NC_000015.9:g.41694646T>A | ClinGen:CA7491452 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) | 91942 | NDUFAF2 | Uncertain significance | rs779872068 | RCV000294764|RCV000386723; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60241180 | 60241180 | | | NC_000005.9:g.60241180A>G | ClinGen:CA3278067 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) | 91942 | NDUFAF2 | Uncertain significance | rs773988847 | RCV001156249|RCV001156250; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60241182 | 60241182 | | | 5:g.60241182T>C | - | | |
NM_174889.5(NDUFAF2):c.128-14C>G | 91942 | NDUFAF2 | Conflicting interpretations of pathogenicity | rs537327206 | RCV000351951|RCV000399037|RCV002520379; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 60368938 | 60368938 | | | NC_000005.9:g.60368938C>G | ClinGen:CA3278114 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) | 91942 | NDUFAF2 | Conflicting interpretations of pathogenicity | rs775605330 | RCV000197862|RCV001157922|RCV001157923|RCV002515408; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 5 | 60368955 | 60368955 | | | 5:g.60368955A>C | ClinGen:CA322323 | CN517202 not provided; | |
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) | 91942 | NDUFAF2 | Uncertain significance | rs1752321893 | RCV001157924|RCV001157925; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60368960 | 60368960 | | | 5:g.60368960A>G | - | | |
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) | 91942 | NDUFAF2 | Pathogenic/Likely pathogenic | rs137852863 | RCV000001661|RCV000624428|RCV000679870|RCV000779476|RCV000781647|RCV001582459; | N | MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 5 | 60368963 | 60368963 | | | 5:g.60368963C>T | ClinGen:CA115096,OMIM:609653.0001 | C0950123 Inborn genetic diseases; | |
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) | 91942 | NDUFAF2 | Uncertain significance | rs769579395 | RCV000298358|RCV000336991; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60369020 | 60369020 | | | NC_000005.9:g.60369020G>C | ClinGen:CA3278128 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) | 91942 | NDUFAF2 | Benign/Likely benign | rs191388646 | RCV000197895|RCV000886535|RCV001152460|RCV001157926; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 60448572 | 60448572 | | | NC_000005.9:g.60448572A>T | ClinGen:CA322362 | CN169374 not specified; | |
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) | 91942 | NDUFAF2 | Uncertain significance | rs770172045 | RCV000302238|RCV000400065; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60448686 | 60448686 | | | NC_000005.9:g.60448686T>A | ClinGen:CA3278195 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) | 91942 | NDUFAF2 | Uncertain significance | rs749677218 | RCV000266885|RCV000359308|RCV001861260; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 60448694 | 60448694 | | | NC_000005.9:g.60448694A>T | ClinGen:CA3278196 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) | 91942 | NDUFAF2 | Conflicting interpretations of pathogenicity | rs550008432 | RCV001152462|RCV001152461|RCV001712860; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 60448695 | 60448695 | | | 5:g.60448695A>G | - | | |
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) | 91942 | NDUFAF2 | Conflicting interpretations of pathogenicity | rs9885480 | RCV000585479|RCV000602804|RCV001152463|RCV001153733; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 60448723 | 60448723 | | | 5:g.60448723G>A | ClinGen:CA3278200 | CN517202 not provided; | |
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) | 91942 | NDUFAF2 | Benign/Likely benign | rs77878573 | RCV000127122|RCV000305680|RCV000363788|RCV000676955|RCV001001689; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233 | 5 | 60448734 | 60448734 | | | 5:g.60448734T>C | ClinGen:CA292451 | C0023264 256000 Leigh syndrome; | |
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) | -1 | NDUFAF2;ERCC8 | Conflicting interpretations of pathogenicity | rs199754807 | RCV000485122|RCV000590864|RCV000674200|RCV000780529|RCV001335554; | N | MedGen:CN517202|MONDO:MONDO:0032616,MedGen:C4748768,OMIM:618233|MONDO:MONDO:0019569,MedGen:C0751039,OMIM:216400, Orphanet:191, Orphanet:90321|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 60241196 | 60241196 | | | 5:g.60241196C>G | ClinGen:CA3278074,OMIM:609653.0004 | C0751039 216400 Cockayne syndrome type A; | |
NM_199069.1(NDUFAF3):c.-503G>A | 25915 | NDUFAF3 | Uncertain significance | rs774579592 | RCV001147842; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059075 | 49059075 | | | 3:g.49059075G>A | - | | |
NM_199069.1(NDUFAF3):c.-503G>C | 25915 | NDUFAF3 | Uncertain significance | rs774579592 | RCV001147843; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059075 | 49059075 | | | 3:g.49059075G>C | - | | |
NM_199069.1(NDUFAF3):c.-489T>C | 25915 | NDUFAF3 | Uncertain significance | rs886058662 | RCV000298090; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059089 | 49059089 | | | NC_000003.11:g.49059089T>C | ClinGen:CA10619029 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-370A>G | 25915 | NDUFAF3 | Uncertain significance | rs886058663 | RCV000355315; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059208 | 49059208 | | | NC_000003.11:g.49059208A>G | ClinGen:CA10619030 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-369C>T | 25915 | NDUFAF3 | Uncertain significance | rs886058664 | RCV000263161; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059209 | 49059209 | | | 3:g.49059209C>T | ClinGen:CA10619146 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-363C>G | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs760652685 | RCV000329996|RCV001643049; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49059215 | 49059215 | | | 3:g.49059215C>G | ClinGen:CA10619147 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-249C>T | 25915 | NDUFAF3 | Uncertain significance | rs886058665 | RCV000368268; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059329 | 49059329 | | | 3:g.49059329C>T | ClinGen:CA10616898 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-241C>T | 25915 | NDUFAF3 | Uncertain significance | rs573066357 | RCV000276027; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059337 | 49059337 | | | 3:g.49059337C>T | ClinGen:CA10619032 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-143A>T | 25915 | NDUFAF3 | Uncertain significance | rs2093162490 | RCV001149378; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059435 | 49059435 | | | 3:g.49059435A>T | - | | |
NM_199069.1(NDUFAF3):c.-127G>C | 25915 | NDUFAF3 | Uncertain significance | rs74601553 | RCV000333640; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059451 | 49059451 | | | 3:g.49059451G>C | ClinGen:CA10619148 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.1(NDUFAF3):c.-126G>C | 25915 | NDUFAF3 | Uncertain significance | rs75749590 | RCV000381247; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059452 | 49059452 | | | NC_000003.11:g.49059452G>C | ClinGen:CA10616899 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) | 25915 | NDUFAF3 | Uncertain significance | rs551062879 | RCV001149379; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059603 | 49059603 | | | 3:g.49059603G>T | - | | |
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) | 25915 | NDUFAF3 | Uncertain significance | rs886058667 | RCV000327772; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059615 | 49059615 | | | NC_000003.11:g.49059615C>T | ClinGen:CA10616907 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.78-15C>G | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs587781096 | RCV000127123|RCV001149380|RCV002514680; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49059764 | 49059764 | | | 3:g.49059764C>G | ClinGen:CA292453 | CN169374 not specified; | |
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr) | 25915 | NDUFAF3 | Uncertain significance | rs527954570 | RCV001336161|RCV002515410; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49059810 | 49059810 | | | 49059810 | - | | |
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs756339822 | RCV000424141|RCV001336162|RCV002524733; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 3 | 49059888 | 49059889 | | | 3:g.49059888_49059889insA | ClinGen:CA2390207 | CN517202 not provided; | |
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) | 25915 | NDUFAF3 | Uncertain significance | rs199504381 | RCV001149381|RCV002559436; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49059892 | 49059892 | | | 3:g.49059892A>C | - | | |
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) | 25915 | NDUFAF3 | Uncertain significance | rs200576852 | RCV000200717|RCV001145085; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059894 | 49059894 | | | 3:g.49059894A>T | ClinGen:CA325295 | CN169374 not specified; | |
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) | 25915 | NDUFAF3 | Uncertain significance | rs2093169670 | RCV001145086; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059906 | 49059906 | | | 3:g.49059906A>T | - | | |
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs373060774 | RCV001145087|RCV001858951|RCV002559400; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 3 | 49059927 | 49059927 | | | 3:g.49059927C>T | - | | |
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) | 25915 | NDUFAF3 | Uncertain significance | rs759189660 | RCV001145088; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49059959 | 49059959 | | | 3:g.49059959G>A | - | | |
NM_199069.2(NDUFAF3):c.271-10C>G | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs200789117 | RCV000906360|RCV001145089; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060125 | 49060125 | | | 3:g.49060125C>G | - | | |
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) | 25915 | NDUFAF3 | Uncertain significance | rs770941671 | RCV000376672|RCV002520154; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49060176 | 49060176 | | | NC_000003.11:g.49060176C>A | ClinGen:CA10619034 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.338-12A>C | 25915 | NDUFAF3 | Uncertain significance | rs774901107 | RCV000284541; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060297 | 49060297 | | | NC_000003.11:g.49060297A>C | ClinGen:CA2390287 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs202104160 | RCV000916872|RCV001145090; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060313 | 49060313 | | | 3:g.49060313C>T | ClinGen:CA2390290 | CN169374 not specified; | |
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) | 25915 | NDUFAF3 | Uncertain significance | rs544277179 | RCV000341917|RCV001660725; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49060357 | 49060357 | | | NC_000003.11:g.49060357A>G | ClinGen:CA2390300 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.438+9C>T | 25915 | NDUFAF3 | Conflicting interpretations of pathogenicity | rs374825937 | RCV000401207|RCV002520155; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 49060418 | 49060418 | | | NC_000003.11:g.49060418C>T | ClinGen:CA2390308 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) | 25915 | NDUFAF3 | Uncertain significance | rs1378867079 | RCV001147044; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060586 | 49060586 | | | 3:g.49060586T>C | - | | |
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) | 25915 | NDUFAF3 | Uncertain significance | rs527841371 | RCV000779416|RCV003133588; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032623,MedGen:C4748790,OMIM:618240 | 3 | 49060600 | 49060600 | | | NC_000003.11:g.49060600C>T | - | | |
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) | 25915 | NDUFAF3 | Uncertain significance | rs886058668 | RCV000278447; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060601 | 49060601 | | | NC_000003.11:g.49060601A>G | ClinGen:CA10616913 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.*98A>G | 25915 | NDUFAF3 | Uncertain significance | rs117051791 | RCV001147045; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060703 | 49060703 | | | 3:g.49060703A>G | - | | |
NM_199069.2(NDUFAF3):c.*169G>C | 25915 | NDUFAF3 | Uncertain significance | rs886058669 | RCV000335789; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060774 | 49060774 | | | NC_000003.11:g.49060774G>C | ClinGen:CA10619039 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.*194G>C | 25915 | NDUFAF3 | Uncertain significance | rs78116829 | RCV000393605; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060799 | 49060799 | | | NC_000003.11:g.49060799G>C | ClinGen:CA10619045 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_199069.2(NDUFAF3):c.*243G>A | 25915 | NDUFAF3 | Uncertain significance | rs941353519 | RCV001147046; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 49060848 | 49060848 | | | 3:g.49060848G>A | - | | |
NM_014165.4(NDUFAF4):c.*1748T>C | 29078 | NDUFAF4 | Uncertain significance | rs886061823 | RCV000347095; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337232 | 97337232 | | | NC_000006.11:g.97337232A>G | ClinGen:CA10624868 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1728G>A | 29078 | NDUFAF4 | Uncertain significance | rs1775284209 | RCV001160932; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337252 | 97337252 | | | 6:g.97337252C>T | - | | |
NM_014165.4(NDUFAF4):c.*1727T>C | 29078 | NDUFAF4 | Uncertain significance | rs886061824 | RCV000397295; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337253 | 97337253 | | | NC_000006.11:g.97337253A>G | ClinGen:CA10622814 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1671T>C | 29078 | NDUFAF4 | Uncertain significance | rs182040819 | RCV000303762; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337309 | 97337309 | | | NC_000006.11:g.97337309A>G | ClinGen:CA10627750 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1642T>G | 29078 | NDUFAF4 | Uncertain significance | rs150444958 | RCV000360842; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337338 | 97337338 | | | NC_000006.11:g.97337338A>C | ClinGen:CA10627754 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1487A>G | 29078 | NDUFAF4 | Uncertain significance | rs748437516 | RCV000268561; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337493 | 97337493 | | | NC_000006.11:g.97337493T>C | ClinGen:CA10627759 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1481T>C | 29078 | NDUFAF4 | Uncertain significance | rs772264922 | RCV000297975; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337499 | 97337499 | | | NC_000006.11:g.97337499A>G | ClinGen:CA10622816 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1447T>C | 29078 | NDUFAF4 | Uncertain significance | rs116939090 | RCV000354926; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337533 | 97337533 | | | NC_000006.11:g.97337533A>G | ClinGen:CA10622817 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1443G>A | 29078 | NDUFAF4 | Benign | rs7758762 | RCV000262685; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337537 | 97337537 | | | 6:g.97337537C>T | ClinGen:CA10622818 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1375G>T | 29078 | NDUFAF4 | Uncertain significance | rs138003168 | RCV000320120; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337605 | 97337605 | | | 6:g.97337605C>A | ClinGen:CA10627762 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1368A>G | 29078 | NDUFAF4 | Uncertain significance | rs563778638 | RCV001162539; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337612 | 97337612 | | | 6:g.97337612T>C | - | | |
NM_014165.4(NDUFAF4):c.*1363G>A | 29078 | NDUFAF4 | Uncertain significance | rs184678986 | RCV000386306; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337617 | 97337617 | | | 6:g.97337617C>T | ClinGen:CA10624869 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1362C>T | 29078 | NDUFAF4 | Uncertain significance | rs545168471 | RCV000275165; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337618 | 97337618 | | | 6:g.97337618G>A | ClinGen:CA10627818 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1334G>A | 29078 | NDUFAF4 | Uncertain significance | rs763941216 | RCV001162540; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337646 | 97337646 | | | 6:g.97337646C>T | - | | |
NM_014165.4(NDUFAF4):c.*1299G>A | 29078 | NDUFAF4 | Likely benign | rs73758053 | RCV001162541; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337681 | 97337681 | | | 6:g.97337681C>T | - | | |
NM_014165.4(NDUFAF4):c.*1247A>G | 29078 | NDUFAF4 | Uncertain significance | rs1775290779 | RCV001162542; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337733 | 97337733 | | | 6:g.97337733T>C | - | | |
NM_014165.4(NDUFAF4):c.*1214G>A | 29078 | NDUFAF4 | Likely benign | rs17057099 | RCV001164580; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337766 | 97337766 | | | 6:g.97337766C>T | - | | |
NM_014165.4(NDUFAF4):c.*1213C>T | 29078 | NDUFAF4 | Uncertain significance | rs1456765249 | RCV001164581; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337767 | 97337767 | | | 6:g.97337767G>A | - | | |
NM_014165.4(NDUFAF4):c.*1203A>G | 29078 | NDUFAF4 | Uncertain significance | rs190331411 | RCV000332635; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337777 | 97337777 | | | 6:g.97337777T>C | ClinGen:CA10624873 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1154A>G | 29078 | NDUFAF4 | Uncertain significance | rs886061825 | RCV000389364; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337826 | 97337826 | | | 6:g.97337826T>C | ClinGen:CA10622823 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1121A>G | 29078 | NDUFAF4 | Uncertain significance | rs886061826 | RCV000288104; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337859 | 97337859 | | | NC_000006.11:g.97337859T>C | ClinGen:CA10627819 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1062T>G | 29078 | NDUFAF4 | Likely benign | rs76370016 | RCV000345543; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337918 | 97337918 | | | NC_000006.11:g.97337918A>C | ClinGen:CA10624874 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*1008T>C | 29078 | NDUFAF4 | Uncertain significance | rs886061827 | RCV000291794; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337972 | 97337972 | | | NC_000006.11:g.97337972A>G | ClinGen:CA10622824 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*986A>C | 29078 | NDUFAF4 | Uncertain significance | rs192839240 | RCV000339758; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97337994 | 97337994 | | | NC_000006.11:g.97337994T>G | ClinGen:CA10627822 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*782T>C | 29078 | NDUFAF4 | Uncertain significance | rs190211537 | RCV001159665; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338198 | 97338198 | | | 6:g.97338198A>G | - | | |
NM_014165.4(NDUFAF4):c.*690G>A | 29078 | NDUFAF4 | Uncertain significance | rs181915821 | RCV000396406; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338290 | 97338290 | | | NC_000006.11:g.97338290C>T | ClinGen:CA10624876 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*639A>C | 29078 | NDUFAF4 | Likely benign | rs11759571 | RCV001159666; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338341 | 97338341 | | | 6:g.97338341T>G | - | | |
NM_014165.4(NDUFAF4):c.*612A>G | 29078 | NDUFAF4 | Uncertain significance | rs886061828 | RCV000305325; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338368 | 97338368 | | | NC_000006.11:g.97338368T>C | ClinGen:CA10627764 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*482A>G | 29078 | NDUFAF4 | Uncertain significance | rs56240093 | RCV001159667; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338498 | 97338498 | | | 6:g.97338498T>C | - | | |
NM_014165.4(NDUFAF4):c.*459A>G | 29078 | NDUFAF4 | Uncertain significance | rs560563894 | RCV000334469; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338521 | 97338521 | | | NC_000006.11:g.97338521T>C | ClinGen:CA10627823 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*387C>T | 29078 | NDUFAF4 | Likely benign | rs41288596 | RCV000396414; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338593 | 97338593 | | | NC_000006.11:g.97338593G>A | ClinGen:CA10624880 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*382T>A | 29078 | NDUFAF4 | Benign | rs1971475 | RCV000299285; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338598 | 97338598 | | | NC_000006.11:g.97338598A>T | ClinGen:CA10624888 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*350A>C | 29078 | NDUFAF4 | Likely benign | rs41288598 | RCV000356500; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338630 | 97338630 | | | NC_000006.11:g.97338630T>G | ClinGen:CA10627824 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*332A>T | 29078 | NDUFAF4 | Benign | rs10499008 | RCV000273464; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338648 | 97338648 | | | NC_000006.11:g.97338648T>A | ClinGen:CA10627825 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*323A>T | 29078 | NDUFAF4 | Benign | rs9487453 | RCV000312171; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338657 | 97338657 | | | NC_000006.11:g.97338657T>A | ClinGen:CA10622826 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*305C>A | 29078 | NDUFAF4 | Uncertain significance | rs576437181 | RCV001161063; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338675 | 97338675 | | | 6:g.97338675G>T | - | | |
NM_014165.4(NDUFAF4):c.*301T>A | 29078 | NDUFAF4 | Benign | rs1854268 | RCV000369579|RCV001537432; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 6 | 97338679 | 97338679 | | | NC_000006.11:g.97338679A>T | ClinGen:CA10622827 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*294T>G | 29078 | NDUFAF4 | Uncertain significance | rs555318888 | RCV000277352; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338686 | 97338686 | | | NC_000006.11:g.97338686A>C | ClinGen:CA10627828 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*289C>G | 29078 | NDUFAF4 | Uncertain significance | rs143895125 | RCV000325406; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338691 | 97338691 | | | NC_000006.11:g.97338691G>C | ClinGen:CA10627765 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.*289C>T | 29078 | NDUFAF4 | Uncertain significance | rs143895125 | RCV001161064; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338691 | 97338691 | | | 6:g.97338691G>A | - | | |
NM_014165.4(NDUFAF4):c.*119T>C | 29078 | NDUFAF4 | Uncertain significance | rs113099906 | RCV001162632; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338861 | 97338861 | | | 6:g.97338861A>G | - | | |
NM_014165.4(NDUFAF4):c.*14A>C | 29078 | NDUFAF4 | Uncertain significance | rs1775308769 | RCV001162633; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97338966 | 97338966 | | | 6:g.97338966T>G | - | | |
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) | 29078 | NDUFAF4 | Conflicting interpretations of pathogenicity | rs201754378 | RCV000382393|RCV000423154; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 6 | 97339017 | 97339017 | | | NC_000006.11:g.97339017A>T | ClinGen:CA3931381 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) | 29078 | NDUFAF4 | Benign | rs6684 | RCV000117707|RCV000271558|RCV000676773|RCV001778736; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237 | 6 | 97339078 | 97339078 | | | 6:g.97339078A>G | ClinGen:CA153857 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) | 29078 | NDUFAF4 | Benign | rs11402 | RCV000117706|RCV000328919|RCV000676774|RCV001778735; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237 | 6 | 97339088 | 97339088 | | | 6:g.97339088C>T | ClinGen:CA153855 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) | 29078 | NDUFAF4 | Conflicting interpretations of pathogenicity | rs372832376 | RCV000612845|RCV001164693; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97339238 | 97339238 | | | 6:g.97339238C>T | ClinGen:CA3931408 | CN169374 not specified; | |
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) | 29078 | NDUFAF4 | Uncertain significance | rs1775313687 | RCV001333727; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97339240 | 97339240 | | | 97339240 | - | | |
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) | 29078 | NDUFAF4 | Uncertain significance | rs886061829 | RCV000284369; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97344637 | 97344637 | | | NC_000006.11:g.97344637G>C | ClinGen:CA10627829 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) | 29078 | NDUFAF4 | Uncertain significance | rs760918613 | RCV001164694; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97344671 | 97344671 | | | 6:g.97344671C>G | - | | |
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) | 29078 | NDUFAF4 | Conflicting interpretations of pathogenicity | rs78567928 | RCV000323220|RCV000879095; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 6 | 97344676 | 97344676 | | | NC_000006.11:g.97344676G>A | ClinGen:CA3931452 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) | 29078 | NDUFAF4 | Conflicting interpretations of pathogenicity | rs117908219 | RCV000127126|RCV000756413|RCV001164695|RCV001803001; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032620,MedGen:C4748778,OMIM:618237 | 6 | 97345558 | 97345558 | | | 6:g.97345558C>T | ClinGen:CA292458 | CN169374 not specified; | |
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) | 29078 | NDUFAF4 | Benign/Likely benign | rs139675421 | RCV000127124|RCV000892181|RCV001164696; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345567 | 97345567 | | | 6:g.97345567G>A | ClinGen:CA292454 | CN169374 not specified; | |
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) | 29078 | NDUFAF4 | Uncertain significance | rs1562146819 | RCV001164697; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345618 | 97345618 | | | 6:g.97345618C>A | - | | |
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) | 29078 | NDUFAF4 | Uncertain significance | rs558262843 | RCV000498810|RCV002279722; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345677 | 97345677 | | | NC_000006.11:g.97345677T>C | ClinGen:CA3931512 | | |
NM_014165.4(NDUFAF4):c.-11G>T | 29078 | NDUFAF4 | Uncertain significance | rs571796525 | RCV001164698; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345688 | 97345688 | | | 6:g.97345688C>A | - | | |
NM_014165.4(NDUFAF4):c.-20G>T | 29078 | NDUFAF4 | Uncertain significance | rs1186295770 | RCV001159770; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345697 | 97345697 | | | 6:g.97345697C>A | - | | |
NM_014165.4(NDUFAF4):c.-24C>G | 29078 | NDUFAF4 | Uncertain significance | rs886061830 | RCV000380202; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345701 | 97345701 | | | NC_000006.11:g.97345701G>C | ClinGen:CA10627830 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.-33G>T | 29078 | NDUFAF4 | Uncertain significance | rs886061832 | RCV000336098; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345710 | 97345710 | | | NC_000006.11:g.97345710C>A | ClinGen:CA10624910 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.-40C>T | 29078 | NDUFAF4 | Uncertain significance | rs749427985 | RCV000404642; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345717 | 97345717 | | | NC_000006.11:g.97345717G>A | ClinGen:CA10624914 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.-49C>T | 29078 | NDUFAF4 | Uncertain significance | rs372635399 | RCV000282372; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345726 | 97345726 | | | NC_000006.11:g.97345726G>A | ClinGen:CA3931532 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_014165.4(NDUFAF4):c.-65C>G | 29078 | NDUFAF4 | Uncertain significance | rs1463385663 | RCV001159771; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 6 | 97345742 | 97345742 | | | 6:g.97345742G>C | - | | |
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) | 79133 | NDUFAF5 | Uncertain significance | rs1980757406 | RCV001329313; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 20 | 13765849 | 13765849 | | | 13765849 | - | | |
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) | 79133 | NDUFAF5 | Uncertain significance | rs1980770637 | RCV001336085; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 20 | 13765890 | 13765890 | | | 13765890 | - | | |
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) | 79133 | NDUFAF5 | Uncertain significance | rs146837138 | RCV000197548|RCV000765487|RCV001276988; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | 20 | 13765892 | 13765892 | | | NC_000020.10:g.13765892G>A | ClinGen:CA322012 | CN517202 not provided; | |
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) | 79133 | NDUFAF5 | Conflicting interpretations of pathogenicity | rs150613320 | RCV000255420|RCV001266325|RCV001507283|RCV001833296|RCV001824717; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 20 | 13769298 | 13769298 | | | 20:g.13769298G>C | ClinGen:CA9767701,OMIM:612360.0007 | CN517202 not provided; | |
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) | 79133 | NDUFAF5 | Conflicting interpretations of pathogenicity | rs778575439 | RCV000509006|RCV001089945|RCV001329312|RCV002255148; | N | MONDO:MONDO:0020478,MedGen:C4304725, Orphanet:99718|MONDO:MONDO:0032621,MedGen:C4748785,OMIM:618238|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 20 | 13797841 | 13797842 | | | NC_000020.10:g.13797847dupA | ClinGen:CA9767961 | CN207347 Leber plus disease; | |
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) | 54539 | NDUFB11 | Pathogenic | rs786205225 | RCV000170490|RCV000240620|RCV000346231|RCV000763626; | N | MONDO:MONDO:0010494,MedGen:C4225421,OMIM:300952, Orphanet:2556|Human Phenotype Ontology:HP:0005152,MONDO:MONDO:0010771,MedGen:C1708371,OMIM:500000, Orphanet:137675|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; MONDO:MONDO:0024552,MedGen: | X | 47002089 | 47002089 | | | X:g.47002089G>A | ClinGen:CA199656,OMIM:300403.0001 | C1708371 500000 Infantile histiocytoid cardiomyopathy; | |
NM_005006.7(NDUFS1):c.*1077A>T | 4719 | NDUFS1 | Uncertain significance | rs917604810 | RCV001141166|RCV001141165; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206987832 | 206987832 | | | 2:g.206987832T>A | - | | |
NM_005006.7(NDUFS1):c.*966A>G | 4719 | NDUFS1 | Uncertain significance | rs755776989 | RCV000301641|RCV000358744; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206987943 | 206987943 | | | NC_000002.11:g.206987943T>C | ClinGen:CA10612140 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*938C>T | 4719 | NDUFS1 | Uncertain significance | rs780498090 | RCV001141167|RCV001141168; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206987971 | 206987971 | | | 2:g.206987971G>A | - | | |
NM_005006.7(NDUFS1):c.*866A>C | 4719 | NDUFS1 | Uncertain significance | rs749790811 | RCV000307294|RCV000398472; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206988043 | 206988043 | | | NC_000002.11:g.206988043T>G | ClinGen:CA10613689 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*864G>A | 4719 | NDUFS1 | Uncertain significance | rs1691159722 | RCV001143008|RCV001143009; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206988045 | 206988045 | | | 2:g.206988045C>T | - | | |
NM_005006.7(NDUFS1):c.*756A>T | 4719 | NDUFS1 | Uncertain significance | rs755460274 | RCV000275533|RCV000332991; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206988153 | 206988153 | | | NC_000002.11:g.206988153T>A | ClinGen:CA10613692 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*733A>G | 4719 | NDUFS1 | Benign | rs6707707 | RCV000278615|RCV000389432; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206988176 | 206988176 | | | NC_000002.11:g.206988176T>C | ClinGen:CA10612142 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*641A>G | 4719 | NDUFS1 | Uncertain significance | rs886055501 | RCV000317468|RCV000374378; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206988268 | 206988268 | | | NC_000002.11:g.206988268T>C | ClinGen:CA10612143 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*574T>G | 4719 | NDUFS1 | Benign/Likely benign | rs73065790 | RCV001138267|RCV001138268|RCV001796372; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 206988335 | 206988335 | | | 2:g.206988335A>C | - | | |
NM_005006.7(NDUFS1):c.*561T>C | 4719 | NDUFS1 | Uncertain significance | rs146538309 | RCV000282324|RCV000339709; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988348 | 206988348 | | | NC_000002.11:g.206988348A>G | ClinGen:CA10612576 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*504G>A | 4719 | NDUFS1 | Uncertain significance | rs548641207 | RCV000286009|RCV000394554; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988405 | 206988405 | | | 2:g.206988405C>T | ClinGen:CA10613695 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*459A>G | 4719 | NDUFS1 | Uncertain significance | rs1691173843 | RCV001138691|RCV001138692; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988450 | 206988450 | | | 2:g.206988450T>C | - | | |
NM_005006.7(NDUFS1):c.*457T>A | 4719 | NDUFS1 | Benign | rs4147728 | RCV000342686|RCV000394556|RCV001683335; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206988452 | 206988452 | | | 2:g.206988452A>T | ClinGen:CA10613696 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*438C>T | 4719 | NDUFS1 | Uncertain significance | rs561980718 | RCV000307565|RCV000364628; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988471 | 206988471 | | | 2:g.206988471G>A | ClinGen:CA10612577 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*426T>G | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs114402169 | RCV001138693|RCV001138694|RCV001856776; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206988483 | 206988483 | | | 2:g.206988483A>C | - | | |
NM_005006.7(NDUFS1):c.*399G>A | 4719 | NDUFS1 | Benign/Likely benign | rs77000728 | RCV000310899|RCV000402213|RCV001653618; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 206988510 | 206988510 | | | 2:g.206988510C>T | ClinGen:CA10613952 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*341A>G | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs150214409 | RCV001141271|RCV001141270|RCV001786443; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206988568 | 206988568 | | | 2:g.206988568T>C | - | | |
NM_005006.7(NDUFS1):c.*336G>T | 4719 | NDUFS1 | Benign | rs1044120 | RCV000275804|RCV000368047|RCV001636929; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206988573 | 206988573 | | | 2:g.206988573C>A | ClinGen:CA10612578 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*256C>T | 4719 | NDUFS1 | Benign/Likely benign | rs10198830 | RCV000333555|RCV000353381|RCV001711947; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206988653 | 206988653 | | | 2:g.206988653G>A | ClinGen:CA10612152 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*158T>C | 4719 | NDUFS1 | Benign/Likely benign | rs3770989 | RCV000260695|RCV000318219; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988751 | 206988751 | | | 2:g.206988751A>G | ClinGen:CA10613697 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*151T>C | 4719 | NDUFS1 | Uncertain significance | rs533179154 | RCV000283276|RCV000375427; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988758 | 206988758 | | | 2:g.206988758A>G | ClinGen:CA10612579 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.*130A>C | 4719 | NDUFS1 | Uncertain significance | rs200736574 | RCV001143107|RCV001143108; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206988779 | 206988779 | | | 2:g.206988779T>G | - | | |
NM_005006.7(NDUFS1):c.*53T>G | 4719 | NDUFS1 | Benign/Likely benign | rs116335919 | RCV001143109|RCV001143110|RCV001552479; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 206988856 | 206988856 | | | 2:g.206988856A>C | - | | |
NM_005006.7(NDUFS1):c.*27C>T | 4719 | NDUFS1 | Uncertain significance | rs369746514 | RCV000288060|RCV000345317|RCV002480186; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 206988882 | 206988882 | | | 2:g.206988882G>A | ClinGen:CA2070238 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.2092+9T>C | 4719 | NDUFS1 | Uncertain significance | rs1173129542 | RCV001332552; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206991254 | 206991254 | | | 206991254 | - | | |
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) | 4719 | NDUFS1 | Uncertain significance | rs142716964 | RCV000291718|RCV000397460|RCV001824308|RCV001841256; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 206991447 | 206991447 | | | 2:g.206991447T>C | ClinGen:CA2070307 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs769276632 | RCV001136551|RCV001136552|RCV002558295; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 2 | 206991484 | 206991484 | | | 2:g.206991484C>T | - | | |
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) | 4719 | NDUFS1 | Uncertain significance | rs773111037 | RCV001136553|RCV001136554|RCV002556899|RCV002556898; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 2 | 206992657 | 206992657 | | | 2:g.206992657A>G | - | | |
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) | 4719 | NDUFS1 | Uncertain significance | rs762228459 | RCV001332551; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 206994896 | 206994896 | | | 206994896 | - | | |
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) | 4719 | NDUFS1 | Uncertain significance | rs138887128 | RCV001138790|RCV001138791|RCV001799736; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 206994908 | 206994908 | | | 2:g.206994908G>A | - | | |
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs201806038 | RCV000195446|RCV001138793|RCV001138792|RCV002515413; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 2 | 206994920 | 206994920 | | | 2:g.206994920C>T | ClinGen:CA319780 | CN169374 not specified; | |
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) | 4719 | NDUFS1 | Uncertain significance | rs1434275816 | RCV001138794|RCV001138795; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 206997697 | 206997697 | | | 2:g.206997697C>A | - | | |
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) | 4719 | NDUFS1 | Uncertain significance | rs137889316 | RCV000348996|RCV000397471|RCV001728094|RCV001861145|RCV002252098; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202| | 2 | 206997706 | 206997706 | | | 2:g.206997706C>T | ClinGen:CA2070426 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1393-7T>A | 4719 | NDUFS1 | Benign/Likely benign | rs200409285 | RCV001141371|RCV001141370|RCV001510839; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 206997836 | 206997836 | | | 2:g.206997836A>T | - | | |
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs2230892 | RCV000127145|RCV000298259|RCV000399898|RCV000676270|RCV001000338; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 207003230 | 207003230 | | | 2:g.207003230C>T | ClinGen:CA292489 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) | 4719 | NDUFS1 | Uncertain significance | rs758095913 | RCV000262962|RCV000355346; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207003238 | 207003238 | | | 2:g.207003238T>C | ClinGen:CA2070480 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs78042826 | RCV000195297|RCV000513877|RCV000605317|RCV001143218|RCV001143217|RCV001282631; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 207003310 | 207003310 | | | 2:g.207003310G>C | ClinGen:CA232547 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) | 4719 | NDUFS1 | Uncertain significance | rs78042826 | RCV001141372|RCV001141373; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207003310 | 207003310 | | | 2:g.207003310G>A | - | | |
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) | 4719 | NDUFS1 | Benign | rs1801318 | RCV000117709|RCV000301574|RCV000358690|RCV000676271|RCV001778737; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 207006676 | 207006676 | | | 2:g.207006676T>C | ClinGen:CA153859 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del) | 4719 | NDUFS1 | Uncertain significance | rs1559055100 | RCV001335222; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207006727 | 207006729 | | | 207006726 | - | | |
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) | 4719 | NDUFS1 | Uncertain significance | rs765436915 | RCV000266394|RCV000323881|RCV000519440; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207007423 | 207007423 | | | 2:g.207007423T>C | ClinGen:CA2070563 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs112026097 | RCV000429059|RCV001143219|RCV001143220|RCV001512828; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207007481 | 207007481 | | | 2:g.207007481G>A | ClinGen:CA2070575 | CN169374 not specified; | |
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) | 4719 | NDUFS1 | Uncertain significance | rs774232299 | RCV001136653|RCV001136654; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207008743 | 207008743 | | | 2:g.207008743A>G | - | | |
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) | 4719 | NDUFS1 | Benign/Likely benign | rs2230890 | RCV000127141|RCV000270808|RCV000381710|RCV002055703; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207008754 | 207008754 | | | 2:g.207008754G>A | ClinGen:CA292484 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) | 4719 | NDUFS1 | Benign | rs1127566 | RCV000117710|RCV000328157|RCV000385000|RCV000676273|RCV001778738; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 207008763 | 207008763 | | | 2:g.207008763C>A | ClinGen:CA153862 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) | 4719 | NDUFS1 | Likely pathogenic | rs1485032272 | RCV000768439; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207009643 | 207009643 | | | NC_000002.11:g.207009643T>C | - | | |
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) | 4719 | NDUFS1 | Uncertain significance | rs142941808 | RCV001335223|RCV002546721; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 2 | 207009662 | 207009662 | | | 207009662 | - | | |
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs148726142 | RCV001136655|RCV001136656|RCV002556902; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207009720 | 207009720 | | | 2:g.207009720C>T | - | | |
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs148544177 | RCV000419653|RCV001138898|RCV001138899|RCV002061445; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207011753 | 207011753 | | | 2:g.207011753A>G | ClinGen:CA2070717 | CN169374 not specified; | |
NM_005006.7(NDUFS1):c.551+14C>A | 4719 | NDUFS1 | Benign/Likely benign | rs10206644 | RCV000127140|RCV000293249|RCV000350546|RCV001523312; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207012241 | 207012241 | | | 2:g.207012241G>T | ClinGen:CA292483 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) | 4719 | NDUFS1 | Uncertain significance | rs764520533 | RCV001332554|RCV001365457; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207012330 | 207012330 | | | 207012330 | - | | |
NM_005006.7(NDUFS1):c.421-7A>G | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs192949406 | RCV000127139|RCV000296747|RCV000388644|RCV000888456; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207012392 | 207012392 | | | 2:g.207012392T>C | ClinGen:CA292482 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) | 4719 | NDUFS1 | Benign/Likely benign | rs11548670 | RCV000127138|RCV000334929|RCV000395218|RCV000676275; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207012483 | 207012483 | | | 2:g.207012483A>G | ClinGen:CA292480 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) | 4719 | NDUFS1 | Uncertain significance | rs757139275 | RCV000299872|RCV000338484; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207012501 | 207012501 | | | 2:g.207012501G>T | ClinGen:CA2070790 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) | 4719 | NDUFS1 | Uncertain significance | rs886055502 | RCV000303664|RCV000395226; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207012533 | 207012533 | | | 2:g.207012533C>T | ClinGen:CA2070794 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) | 4719 | NDUFS1 | Uncertain significance | rs780235386 | RCV001141490|RCV001141489; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207012536 | 207012536 | | | 2:g.207012536A>G | - | | |
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) | 4719 | NDUFS1 | Uncertain significance | rs1692265722 | RCV001141492|RCV001141491; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207013745 | 207013745 | | | 2:g.207013745T>C | - | | |
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) | 4719 | NDUFS1 | Uncertain significance | rs763697779 | RCV001332553|RCV001859297; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207013802 | 207013802 | | | 207013802 | - | | |
NM_005006.7(NDUFS1):c.261+6T>C | 4719 | NDUFS1 | Uncertain significance | rs748906579 | RCV001143327|RCV001143328; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207014536 | 207014536 | | | 2:g.207014536A>G | - | | |
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) | 4719 | NDUFS1 | Benign/Likely benign | rs2230888 | RCV000127147|RCV000275731|RCV000386489|RCV002055704; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207017173 | 207017173 | | | 2:g.207017173G>A | ClinGen:CA292492 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) | 4719 | NDUFS1 | Uncertain significance | rs774332882 | RCV001143329|RCV001143330|RCV002557052; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207017226 | 207017226 | | | 2:g.207017226T>C | - | | |
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) | 4719 | NDUFS1 | Pathogenic | rs750971390 | RCV000768438|RCV002493399; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226 | 2 | 207017232 | 207017232 | | | NC_000002.11:g.207017232G>A | - | | |
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs756632601 | RCV001143331|RCV001143332|RCV002070724; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 2 | 207017233 | 207017233 | | | 2:g.207017233A>G | - | | |
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) | 4719 | NDUFS1 | Uncertain significance | rs1367512688 | RCV001136756|RCV001136757; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207018371 | 207018371 | | | 2:g.207018371A>T | - | | |
NM_005006.7(NDUFS1):c.-31A>G | 4719 | NDUFS1 | Uncertain significance | rs1687818178 | RCV001136759|RCV001136758; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207024091 | 207024091 | | | 2:g.207024091T>C | - | | |
NM_005006.7(NDUFS1):c.-38T>G | 4719 | NDUFS1 | Uncertain significance | rs1559071008 | RCV001136760|RCV001136761; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207024098 | 207024098 | | | 2:g.207024098A>C | - | | |
NM_005006.7(NDUFS1):c.-47C>G | 4719 | NDUFS1 | Benign | rs4147707 | RCV000333207|RCV000371529|RCV001672569; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207024107 | 207024107 | | | NC_000002.11:g.207024107G>C | ClinGen:CA10612589 | C0023264 256000 Leigh syndrome; | |
NM_005006.7(NDUFS1):c.-61G>C | 4719 | NDUFS1 | Uncertain significance | rs367762150 | RCV001138989|RCV001138990; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207024121 | 207024121 | | | 2:g.207024121C>G | - | | |
NM_005006.7(NDUFS1):c.-64T>C | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs145023130 | RCV001138991|RCV001138992; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207024124 | 207024124 | | | 2:g.207024124A>G | - | | |
NM_005006.7(NDUFS1):c.-73C>A | 4719 | NDUFS1 | Uncertain significance | rs367649369 | RCV001138994|RCV001138993; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207024133 | 207024133 | | | 2:g.207024133G>T | - | | |
NM_005006.7(NDUFS1):c.-75A>G | 4719 | NDUFS1 | Uncertain significance | rs138818421 | RCV001138995|RCV001138996; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207024135 | 207024135 | | | 2:g.207024135T>C | - | | |
NM_005006.7(NDUFS1):c.-76G>A | 4719 | NDUFS1 | Conflicting interpretations of pathogenicity | rs116137442 | RCV001141607|RCV001141606|RCV001786444; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 2 | 207024136 | 207024136 | | | 2:g.207024136C>T | - | | |
NM_005006.7(NDUFS1):c.-101G>A | 4719 | NDUFS1 | Uncertain significance | rs983757976 | RCV001141609|RCV001141608; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 2 | 207024161 | 207024161 | | | 2:g.207024161C>T | - | | |
NM_005006.6(NDUFS1):c.-149T>G | 4719 | NDUFS1 | Uncertain significance | rs572965960 | RCV001141610|RCV001141611; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 2 | 207024209 | 207024209 | | | 2:g.207024209A>C | - | | |
NM_004550.5(NDUFS2):c.-388G>A | 4720 | NDUFS2 | Uncertain significance | rs3813623 | RCV000278644; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161169165 | 161169165 | | | NC_000001.10:g.161169165G>A | ClinGen:CA10608511 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-388G>T | 4720 | NDUFS2 | Benign | rs3813623 | RCV000336009|RCV001610796; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161169165 | 161169165 | | | 1:g.161169165G>T | ClinGen:CA10608534 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-346G>A | 4720 | NDUFS2 | Uncertain significance | rs189165754 | RCV000400511; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161169207 | 161169207 | | | NC_000001.10:g.161169207G>A | ClinGen:CA10608140 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-298C>G | 4720 | NDUFS2 | Uncertain significance | rs41270845 | RCV000305513; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161169255 | 161169255 | | | NC_000001.10:g.161169255C>G | ClinGen:CA10608537 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-223C>G | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs74124661 | RCV000127153|RCV001100892; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161171953 | 161171953 | | | 1:g.161171953C>G | ClinGen:CA292500 | CN169374 not specified; | |
NM_004550.5(NDUFS2):c.-218G>A | 4720 | NDUFS2 | Uncertain significance | rs563669084 | RCV000357971; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161171958 | 161171958 | | | NC_000001.10:g.161171958G>A | ClinGen:CA10608538 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-159C>A | 4720 | NDUFS2 | Uncertain significance | rs886045456 | RCV000400876; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161172017 | 161172017 | | | NC_000001.10:g.161172017C>A | ClinGen:CA10608540 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-156G>A | 4720 | NDUFS2 | Uncertain significance | rs886045457 | RCV000308844; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161172020 | 161172020 | | | NC_000001.10:g.161172020G>A | ClinGen:CA10607980 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-28C>T | 4720 | NDUFS2 | Uncertain significance | rs886045458 | RCV000366006; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161172148 | 161172148 | | | NC_000001.10:g.161172148C>T | ClinGen:CA10607984 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004550.5(NDUFS2):c.-20C>T | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs201554004 | RCV000127154|RCV000269081; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161172156 | 161172156 | | | 1:g.161172156C>T | ClinGen:CA292501 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr) | 4720 | NDUFS2 | Benign | rs11538340 | RCV000326214|RCV000676341|RCV001001508; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228 | 1 | 161172233 | 161172233 | | | 1:g.161172233C>A | ClinGen:CA1208457,UniProtKB:O75306#VAR_034150 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.95+14C>T | 4720 | NDUFS2 | Uncertain significance | rs751472475 | RCV000369303; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161172284 | 161172284 | | | NC_000001.10:g.161172284C>T | ClinGen:CA1208472 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) | 4720 | NDUFS2 | Uncertain significance | rs886045459 | RCV000276914|RCV002519404; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 1 | 161173229 | 161173229 | | | NC_000001.10:g.161173229G>A | ClinGen:CA10607985 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs145578059 | RCV000909958|RCV001097157; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161173248 | 161173248 | | | 1:g.161173248A>G | - | | |
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) | 4720 | NDUFS2 | Uncertain significance | rs774162709 | RCV000195688|RCV001332476; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161173289 | 161173289 | | | 1:g.161173289A>G | ClinGen:CA320051 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) | 4720 | NDUFS2 | Uncertain significance | rs569128565 | RCV000329593; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161173293 | 161173293 | | | NC_000001.10:g.161173293A>G | ClinGen:CA1208491 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) | 4720 | NDUFS2 | Uncertain significance | rs754241926 | RCV000386683|RCV001859752; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161176331 | 161176331 | | | NC_000001.10:g.161176331A>G | ClinGen:CA1208536 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) | 4720 | NDUFS2 | Uncertain significance | rs140324736 | RCV000280649; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161179030 | 161179030 | | | NC_000001.10:g.161179030C>T | ClinGen:CA1208573 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.514+11C>T | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs76309459 | RCV000127148|RCV000319217|RCV002055705; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161179114 | 161179114 | | | 1:g.161179114C>T | ClinGen:CA292494 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.515-3C>A | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs149789018 | RCV000371628|RCV000929918; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161179270 | 161179270 | | | NC_000001.10:g.161179270C>A | ClinGen:CA1208605 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs41428447 | RCV000196671|RCV000927692|RCV001098903; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161179298 | 161179298 | | | 1:g.161179298G>A | ClinGen:CA321095 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.628-17del | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs775653766 | RCV001335147|RCV002070198; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161179628 | 161179628 | | | 161179627 | - | | |
NM_001377299.1(NDUFS2):c.628-12C>T | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs202121443 | RCV000127149|RCV000286025|RCV002055706; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161179635 | 161179635 | | | 1:g.161179635C>T | ClinGen:CA292495 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.703-11T>G | 4720 | NDUFS2 | Uncertain significance | rs770054202 | RCV000984961; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161179890 | 161179890 | | | 1:g.161179890T>G | - | | |
NM_001377299.1(NDUFS2):c.866+8G>A | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs142594036 | RCV000127150|RCV000949872|RCV001098904; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161180187 | 161180187 | | | 1:g.161180187G>A | ClinGen:CA292496 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=) | 4720 | NDUFS2 | Uncertain significance | rs886045461 | RCV000397307; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161180381 | 161180381 | | | NC_000001.10:g.161180381T>C | ClinGen:CA10608552 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=) | 4720 | NDUFS2 | Uncertain significance | rs886045462 | RCV000284939; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161180417 | 161180417 | | | NC_000001.10:g.161180417C>T | ClinGen:CA10608513 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs144937332 | RCV000200866|RCV000346933|RCV000766503|RCV003133172; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228 | 1 | 161180473 | 161180473 | | | 1:g.161180473T>C | ClinGen:CA325447 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs35086265 | RCV000198518|RCV000224386|RCV000986449|RCV001098905; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161180482 | 161180482 | | | 1:g.161180482G>A | ClinGen:CA323026 | CN517202 not provided; | |
NM_001377299.1(NDUFS2):c.986+12A>G | 4720 | NDUFS2 | Benign/Likely benign | rs11265565 | RCV000127151|RCV000397312|RCV002055707; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161180512 | 161180512 | | | 1:g.161180512A>G | ClinGen:CA292497 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) | 4720 | NDUFS2 | Benign/Likely benign | rs11576415 | RCV000117711|RCV000306851|RCV000676342; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161182208 | 161182208 | | | 1:g.161182208C>G | ClinGen:CA153865,UniProtKB:O75306#VAR_034152 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs144411579 | RCV000725777|RCV001001527|RCV001100725|RCV002515415; | N | MedGen:CN517202|MONDO:MONDO:0032611,MedGen:C4748759,OMIM:618228|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 1 | 161183191 | 161183191 | | | 1:g.161183191C>G | ClinGen:CA321716 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) | 4720 | NDUFS2 | Uncertain significance | rs145959971 | RCV000199124|RCV000761488; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161183265 | 161183265 | | | 1:g.161183265G>A | ClinGen:CA323661 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.1212+7A>G | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs36233987 | RCV000363834|RCV000955805; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161183272 | 161183272 | | | NC_000001.10:g.161183272A>G | ClinGen:CA1208803 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) | 4720 | NDUFS2 | Uncertain significance | rs886045464 | RCV000315544; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161183441 | 161183441 | | | NC_000001.10:g.161183441A>G | ClinGen:CA10608144 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) | 4720 | NDUFS2 | Benign | rs1136207 | RCV000117712|RCV000367763|RCV000676343; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161183516 | 161183516 | | | 1:g.161183516C>T | ClinGen:CA153867 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1354+5G>A | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs190184430 | RCV000127152|RCV000275644|RCV001303885; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161183716 | 161183716 | | | 1:g.161183716G>A | ClinGen:CA292498 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1354+10C>A | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs201275792 | RCV000318843|RCV000840975; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161183721 | 161183721 | | | NC_000001.10:g.161183721C>A | ClinGen:CA1208856 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.1355-4C>G | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs147235167 | RCV000885375|RCV001100981; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161183942 | 161183942 | | | 1:g.161183942C>G | ClinGen:CA1208875 | CN169374 not specified; | |
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) | 4720 | NDUFS2 | Uncertain significance | rs140731056 | RCV001100982|RCV002556037; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161183958 | 161183958 | | | 1:g.161183958T>C | - | | |
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=) | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs149953813 | RCV000968828|RCV001100983; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161183962 | 161183962 | | | 1:g.161183962A>G | - | | |
NM_001377299.1(NDUFS2):c.*108A>T | 4720 | NDUFS2 | Conflicting interpretations of pathogenicity | rs191955041 | RCV000320283|RCV001539894; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161184091 | 161184091 | | | NC_000001.10:g.161184091A>T | ClinGen:CA10608146 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.*114A>G | 4720 | NDUFS2 | Benign | rs1136224 | RCV000377195|RCV001711872; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 1 | 161184097 | 161184097 | | | NC_000001.10:g.161184097A>G | ClinGen:CA10608523 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_001377299.1(NDUFS2):c.*187G>A | 4720 | NDUFS2 | Uncertain significance | rs886045469 | RCV000289999; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 1 | 161184170 | 161184170 | | | 1:g.161184170G>A | ClinGen:CA10607990 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004551.3(NDUFS3):c.-15C>G | 4722 | NDUFS3 | Uncertain significance | rs950097510 | RCV001103764|RCV001103765; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47600629 | 47600629 | | | 11:g.47600629C>G | - | | |
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) | 4722 | NDUFS3 | Uncertain significance | rs201457989 | RCV001103766|RCV001103767; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47600677 | 47600677 | | | 11:g.47600677C>T | - | | |
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs368907187 | RCV000197472|RCV000342182|RCV000403906|RCV002515416|RCV002517241; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 11 | 47600832 | 47600832 | | | NC_000011.9:g.47600832C>T | ClinGen:CA321939 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs770306617 | RCV000301677|RCV000358793|RCV000616791; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374 | 11 | 47600844 | 47600844 | | | 11:g.47600844T>C | ClinGen:CA5977804 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs141187412 | RCV000200026|RCV001105706|RCV001105707|RCV002515417; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 47600876 | 47600876 | | | NC_000011.9:g.47600876C>T | ClinGen:CA324576 | CN169374 not specified; | |
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) | 4722 | NDUFS3 | Uncertain significance | rs1555198759 | RCV000623097|RCV001105709|RCV001105708; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47602092 | 47602092 | | | 11:g.47602092G>A | ClinGen:CA380357590 | C0950123 Inborn genetic diseases; | |
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) | 4722 | NDUFS3 | Uncertain significance | rs886048391 | RCV000261687|RCV000300392; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 47602133 | 47602133 | | | 11:g.47602133T>C | ClinGen:CA10631038 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.381+5G>T | 4722 | NDUFS3 | Uncertain significance | rs886048392 | RCV000261462|RCV000352949; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47602541 | 47602541 | | | 11:g.47602541G>T | ClinGen:CA10635057 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.381+6T>C | 4722 | NDUFS3 | Uncertain significance | rs377579231 | RCV000332963|RCV000389911|RCV001374465|RCV001859811; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202 | 11 | 47602542 | 47602542 | | | 11:g.47602542T>C | ClinGen:CA5977940,OMIM:603846.0004 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) | 4722 | NDUFS3 | Uncertain significance | rs780005953 | RCV001106824|RCV001106825; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47603683 | 47603683 | | | 11:g.47603683G>A | - | | |
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs148331180 | RCV000331648|RCV000274500|RCV000884571; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 47603733 | 47603733 | | | NC_000011.9:g.47603733G>C | ClinGen:CA320767 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs77113494 | RCV000127155|RCV001000472|RCV000969794|RCV001107482|RCV001107483; | N | MedGen:CN169374|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47603984 | 47603984 | | | 11:g.47603984T>C | ClinGen:CA292502 | CN169374 not specified; | |
NM_004551.3(NDUFS3):c.628-7C>T | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs11039306 | RCV000127156|RCV000292090|RCV000383892|RCV000964320|RCV003114278; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230 | 11 | 47605859 | 47605859 | | | NC_000011.9:g.47605859C>T | ClinGen:CA292504 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs377323760 | RCV000325919|RCV000382544|RCV002056209; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 47605895 | 47605895 | | | NC_000011.9:g.47605895G>A | ClinGen:CA5978068 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) | 4722 | NDUFS3 | Uncertain significance | rs201371939 | RCV001107484|RCV001107485; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 47605975 | 47605975 | | | 11:g.47605975G>A | - | | |
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs3740654 | RCV000614898|RCV001103853|RCV001103854|RCV002531615; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 47605985 | 47605985 | | | 11:g.47605985G>A | ClinGen:CA5978089 | CN169374 not specified; | |
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) | 4722 | NDUFS3 | Uncertain significance | rs752314902 | RCV000285816|RCV000342978|RCV002520728; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 11 | 47605991 | 47605991 | | | NC_000011.9:g.47605991T>G | ClinGen:CA5978093 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) | 4722 | NDUFS3 | Conflicting interpretations of pathogenicity | rs117981655 | RCV000284678|RCV000406732|RCV000939941; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 47606021 | 47606021 | | | NC_000011.9:g.47606021T>C | ClinGen:CA5978099 | C0023264 256000 Leigh syndrome; | |
NM_004551.3(NDUFS3):c.*32G>A | 4722 | NDUFS3 | Uncertain significance | rs189495301 | RCV001103855|RCV001103856; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 47606065 | 47606065 | | | 11:g.47606065G>A | - | | |
NM_004551.3(NDUFS3):c.*39C>T | 4722 | NDUFS3 | Uncertain significance | rs145121567 | RCV001105801|RCV001105800; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 47606072 | 47606072 | | | 11:g.47606072C>T | - | | |
NM_002495.4(NDUFS4):c.-22C>A | 4724 | NDUFS4 | Uncertain significance | rs144843461 | RCV000268982|RCV000365896; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52856471 | 52856471 | | | 5:g.52856471C>A | ClinGen:CA3264111 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.-6A>T | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs73754255 | RCV000198638|RCV001151560|RCV001151559; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52856487 | 52856487 | | | 5:g.52856487A>T | ClinGen:CA323173 | CN169374 not specified; | |
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) | 4724 | NDUFS4 | Uncertain significance | rs148595893 | RCV001154571|RCV001154572|RCV001824417; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 52856497 | 52856497 | | | 5:g.52856497C>A | - | | |
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) | 4724 | NDUFS4 | Uncertain significance | rs1329465366 | RCV001154574|RCV001154573; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52856501 | 52856501 | | | 5:g.52856501G>T | - | | |
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs185711494 | RCV000335188|RCV000960853|RCV001154575|RCV001154576; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52856502 | 52856502 | | | 5:g.52856502G>C | ClinGen:CA325091 | CN169374 not specified; | |
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) | 4724 | NDUFS4 | Benign | rs2279516 | RCV000117713|RCV000326276|RCV000387876|RCV000676473; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 52856504 | 52856504 | | | 5:g.52856504G>C | ClinGen:CA153869 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs149323691 | RCV000198881|RCV000295911|RCV000329830|RCV000660466|RCV002517243; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MeSH:D030342,MedG | 5 | 52856505 | 52856505 | | | 5:g.52856505T>C | ClinGen:CA323413 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) | 4724 | NDUFS4 | Pathogenic | rs104893899 | RCV000007293; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52856536 | 52856536 | | | 5:g.52856536G>A | ClinGen:CA118550,OMIM:602694.0004 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) | 4724 | NDUFS4 | Uncertain significance | rs201430870 | RCV001155412|RCV001155411|RCV002559496; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52856569 | 52856569 | | | 5:g.52856569C>T | - | | |
NM_002495.4(NDUFS4):c.99-1G>A | 4724 | NDUFS4 | Pathogenic | rs376281345 | RCV000007294|RCV000588112; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52899281 | 52899281 | | | NC_000005.9:g.52899281G>A | ClinGen:CA3264179,OMIM:602694.0005 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs138941073 | RCV000127157|RCV000280441|RCV000386502|RCV000905987; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52899285 | 52899285 | | | NC_000005.9:g.52899285G>A | ClinGen:CA292505 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) | 4724 | NDUFS4 | Uncertain significance | rs1022912416 | RCV001157093|RCV001157094; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52899290 | 52899290 | | | 5:g.52899290G>A | - | | |
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs142368721 | RCV000906096|RCV001157095|RCV001157096; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52899333 | 52899333 | | | 5:g.52899333A>G | ClinGen:CA3264190 | CN169374 not specified; | |
NM_002495.4(NDUFS4):c.178-4G>C | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs200384843 | RCV000337873|RCV000395461|RCV002523527; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52942059 | 52942059 | | | 5:g.52942059G>C | ClinGen:CA3264238 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) | 4724 | NDUFS4 | Benign | rs31304 | RCV000117714|RCV000280222|RCV000342200|RCV000676474; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52942083 | 52942083 | | | 5:g.52942083A>C | ClinGen:CA153871 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) | 4724 | NDUFS4 | Pathogenic | rs121908985 | RCV000007291|RCV000484109|RCV002307358; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52942175 | 52942175 | | | NC_000005.9:g.52942176del | ClinGen:CA118547,OMIM:602694.0002 | | |
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) | 4724 | NDUFS4 | Benign | rs31303 | RCV000117715|RCV000302455|RCV000398452|RCV000676475; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 52942197 | 52942197 | | | 5:g.52942197A>G | ClinGen:CA153873 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) | 4724 | NDUFS4 | Pathogenic | rs104893898 | RCV000578296|RCV000735424|RCV002307359|RCV002298437; | N | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52942201 | 52942201 | | | 5:g.52942201C>T | ClinGen:CA118548,OMIM:602694.0003 | C1838951 Leigh syndrome due to mitochondrial complex I deficiency; | |
NM_002495.4(NDUFS4):c.350+5G>A | 4724 | NDUFS4 | Pathogenic | rs1751865973 | RCV001269385|RCV001291034; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010; Human Phenotype Ontology:HP:0003128,Human Phenotype Ontology:HP:0003255,Human Phenotype Ontology:HP:0005960,MONDO:MONDO:0006040,MedGen:C0001125; Human Phenotype Ontology:HP:0002376,Human Phenotype Ontology: | 5 | 52942240 | 52942240 | | | 5:g.52942240G>A | OMIM:602694.0007 | | |
NM_002495.4(NDUFS4):c.350+6T>C | 4724 | NDUFS4 | Uncertain significance | rs3733833 | RCV001151647|RCV001151648; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52942241 | 52942241 | | | 5:g.52942241T>C | - | | |
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs747359752 | RCV000714799|RCV000714800|RCV002532977; | N | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52954385 | 52954385 | | | NC_000005.9:g.52954385G>C | - | | |
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) | 4724 | NDUFS4 | Conflicting interpretations of pathogenicity | rs368876333 | RCV000911644|RCV001154689|RCV001154690; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52954390 | 52954390 | | | 5:g.52954390C>G | - | | |
NM_002495.4(NDUFS4):c.424+19dup | 4724 | NDUFS4 | Benign/Likely benign | rs140172554 | RCV000310876|RCV000363200|RCV001515833|RCV001778936|RCV002298576; | N | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 5 | 52954468 | 52954469 | | | 5:g.52954468_52954469insT | ClinGen:CA3264304 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) | 4724 | NDUFS4 | Pathogenic | rs587776949 | RCV000133549|RCV000197700|RCV000586784|RCV002513319; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123 | 5 | 52978982 | 52978982 | | | NC_000005.9:g.52978985del | ClinGen:CA130809,OMIM:602694.0006 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) | 4724 | NDUFS4 | Pathogenic/Likely pathogenic | rs1445075330 | RCV000007290|RCV001269113|RCV002508185; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52978987 | 52978988 | | | 5:g.52978987_52978988insCAAGT | OMIM:602694.0001 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) | 4724 | NDUFS4 | Likely pathogenic | rs766516611 | RCV001260294; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52978996 | 52978997 | | | 5:g.52978996_52978997insGTCTT | - | | |
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) | 4724 | NDUFS4 | Uncertain significance | rs768080528 | RCV001328959; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52979029 | 52979029 | | | 52979029 | - | | |
NM_002495.4(NDUFS4):c.*46G>A | 4724 | NDUFS4 | Benign | rs567 | RCV000270413|RCV000313869|RCV001653697; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 5 | 52979097 | 52979097 | | | 5:g.52979097G>A | ClinGen:CA3264378 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.*79A>G | 4724 | NDUFS4 | Uncertain significance | rs886060699 | RCV000274350|RCV000370910; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 52979130 | 52979130 | | | NC_000005.9:g.52979130A>G | ClinGen:CA10624967 | C0023264 256000 Leigh syndrome; | |
NM_002495.4(NDUFS4):c.*88T>A | 4724 | NDUFS4 | Uncertain significance | rs1740746273 | RCV001154692|RCV001154691; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 5 | 52979139 | 52979139 | | | 5:g.52979139T>A | - | | |
NM_004553.4(NDUFS6):c.-12C>T | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs145747389 | RCV000127158|RCV000328048|RCV001000551; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232 | 5 | 1801520 | 1801520 | | | 5:g.1801520C>T | ClinGen:CA292507 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) | 4726 | NDUFS6 | Uncertain significance | rs773943416 | RCV001151849; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 1801542 | 1801542 | | | 5:g.1801542C>T | - | | |
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs886060511 | RCV000384846|RCV000942799; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 1801555 | 1801555 | | | NC_000005.9:g.1801555C>T | ClinGen:CA10620253 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs376509886 | RCV000917913|RCV001151850|RCV001276588; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | 5 | 1801556 | 1801556 | | | 5:g.1801556C>T | - | | |
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=) | 4726 | NDUFS6 | Uncertain significance | rs886060512 | RCV000283526; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 1801558 | 1801558 | | | NC_000005.9:g.1801558G>C | ClinGen:CA10624440 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs755222875 | RCV001153088|RCV000901142|RCV001276589; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | 5 | 1801562 | 1801562 | | | 5:g.1801562C>G | - | | |
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr) | 4726 | NDUFS6 | Uncertain significance | rs768060274 | RCV000322258; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 1802457 | 1802457 | | | NC_000005.9:g.1802457G>C | ClinGen:CA10624315 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs140887831 | RCV000378962|RCV000909647|RCV001271674; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609 | 5 | 1814464 | 1814464 | | | NC_000005.9:g.1814464C>T | ClinGen:CA3187621 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.310-15T>C | 4726 | NDUFS6 | Benign | rs10058270 | RCV000287086|RCV001513342|RCV001543892; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032615,MedGen:C4748767,OMIM:618232 | 5 | 1815950 | 1815950 | | | NC_000005.9:g.1815950T>C | ClinGen:CA3187709 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.369C>T (p.His123=) | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs745565855 | RCV000335066|RCV002523518; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 1816024 | 1816024 | | | NC_000005.9:g.1816024C>T | ClinGen:CA3187728 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.*15C>T | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs200445799 | RCV000396662|RCV000444385; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 5 | 1816045 | 1816045 | | | NC_000005.9:g.1816045C>T | ClinGen:CA3187732 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.*27A>G | 4726 | NDUFS6 | Uncertain significance | rs370587409 | RCV000281355; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 1816057 | 1816057 | | | NC_000005.9:g.1816057A>G | ClinGen:CA3187739 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_004553.6(NDUFS6):c.*46C>T | 4726 | NDUFS6 | Conflicting interpretations of pathogenicity | rs145407020 | RCV001155705|RCV001541796; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 5 | 1816076 | 1816076 | | | 5:g.1816076C>T | - | | |
NM_004553.6(NDUFS6):c.*99G>C | 4726 | NDUFS6 | Uncertain significance | rs994577006 | RCV001155706; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 5 | 1816129 | 1816129 | | | 5:g.1816129G>C | - | | |
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) | 374291 | NDUFS7 | Uncertain significance | rs775410920 | RCV001126807|RCV001127210|RCV002556763|RCV002558250; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 19 | 1383930 | 1383930 | | | 19:g.1383930C>T | - | | |
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) | 374291 | NDUFS7 | Uncertain significance | rs201222388 | RCV000287249|RCV000400936; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 1387814 | 1387814 | | | NC_000019.9:g.1387814T>C | ClinGen:CA9043014 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) | 374291 | NDUFS7 | Uncertain significance | rs1193585808 | RCV001127211|RCV001127212; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 19 | 1387838 | 1387838 | | | 19:g.1387838T>G | - | | |
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) | 374291 | NDUFS7 | Benign | rs1142530 | RCV000117716|RCV000342300|RCV000407392|RCV000676449|RCV001544211; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032608,MedGen:C4748752,OMIM:618224 | 19 | 1388538 | 1388538 | | | 19:g.1388538C>T | ClinGen:CA153875,UniProtKB:O75251#VAR_014482 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs147710123 | RCV001123144|RCV001127213|RCV001698192; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 19 | 1388847 | 1388847 | | | 19:g.1388847G>A | ClinGen:CA9043125 | CN169374 not specified; | |
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs140236960 | RCV000127162|RCV000301558|RCV000365710|RCV000885712; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 19 | 1388862 | 1388862 | | | NC_000019.9:g.1388862C>T | ClinGen:CA292511 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) | 374291 | NDUFS7 | Uncertain significance | rs565395435 | RCV001123145|RCV001123146|RCV002556658; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 19 | 1388867 | 1388867 | | | 19:g.1388867C>T | - | | |
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs375120743 | RCV000307576|RCV000891844|RCV000405173; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 19 | 1390911 | 1390911 | | | NC_000019.9:g.1390911C>T | ClinGen:CA9043328 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) | 374291 | NDUFS7 | Uncertain significance | rs368174338 | RCV000277814|RCV000362301; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 1390963 | 1390963 | | | NC_000019.9:g.1390963G>A | ClinGen:CA9043332 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.408+10G>T | 374291 | NDUFS7 | Benign | rs2074896 | RCV000127163|RCV000332803|RCV000368788|RCV000676450; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 19 | 1391059 | 1391059 | | | NC_000019.9:g.1391059G>T | ClinGen:CA292513 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.455+13C>T | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs376025020 | RCV001124228|RCV001124230|RCV002558225; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 19 | 1391177 | 1391177 | | | 19:g.1391177C>T | - | | |
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs757488156 | RCV001124231|RCV001124232|RCV001569783; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 19 | 1393310 | 1393310 | | | 19:g.1393310C>T | - | | |
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) | 374291 | NDUFS7 | Uncertain significance | rs144570086 | RCV000274190|RCV000319795; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 19 | 1395406 | 1395406 | | | 19:g.1395406C>A | ClinGen:CA10642357 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) | 374291 | NDUFS7 | Uncertain significance | rs775856806 | RCV000197172|RCV000279854|RCV000374513|RCV002517244; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123 | 19 | 1395458 | 1395458 | | | 19:g.1395458C>G | ClinGen:CA321615 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.*8G>A | 374291 | NDUFS7 | Uncertain significance | rs756081375 | RCV000290128|RCV000398809; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 1395495 | 1395495 | | | 19:g.1395495G>A | ClinGen:CA9043498 | C0023264 256000 Leigh syndrome; | |
NM_024407.5(NDUFS7):c.*16C>T | 374291 | NDUFS7 | Conflicting interpretations of pathogenicity | rs573586959 | RCV000200114|RCV001127321|RCV001126907; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 19 | 1395503 | 1395503 | | | 19:g.1395503C>T | ClinGen:CA324673 | CN169374 not specified; | |
NM_024407.5(NDUFS7):c.*94G>A | 374291 | NDUFS7 | Uncertain significance | rs1329105128 | RCV001127322|RCV001127323; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 19 | 1395581 | 1395581 | | | 19:g.1395581G>A | - | | |
NM_002496.4(NDUFS8):c.-45A>C | 4728 | NDUFS8 | Benign/Likely benign | rs4147776 | RCV000127164|RCV001108401|RCV001108402; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67798156 | 67798156 | | | NC_000011.9:g.67798156A>C | ClinGen:CA292514 | CN169374 not specified; | |
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs150278938 | RCV000726015|RCV000765008|RCV001108403|RCV002517245; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 11 | 67799622 | 67799622 | | | NC_000011.9:g.67799622C>T | ClinGen:CA324025 | | |
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) | 4728 | NDUFS8 | Uncertain significance | rs139334907 | RCV001103230|RCV001103231; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67799623 | 67799623 | | | 11:g.67799623G>A | - | | |
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs142658611 | RCV000923575|RCV001103232|RCV001103233; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67799637 | 67799637 | | | 11:g.67799637C>A | - | | |
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) | 4728 | NDUFS8 | Uncertain significance | rs764943259 | RCV000317408|RCV000372098; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67800413 | 67800413 | | | 11:g.67800413G>A | ClinGen:CA6146386 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.199+5G>A | 4728 | NDUFS8 | Uncertain significance | rs373522607 | RCV000282341|RCV000337029; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67800484 | 67800484 | | | NC_000011.9:g.67800484G>A | ClinGen:CA6146399 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.199+15T>G | 4728 | NDUFS8 | Benign | rs3115545 | RCV000283040|RCV000377576|RCV001515841|RCV001778899; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032606,MedGen:C4748737,OMIM:618222 | 11 | 67800494 | 67800494 | | | NC_000011.9:g.67800494T>G | ClinGen:CA6146400 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.200-14C>T | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs373128833 | RCV000342747|RCV000401109|RCV002520746; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67800564 | 67800564 | | | NC_000011.9:g.67800564C>T | ClinGen:CA6146422 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs144125742 | RCV000431887|RCV000676967|RCV001111479|RCV001111480; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67800633 | 67800633 | | | 11:g.67800633G>A | ClinGen:CA6146432 | CN517202 not provided; | |
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) | 4728 | NDUFS8 | Uncertain significance | rs746246241 | RCV001111482|RCV001111481; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67800647 | 67800647 | | | 11:g.67800647C>T | - | | |
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs748754134 | RCV000307867|RCV000344135|RCV000490220; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67800677 | 67800677 | | | NC_000011.9:g.67800677C>T | ClinGen:CA6146437 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs149201273 | RCV000308579|RCV000390917|RCV000907728; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67803806 | 67803806 | | | NC_000011.9:g.67803806C>T | ClinGen:CA6146535 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.501+12C>G | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs372004236 | RCV000367973|RCV000390827|RCV002056233; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67803860 | 67803860 | | | NC_000011.9:g.67803860C>G | ClinGen:CA10631392 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.502-13C>T | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs199793417 | RCV000314847|RCV000369510|RCV000427186|RCV002056234; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202 | 11 | 67803916 | 67803916 | | | NC_000011.9:g.67803916C>T | ClinGen:CA6146555 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.502-10C>T | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs369961682 | RCV000260796|RCV000315895|RCV000602666|RCV000898642; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202 | 11 | 67803919 | 67803919 | | | NC_000011.9:g.67803919C>T | ClinGen:CA6146557 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) | 4728 | NDUFS8 | Uncertain significance | rs1371377502 | RCV001114883|RCV001114884; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67804001 | 67804001 | | | 11:g.67804001G>A | - | | |
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) | 4728 | NDUFS8 | Conflicting interpretations of pathogenicity | rs1804688 | RCV000265926|RCV000356692|RCV001718621; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67804024 | 67804024 | | | NC_000011.9:g.67804024C>T | ClinGen:CA6146575 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) | 4728 | NDUFS8 | Uncertain significance | rs578145610 | RCV000321000|RCV000380344|RCV002520747; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67804025 | 67804025 | | | NC_000011.9:g.67804025G>A | ClinGen:CA6146577 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.*26T>G | 4728 | NDUFS8 | Uncertain significance | rs886048592 | RCV000291771|RCV000381321; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67804086 | 67804086 | | | NC_000011.9:g.67804086T>G | ClinGen:CA10631394 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.*44C>T | 4728 | NDUFS8 | Uncertain significance | rs201815115 | RCV000293152|RCV000352578; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67804104 | 67804104 | | | NC_000011.9:g.67804104C>T | ClinGen:CA6146595 | C0023264 256000 Leigh syndrome; | |
NM_002496.4(NDUFS8):c.*14C>T | -1 | NDUFS8;TCIRG1 | Benign/Likely benign | rs1051806 | RCV000285968|RCV000313524|RCV000326666|RCV001114885|RCV001653506; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454, Orphanet:2781|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C | 11 | 67804074 | 67804074 | | | NC_000011.9:g.67804074C>T | ClinGen:CA6146588 | C0023264 256000 Leigh syndrome; | |
NM_007103.3(NDUFV1):c.-159G>T | 4723 | NDUFV1 | Uncertain significance | rs1387676031 | RCV001108143|RCV001108142; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67374317 | 67374317 | | | 11:g.67374317G>T | - | | |
NM_007103.3(NDUFV1):c.-111T>C | 4723 | NDUFV1 | Uncertain significance | rs563140258 | RCV000270772|RCV000363161; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67374365 | 67374365 | | | NC_000011.9:g.67374365T>C | ClinGen:CA10631380 | C0023264 256000 Leigh syndrome; | |
NM_007103.3(NDUFV1):c.-74T>C | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs373383800 | RCV001102922|RCV001102923|RCV001568735; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67374402 | 67374402 | | | 11:g.67374402T>C | - | | |
NM_007103.4(NDUFV1):c.-66G>A | 4723 | NDUFV1 | Benign | rs73490568 | RCV000332823|RCV000389913|RCV001612968; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67374410 | 67374410 | | | NC_000011.9:g.67374410G>A | ClinGen:CA10639223 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.-61A>G | 4723 | NDUFV1 | Uncertain significance | rs947406124 | RCV001102924|RCV001102925; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67374415 | 67374415 | | | 11:g.67374415A>G | - | | |
NM_007103.4(NDUFV1):c.-45T>G | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs373940385 | RCV000196176|RCV000331800|RCV000274501; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67374431 | 67374431 | | | 11:g.67374431T>G | ClinGen:CA320601 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.-34T>A | 4723 | NDUFV1 | Uncertain significance | rs886048586 | RCV000281628|RCV000374785; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67374442 | 67374442 | | | NC_000011.9:g.67374442T>A | ClinGen:CA10635497 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.72+15G>T | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs187400726 | RCV000127169|RCV000315626|RCV000372683|RCV002055710; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67374562 | 67374562 | | | NC_000011.9:g.67374562G>T | ClinGen:CA292522 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) | 4723 | NDUFV1 | Uncertain significance | rs201727252 | RCV001104844|RCV001104845|RCV002556072; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67375895 | 67375895 | | | 11:g.67375895C>T | - | | |
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln) | 4723 | NDUFV1 | Uncertain significance | rs141502688 | RCV000624727|RCV001333607|RCV001860446; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67375913 | 67375913 | | | NC_000011.9:g.67375913G>A | ClinGen:CA6143081 | C0950123 Inborn genetic diseases; | |
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs11540012 | RCV000199787|RCV000285221|RCV000342561|RCV000676963; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67375944 | 67375944 | | | 11:g.67375944C>T | ClinGen:CA324342 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.155+12C>T | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs199963966 | RCV000444487|RCV001105991|RCV001105992|RCV002062380; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67375961 | 67375961 | | | 11:g.67375961C>T | ClinGen:CA6143092 | CN169374 not specified; | |
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs201727685 | RCV000413903|RCV000853290|RCV001331690|RCV003133247; | N | MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 | 11 | 67376033 | 67376033 | | | 11:g.67376033T>C | ClinGen:CA6143106 | CN517202 not provided; | |
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr) | 4723 | NDUFV1 | Uncertain significance | rs201727685 | RCV001331689|RCV002546502; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67376033 | 67376033 | | | 67376033 | - | | |
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs199543483 | RCV000284822|RCV000393780|RCV000424374|RCV000939143; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 11 | 67376072 | 67376072 | | | NC_000011.9:g.67376072C>T | ClinGen:CA6143111 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) | 4723 | NDUFV1 | Uncertain significance | rs886048587 | RCV000346779|RCV000393779; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67376085 | 67376085 | | | NC_000011.9:g.67376085C>T | ClinGen:CA10631381 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.326+12G>A | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs184136353 | RCV000307097|RCV000363981|RCV002056232; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67376205 | 67376205 | | | NC_000011.9:g.67376205G>A | ClinGen:CA6143135 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) | 4723 | NDUFV1 | Uncertain significance | rs886048588 | RCV000315055|RCV000390796; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67376929 | 67376929 | | | NC_000011.9:g.67376929G>T | ClinGen:CA10639908 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met) | 4723 | NDUFV1 | Uncertain significance | rs751551838 | RCV001333611|RCV001859314; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67376939 | 67376939 | | | 67376939 | - | | |
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs140445386 | RCV000275192|RCV000367341|RCV000444047|RCV000880288; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374|MedGen:CN517202 | 11 | 67376962 | 67376962 | | | NC_000011.9:g.67376962G>A | ClinGen:CA6143155 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly) | 4723 | NDUFV1 | Likely pathogenic | -1 | RCV001806398; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67376976 | 67376976 | | | 67376976 | - | | |
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs144087607 | RCV000925053|RCV001108218|RCV001108219; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67377028 | 67377028 | | | 11:g.67377028G>T | - | | |
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) | 4723 | NDUFV1 | Uncertain significance | rs143216424 | RCV001108220|RCV001108221; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67377042 | 67377042 | | | 11:g.67377042T>C | - | | |
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) | 4723 | NDUFV1 | Uncertain significance | rs151144350 | RCV000518994|RCV000765007|RCV002252155; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010| | 11 | 67377050 | 67377050 | | | 11:g.67377050C>T | ClinGen:CA6143178 | CN169374 not specified; | |
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) | 4723 | NDUFV1 | Uncertain significance | rs773368756 | RCV001333612|RCV002546640; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67377095 | 67377095 | | | 67377095 | - | | |
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) | 4723 | NDUFV1 | Uncertain significance | rs551603121 | RCV000260749|RCV000322932; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67377871 | 67377871 | | | NC_000011.9:g.67377871A>G | ClinGen:CA6143207 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) | 4723 | NDUFV1 | Benign | rs10896187 | RCV000127166|RCV000283254|RCV000379810|RCV000676965; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67377890 | 67377890 | | | NC_000011.9:g.67377890C>G | ClinGen:CA292517 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs142982022 | RCV000321979|RCV000383441|RCV000523777; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67377904 | 67377904 | | | NC_000011.9:g.67377904G>A | ClinGen:CA6143212 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs151104852 | RCV000898339|RCV001103034|RCV001103033; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67377938 | 67377938 | | | 11:g.67377938C>T | - | | |
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) | 4723 | NDUFV1 | Uncertain significance | rs886048589 | RCV000291492|RCV000343621; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67377947 | 67377947 | | | NC_000011.9:g.67377947G>A | ClinGen:CA10631385 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.700+12C>T | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs200417926 | RCV000196215|RCV001104932|RCV001104931|RCV002517246; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67378053 | 67378053 | | | 11:g.67378053C>T | ClinGen:CA320641 | CN169374 not specified; | |
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs755312472 | RCV000988584|RCV001104933|RCV001869354; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67378531 | 67378531 | | | 11:g.67378531C>T | - | | |
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) | 4723 | NDUFV1 | Uncertain significance | rs141400889 | RCV000195680|RCV000390228|RCV000294572|RCV001762416|RCV002517247; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MeSH:D030342,MedGen:C0950123 | 11 | 67378565 | 67378565 | | | 11:g.67378565G>A | ClinGen:CA320044 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs150859374 | RCV000351838|RCV000392952|RCV000885478; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67378584 | 67378584 | | | NC_000011.9:g.67378584C>T | ClinGen:CA6143291 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs139299777 | RCV000917470|RCV001106099|RCV001106100; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67378596 | 67378596 | | | 11:g.67378596C>T | ClinGen:CA6143295 | CN169374 not specified; | |
NM_007103.4(NDUFV1):c.843T>C (p.His281=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs766555879 | RCV000312468|RCV000355545|RCV000907358; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67378608 | 67378608 | | | NC_000011.9:g.67378608T>C | ClinGen:CA6143296 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys) | 4723 | NDUFV1 | Uncertain significance | rs1017020344 | RCV001333613; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67378636 | 67378636 | | | 67378636 | - | | |
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) | 4723 | NDUFV1 | Uncertain significance | rs573896386 | RCV000297655|RCV000392931|RCV002469124; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 11 | 67378669 | 67378669 | | | 11:g.67378669A>G | ClinGen:CA6143303 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) | 4723 | NDUFV1 | Uncertain significance | rs1432435322 | RCV001108321|RCV001108322; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67378889 | 67378889 | | | 11:g.67378889G>T | - | | |
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) | 4723 | NDUFV1 | Uncertain significance | rs371426372 | RCV000267146|RCV000354895; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67378977 | 67378977 | | | 11:g.67378977C>T | ClinGen:CA6143362 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) | 4723 | NDUFV1 | Benign | rs11227859 | RCV000127167|RCV000305888|RCV000358134|RCV000676966; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67379016 | 67379016 | | | 11:g.67379016T>C | ClinGen:CA292519 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs142499054 | RCV000265767|RCV000327949|RCV000761787; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67379035 | 67379035 | | | 11:g.67379035C>T | ClinGen:CA6143373 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) | 4723 | NDUFV1 | Uncertain significance | rs372208500 | RCV000269669|RCV000384838|RCV001815309|RCV002520742; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 11 | 67379039 | 67379039 | | | 11:g.67379039C>T | ClinGen:CA6143375 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) | 4723 | NDUFV1 | Uncertain significance | rs376958800 | RCV000195640|RCV000327027|RCV000388550; | N | MedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67379389 | 67379389 | | | 11:g.67379389G>A | ClinGen:CA320007 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) | 4723 | NDUFV1 | Pathogenic/Likely pathogenic | rs150966634 | RCV000482108|RCV001004858|RCV001662464; | N | MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225 | 11 | 67379443 | 67379443 | | | 11:g.67379443C>T | ClinGen:CA6143413 | CN517202 not provided; | |
NM_007103.4(NDUFV1):c.1162+4A>C | 4723 | NDUFV1 | Pathogenic/Likely pathogenic | rs199683937 | RCV000015104|RCV000414504|RCV000763270|RCV001778956; | N | MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67379453 | 67379453 | | | 11:g.67379453A>C | ClinGen:CA6143415,OMIM:161015.0005 | CN517202 not provided; | |
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met) | 4723 | NDUFV1 | Uncertain significance | rs774750411 | RCV001337051|RCV002547363; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 11 | 67379626 | 67379626 | | | 67379626 | - | | |
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) | 4723 | NDUFV1 | Uncertain significance | rs145602077 | RCV001291734|RCV001333608|RCV001587322; | N | MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67379641 | 67379641 | | | 67379641 | - | | |
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) | 4723 | NDUFV1 | Uncertain significance | rs753686111 | RCV001103126|RCV001103127; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67379645 | 67379645 | | | 11:g.67379645C>T | - | | |
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) | 4723 | NDUFV1 | Uncertain significance | rs1854932368 | RCV001103129|RCV001103128; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67379661 | 67379661 | | | 11:g.67379661C>T | - | | |
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) | 4723 | NDUFV1 | Pathogenic/Likely pathogenic | rs121913659 | RCV000015100|RCV000200093|RCV000735412|RCV000763271|RCV002468969; | N | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506 | 11 | 67379696 | 67379696 | | | 11:g.67379696C>T | ClinGen:CA123735,UniProtKB:P49821#VAR_008847,OMIM:161015.0001 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs147719815 | RCV000426011|RCV001105039|RCV001105040; | N | MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67379697 | 67379697 | | | 11:g.67379697G>A | ClinGen:CA6143466 | CN169374 not specified; | |
NM_007103.4(NDUFV1):c.1308+7A>T | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs767679135 | RCV001105041|RCV001105042|RCV002558047; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67379743 | 67379743 | | | 11:g.67379743A>T | - | | |
NM_007103.4(NDUFV1):c.1309-9C>T | 4723 | NDUFV1 | Conflicting interpretations of pathogenicity | rs374581520 | RCV000281538|RCV000387593|RCV000930807; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202 | 11 | 67379834 | 67379834 | | | 11:g.67379834C>T | ClinGen:CA6143498 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp) | 4723 | NDUFV1 | Uncertain significance | rs778206888 | RCV001333609|RCV001865787|RCV002546639; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 11 | 67379861 | 67379861 | | | 67379861 | - | | |
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) | 4723 | NDUFV1 | Uncertain significance | rs768582587 | RCV000338882|RCV000391889|RCV002520744|RCV002520745; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 11 | 67379887 | 67379887 | | | 11:g.67379887G>T | ClinGen:CA6143512 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) | 4723 | NDUFV1 | Uncertain significance | rs368184231 | RCV001106192|RCV001106191; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67379889 | 67379889 | | | 11:g.67379889G>A | - | | |
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) | 4723 | NDUFV1 | Uncertain significance | rs372047256 | RCV000303945|RCV000342474|RCV001196497|RCV001333610|RCV001859819; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032609,MedGen:C4748753,OMIM:618225|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 11 | 67379912 | 67379912 | | | 11:g.67379912C>T | ClinGen:CA6143522 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.*14C>T | 4723 | NDUFV1 | Uncertain significance | rs886048590 | RCV000304897|RCV000391895; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67379943 | 67379943 | | | 11:g.67379943C>T | ClinGen:CA10635501 | C0023264 256000 Leigh syndrome; | |
NM_007103.4(NDUFV1):c.*79C>T | 4723 | NDUFV1 | Benign/Likely benign | rs76839099 | RCV000269563|RCV000364194; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 11 | 67380008 | 67380008 | | | 11:g.67380008C>T | ClinGen:CA10635505 | C0023264 256000 Leigh syndrome; | |
NM_021074.5(NDUFV2):c.-39G>T | 4729 | NDUFV2 | Uncertain significance | rs748188888 | RCV000306336; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9102703 | 9102703 | | | NC_000018.9:g.9102703G>T | ClinGen:CA10652161 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.-30G>T | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs139650842 | RCV000370310|RCV001672548; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9102712 | 9102712 | | | NC_000018.9:g.9102712G>T | ClinGen:CA8887006 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.-13A>G | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs369562850 | RCV001123060|RCV001720062; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9102729 | 9102729 | | | 18:g.9102729A>G | ClinGen:CA8887009 | CN169374 not specified; | |
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs547252886 | RCV001123061|RCV002070012; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9102747 | 9102747 | | | 18:g.9102747C>T | - | | |
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs559485096 | RCV000401738|RCV001329208|RCV001545608; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229|MedGen:CN517202 | 18 | 9102758 | 9102758 | | | NC_000018.9:g.9102758C>G | ClinGen:CA8887025 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) | 4729 | NDUFV2 | Uncertain significance | rs1035730836 | RCV001329833; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9102770 | 9102770 | | | 9102770 | - | | |
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) | 4729 | NDUFV2 | Benign | rs906807 | RCV000009621|RCV000117718|RCV000312272|RCV000676827|RCV001000212; | N | MONDO:MONDO:0010796,MedGen:C1838867,OMIM:556500|MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229 | 18 | 9117867 | 9117867 | | | 18:g.9117867T>C | ClinGen:CA254625,UniProtKB:P19404#VAR_016167,OMIM:600532.0001 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.120+1G>C | 4729 | NDUFV2 | Uncertain significance | rs749991624 | RCV000779248; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9117902 | 9117902 | | | NC_000018.9:g.9117902G>C | - | | |
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) | 4729 | NDUFV2 | Benign | rs41274300 | RCV000117717|RCV000366995|RCV000676828|RCV000999964; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032612,MedGen:C4748760,OMIM:618229 | 18 | 9119489 | 9119489 | | | 18:g.9119489A>T | ClinGen:CA153877 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.301-10A>G | 4729 | NDUFV2 | Uncertain significance | rs756241126 | RCV000262462; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9122501 | 9122501 | | | NC_000018.9:g.9122501A>G | ClinGen:CA8887183 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) | 4729 | NDUFV2 | Uncertain significance | rs886054124 | RCV000319919; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9122625 | 9122625 | | | NC_000018.9:g.9122625C>A | ClinGen:CA10648120 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) | 4729 | NDUFV2 | Uncertain significance | rs771236417 | RCV000779249; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9122644 | 9122645 | | | NC_000018.9:g.9122645dup | - | | |
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) | 4729 | NDUFV2 | Uncertain significance | rs2077948602 | RCV001124129; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9122652 | 9122652 | | | 18:g.9122652A>C | - | | |
NM_021074.5(NDUFV2):c.469+12A>G | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs538112556 | RCV001124130|RCV002556688; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9122691 | 9122691 | | | 18:g.9122691A>G | - | | |
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs201074358 | RCV000353703|RCV000614024|RCV000903810; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 18 | 9124912 | 9124912 | | | NC_000018.9:g.9124912T>C | ClinGen:CA8887240 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) | 4729 | NDUFV2 | Conflicting interpretations of pathogenicity | rs143576401 | RCV000261114|RCV000911516; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9124948 | 9124948 | | | NC_000018.9:g.9124948C>T | ClinGen:CA8887245 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.580-12T>A | 4729 | NDUFV2 | Benign/Likely benign | rs114558512 | RCV000127173|RCV000323330|RCV001516535; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 18 | 9126817 | 9126817 | | | NC_000018.9:g.9126817T>A | ClinGen:CA292526 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) | 4729 | NDUFV2 | Uncertain significance | rs1372175274 | RCV001126798; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9134205 | 9134205 | | | 18:g.9134205G>A | - | | |
NM_021074.5(NDUFV2):c.*51A>C | 4729 | NDUFV2 | Uncertain significance | rs1188007874 | RCV001126799; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9134328 | 9134328 | | | 18:g.9134328A>C | - | | |
NM_021074.5(NDUFV2):c.*57C>T | 4729 | NDUFV2 | Uncertain significance | rs977177603 | RCV001126800; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 18 | 9134334 | 9134334 | | | 18:g.9134334C>T | - | | |
NM_025152.3(NUBPL):c.-25A>G | 80224 | NUBPL | Uncertain significance | rs749942385 | RCV000342502; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32030621 | 32030621 | | | NC_000014.8:g.32030621A>G | ClinGen:CA7147676 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.-13A>G | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs754769393 | RCV000378355|RCV001705469; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32030633 | 32030633 | | | NC_000014.8:g.32030633A>G | ClinGen:CA7147680 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.-7C>T | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs201073307 | RCV000279303|RCV000444428; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374 | 14 | 32030639 | 32030639 | | | NC_000014.8:g.32030639C>T | ClinGen:CA7147683 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.-1C>T | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs45468395 | RCV000127267|RCV000335330|RCV000676600; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32030645 | 32030645 | | | 14:g.32030645C>T | ClinGen:CA292627 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) | 80224 | NUBPL | Uncertain significance | rs765747555 | RCV001110083|RCV002556155; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32030649 | 32030649 | | | 14:g.32030649G>C | - | | |
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) | 80224 | NUBPL | Uncertain significance | rs751219189 | RCV001110084; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32030670 | 32030670 | | | 14:g.32030670C>T | - | | |
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) | 80224 | NUBPL | Uncertain significance | rs886050447 | RCV000395507; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32030691 | 32030691 | | | NC_000014.8:g.32030691C>T | ClinGen:CA10644080 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs556060060 | RCV001110085|RCV001823182; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32030716 | 32030716 | | | 14:g.32030716C>T | - | | |
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs77539990 | RCV000300305|RCV000375839|RCV000676601; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374|MedGen:CN517202 | 14 | 32030722 | 32030722 | | | 14:g.32030722G>T | ClinGen:CA7147707 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) | 80224 | NUBPL | Uncertain significance | rs773747183 | RCV001110846; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32030735 | 32030735 | | | 14:g.32030735G>A | - | | |
NM_025152.3(NUBPL):c.109-11A>T | 80224 | NUBPL | Uncertain significance | rs886050448 | RCV000350566; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32031263 | 32031263 | | | NC_000014.8:g.32031263A>T | ClinGen:CA10640076 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs34570972 | RCV000197028|RCV000395434|RCV000893957; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32031327 | 32031327 | | | NC_000014.8:g.32031327C>T | ClinGen:CA321462 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) | 80224 | NUBPL | Uncertain significance | rs771326763 | RCV000315529; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32031364 | 32031364 | | | NC_000014.8:g.32031364A>G | ClinGen:CA7147743 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.256+14T>C | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs377077969 | RCV000200815|RCV001110847|RCV002054335; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32031435 | 32031435 | | | NC_000014.8:g.32031435T>C | ClinGen:CA325398 | CN169374 not specified; | |
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs373232503 | RCV000370184|RCV000910512; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32034248 | 32034248 | | | NC_000014.8:g.32034248C>T | ClinGen:CA7147771 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) | 80224 | NUBPL | Uncertain significance | rs886050449 | RCV000270914; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32034249 | 32034249 | | | NC_000014.8:g.32034249G>A | ClinGen:CA10640079 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) | 80224 | NUBPL | Uncertain significance | rs2033400591 | RCV001110848; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32034250 | 32034250 | | | 14:g.32034250A>T | - | | |
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs755482148 | RCV000306925|RCV002522302; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32068572 | 32068572 | | | NC_000014.8:g.32068572G>A | ClinGen:CA7147817 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) | 80224 | NUBPL | Uncertain significance | rs143612760 | RCV000366282|RCV001850654; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32142561 | 32142561 | | | NC_000014.8:g.32142561G>A | ClinGen:CA7147853 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) | 80224 | NUBPL | Uncertain significance | rs886050450 | RCV000271714; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32142562 | 32142562 | | | NC_000014.8:g.32142562C>T | ClinGen:CA10644086 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) | 80224 | NUBPL | Uncertain significance | rs201412882 | RCV001112837|RCV002252052|RCV001853185|RCV002517249; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010||MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 14 | 32142591 | 32142591 | | | 14:g.32142591G>A | - | | |
NM_025152.3(NUBPL):c.422+8T>C | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs868061310 | RCV000422901|RCV001112838|RCV001428445; | N | MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32142608 | 32142608 | | | 14:g.32142608T>C | ClinGen:CA16606986 | CN169374 not specified; | |
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) | 80224 | NUBPL | Uncertain significance | rs781341998 | RCV000322099|RCV001853186; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32142755 | 32142755 | | | NC_000014.8:g.32142755C>T | ClinGen:CA319756 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs61752327 | RCV000358282|RCV000432198|RCV001094169; | N | MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32257017 | 32257017 | | | 14:g.32257017T>C | ClinGen:CA321423 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.573G>A (p.Val191=) | 80224 | NUBPL | Uncertain significance | rs886050451 | RCV000268262; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32257045 | 32257045 | | | NC_000014.8:g.32257045G>A | ClinGen:CA10644088 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs11558436 | RCV000423853|RCV000662087|RCV001114184|RCV001267134; | N | MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123 | 14 | 32257065 | 32257065 | | | NC_000014.8:g.32257065A>C | ClinGen:CA323390,UniProtKB:Q8TB37#VAR_027895 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) | 80224 | NUBPL | Uncertain significance | rs543089711 | RCV000323385; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32257075 | 32257075 | | | NC_000014.8:g.32257075A>C | ClinGen:CA7147907 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs35330765 | RCV000373408|RCV000908212; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32295866 | 32295866 | | | NC_000014.8:g.32295866C>T | ClinGen:CA7147936 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) | 80224 | NUBPL | Uncertain significance | rs79498789 | RCV000281828; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32295904 | 32295904 | | | NC_000014.8:g.32295904G>A | ClinGen:CA7147944 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs35867418 | RCV000318148|RCV000963310; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32295912 | 32295912 | | | 14:g.32295912C>T | ClinGen:CA320820 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.777A>G (p.Ala259=) | 80224 | NUBPL | Uncertain significance | rs368513010 | RCV001114185; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32315760 | 32315760 | | | 14:g.32315760A>G | - | | |
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) | 80224 | NUBPL | Uncertain significance | rs770850110 | RCV000386623; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32319404 | 32319404 | | | NC_000014.8:g.32319404T>A | ClinGen:CA7148005 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*26C>G | 80224 | NUBPL | Likely benign | rs76130953 | RCV001114186|RCV001585986; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32328412 | 32328412 | | | 14:g.32328412C>G | - | | |
NM_025152.3(NUBPL):c.*72T>C | 80224 | NUBPL | Uncertain significance | rs975175643 | RCV001110155; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328458 | 32328458 | | | 14:g.32328458T>C | - | | |
NM_025152.3(NUBPL):c.*122G>C | 80224 | NUBPL | Benign | rs4981131 | RCV000292306|RCV001642971; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32328508 | 32328508 | | | 14:g.32328508G>C | ClinGen:CA10645192 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*135T>G | 80224 | NUBPL | Uncertain significance | rs377738028 | RCV000351828; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328521 | 32328521 | | | 14:g.32328521T>G | ClinGen:CA10634779 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*188T>C | 80224 | NUBPL | Uncertain significance | rs569141248 | RCV000403347; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328574 | 32328574 | | | 14:g.32328574T>C | ClinGen:CA10645196 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*237G>T | 80224 | NUBPL | Uncertain significance | rs1566603021 | RCV001110156; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328623 | 32328623 | | | 14:g.32328623G>T | - | | |
NM_025152.3(NUBPL):c.*273C>T | 80224 | NUBPL | Benign | rs76188062 | RCV000288716|RCV001711929; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32328659 | 32328659 | | | 14:g.32328659C>T | ClinGen:CA10645197 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*301G>T | 80224 | NUBPL | Uncertain significance | rs189475622 | RCV001110157; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328687 | 32328687 | | | 14:g.32328687G>T | - | | |
NM_025152.3(NUBPL):c.*312G>A | 80224 | NUBPL | Benign | rs10162516 | RCV000343669; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328698 | 32328698 | | | 14:g.32328698G>A | ClinGen:CA10645198 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*323G>T | 80224 | NUBPL | Uncertain significance | rs2040678852 | RCV001110916; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328709 | 32328709 | | | 14:g.32328709G>T | - | | |
NM_025152.3(NUBPL):c.*344T>C | 80224 | NUBPL | Uncertain significance | rs572496732 | RCV001110917; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328730 | 32328730 | | | 14:g.32328730T>C | - | | |
NM_025152.3(NUBPL):c.*355T>C | 80224 | NUBPL | Uncertain significance | rs886050452 | RCV000394819; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328741 | 32328741 | | | 14:g.32328741T>C | ClinGen:CA10644089 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*357C>G | 80224 | NUBPL | Uncertain significance | rs576520205 | RCV000309061; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328743 | 32328743 | | | 14:g.32328743C>G | ClinGen:CA10644096 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*444C>T | 80224 | NUBPL | Benign | rs10162515 | RCV000359195; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328830 | 32328830 | | | 14:g.32328830C>T | ClinGen:CA10640080 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*527G>A | 80224 | NUBPL | Uncertain significance | rs560274677 | RCV000394816; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328913 | 32328913 | | | 14:g.32328913G>A | ClinGen:CA10644097 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*561G>A | 80224 | NUBPL | Uncertain significance | rs189555353 | RCV000360332; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32328947 | 32328947 | | | 14:g.32328947G>A | ClinGen:CA10640082 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*638C>G | 80224 | NUBPL | Uncertain significance | rs886050454 | RCV000260827; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329024 | 32329024 | | | 14:g.32329024C>G | ClinGen:CA10634780 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*736C>G | 80224 | NUBPL | Conflicting interpretations of pathogenicity | rs111321293 | RCV001112909|RCV002264189; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 14 | 32329122 | 32329122 | | | 14:g.32329122C>G | - | | |
NM_025152.3(NUBPL):c.*742C>G | 80224 | NUBPL | Uncertain significance | rs760265792 | RCV001112910; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329128 | 32329128 | | | 14:g.32329128C>G | - | | |
NM_025152.3(NUBPL):c.*806A>G | 80224 | NUBPL | Uncertain significance | rs139044047 | RCV001112911; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329192 | 32329192 | | | 14:g.32329192A>G | - | | |
NM_025152.3(NUBPL):c.*817T>A | 80224 | NUBPL | Uncertain significance | rs2040686751 | RCV001112912; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329203 | 32329203 | | | 14:g.32329203T>A | - | | |
NM_025152.3(NUBPL):c.*836C>G | 80224 | NUBPL | Benign | rs10147479 | RCV000316109; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329222 | 32329222 | | | 14:g.32329222C>G | ClinGen:CA10645203 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*850C>T | 80224 | NUBPL | Uncertain significance | rs370650416 | RCV001112913; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329236 | 32329236 | | | 14:g.32329236C>T | - | | |
NM_025152.3(NUBPL):c.*864C>T | 80224 | NUBPL | Uncertain significance | rs996734164 | RCV001112914; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329250 | 32329250 | | | 14:g.32329250C>T | - | | |
NM_025152.3(NUBPL):c.*905A>C | 80224 | NUBPL | Uncertain significance | rs750277296 | RCV000357065; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329291 | 32329291 | | | 14:g.32329291A>C | ClinGen:CA10640083 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*995T>C | 80224 | NUBPL | Benign | rs10136892 | RCV000262171; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329381 | 32329381 | | | 14:g.32329381T>C | ClinGen:CA10640084 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1015C>A | 80224 | NUBPL | Uncertain significance | rs551958784 | RCV000331454; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329401 | 32329401 | | | 14:g.32329401C>A | ClinGen:CA10645204 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1047C>T | 80224 | NUBPL | Uncertain significance | rs913575962 | RCV001114271; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329433 | 32329433 | | | 14:g.32329433C>T | - | | |
NM_025152.3(NUBPL):c.*1048G>A | 80224 | NUBPL | Uncertain significance | rs886050455 | RCV000385936; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329434 | 32329434 | | | 14:g.32329434G>A | ClinGen:CA10645205 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1151G>A | 80224 | NUBPL | Uncertain significance | rs550119169 | RCV000275426; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329537 | 32329537 | | | NC_000014.8:g.32329537G>A | ClinGen:CA10634786 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1260T>C | 80224 | NUBPL | Uncertain significance | rs551289319 | RCV000314112; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329646 | 32329646 | | | NC_000014.8:g.32329646T>C | ClinGen:CA10640097 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1370C>T | 80224 | NUBPL | Uncertain significance | rs1031134034 | RCV001114272; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329756 | 32329756 | | | 14:g.32329756C>T | - | | |
NM_025152.3(NUBPL):c.*1451C>T | 80224 | NUBPL | Likely benign | rs28533800 | RCV000371407; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329837 | 32329837 | | | NC_000014.8:g.32329837C>T | ClinGen:CA10645213 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1554A>G | 80224 | NUBPL | Uncertain significance | rs967796383 | RCV001110248; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329940 | 32329940 | | | 14:g.32329940A>G | - | | |
NM_025152.3(NUBPL):c.*1594T>G | 80224 | NUBPL | Uncertain significance | rs2040700976 | RCV001110249; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329980 | 32329980 | | | 14:g.32329980T>G | - | | |
NM_025152.3(NUBPL):c.*1609G>A | 80224 | NUBPL | Uncertain significance | rs142179743 | RCV000269805; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32329995 | 32329995 | | | NC_000014.8:g.32329995G>A | ClinGen:CA10645224 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1619C>T | 80224 | NUBPL | Uncertain significance | rs886050468 | RCV000327098; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330005 | 32330005 | | | NC_000014.8:g.32330005C>T | ClinGen:CA10640099 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1621C>T | 80224 | NUBPL | Uncertain significance | rs1315512923 | RCV001110250; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330007 | 32330007 | | | 14:g.32330007C>T | - | | |
NM_025152.3(NUBPL):c.*1655A>G | 80224 | NUBPL | Uncertain significance | rs1407466515 | RCV001110251; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330041 | 32330041 | | | 14:g.32330041A>G | - | | |
NM_025152.3(NUBPL):c.*1685A>G | 80224 | NUBPL | Benign | rs1129622 | RCV000384047; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330071 | 32330071 | | | NC_000014.8:g.32330071A>G | ClinGen:CA10645239 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1694G>A | 80224 | NUBPL | Benign | rs1129623 | RCV000272821; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330080 | 32330080 | | | NC_000014.8:g.32330080G>A | ClinGen:CA10634788 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1768G>A | 80224 | NUBPL | Uncertain significance | rs2040704041 | RCV001111000; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330154 | 32330154 | | | 14:g.32330154G>A | - | | |
NM_025152.3(NUBPL):c.*1773A>G | 80224 | NUBPL | Uncertain significance | rs886050469 | RCV000320854; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330159 | 32330159 | | | NC_000014.8:g.32330159A>G | ClinGen:CA10645243 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1776G>A | 80224 | NUBPL | Uncertain significance | rs886050470 | RCV000377899; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330162 | 32330162 | | | NC_000014.8:g.32330162G>A | ClinGen:CA10634790 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1840A>G | 80224 | NUBPL | Uncertain significance | rs886050471 | RCV000285846; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330226 | 32330226 | | | NC_000014.8:g.32330226A>G | ClinGen:CA10640102 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1874A>G | 80224 | NUBPL | Benign | rs10348 | RCV000343121; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330260 | 32330260 | | | NC_000014.8:g.32330260A>G | ClinGen:CA10640103 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1888G>A | 80224 | NUBPL | Benign | rs7148746 | RCV000372210; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330274 | 32330274 | | | NC_000014.8:g.32330274G>A | ClinGen:CA10640104 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_025152.3(NUBPL):c.*1940A>C | 80224 | NUBPL | Uncertain significance | rs149945695 | RCV001111001; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330326 | 32330326 | | | 14:g.32330326A>C | - | | |
NM_025152.3(NUBPL):c.*1963C>A | 80224 | NUBPL | Uncertain significance | rs1164142579 | RCV001112997; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330349 | 32330349 | | | 14:g.32330349C>A | - | | |
NM_025152.3(NUBPL):c.*2036A>C | 80224 | NUBPL | Uncertain significance | rs886050472 | RCV000280137; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 14 | 32330422 | 32330422 | | | NC_000014.8:g.32330422A>C | ClinGen:CA10640105 | C1838979 252010 Mitochondrial complex I deficiency; | |
NM_002496.4(NDUFS8):c.*40A>G | -1 | TCIRG1;NDUFS8 | Conflicting interpretations of pathogenicity | rs61329983 | RCV000346629|RCV000370635|RCV000399461|RCV001109242|RCV001660604; | N | MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|Human Phenotype Ontology:HP:0011002,MONDO:MONDO:0017198,MedGen:C0029454, Orphanet:2781|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C | 11 | 67804100 | 67804100 | | | NC_000011.9:g.67804100A>G | ClinGen:CA6146593 | C0023264 256000 Leigh syndrome; | |
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) | 51300 | TIMMDC1 | Uncertain significance | rs774619141 | RCV001336356; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 119217755 | 119217755 | | | 119217755 | - | | |
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr) | 51300 | TIMMDC1 | Uncertain significance | rs368184254 | RCV001332147|RCV002546536|RCV002546537; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 3 | 119232548 | 119232548 | | | 119232548 | - | | |
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln) | 51300 | TIMMDC1 | Uncertain significance | rs761981569 | RCV001336357|RCV003120562; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202 | 3 | 119236129 | 119236129 | | | 119236129 | - | | |
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu) | 51300 | TIMMDC1 | Uncertain significance | rs779953541 | RCV001336358; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010 | 3 | 119242490 | 119242490 | | | 119242490 | - | | |
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) | 55863 | TMEM126B | Pathogenic | rs752316853 | RCV001335007|RCV001865819|RCV001780257; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250 | 11 | 85345244 | 85345245 | | | 85345243 | - | | |
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) | 55863 | TMEM126B | Uncertain significance | rs181963507 | RCV001335913|RCV001729850|RCV002546751; | N | MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 11 | 85347169 | 85347169 | | | 85347169 | - | | |