1. MSeqDR: NDUFS1 Portal  LSDB  Exome 
External: OMIM  NCBI E ENSG00000023228 GeneCard  GTR  HGNC 
    Protein & RNA:  Uniprot  HPA  GXA  GTEx  DC

Variants: MSeqDR MD-related 64(56) LSDB, HGMD: 28, ClinVar: 192 (P/LP:30; Uncertain:64; With_conflicts:9), Leigh Syndrome related

Pubmed: 5 (literature mined), Leigh + NDUFS1 , Mitochondrial + NDUFS1 (search Title/Abstract)

Gene region 2:206979541..207024327

HGNC Gene: NDUFS1, NADH:ubiquinone oxidoreductase core subunit S1; Alias_symbol: CI-75k; Previous_Symbols: ; ensembl_gene_id; ENSG00000023228; Refseq accession: NM_005006; OMIM ID: 157655; CCDS_ids: CCDS2366|CCDS56162|CCDS56163|CCDS56164|CCDS56165; VEGA_ids: OTTHUMG00000132892; uniprot_ids: P28331

Mitochondrial Diseases from MSeqDR, Mondo, OMIM, CTDBase:
 -  Disease Portal: 252010 ,618226


1. causes condition MONDO:0016815 Leigh syndrome with leukodystrophy, evidence: imported manually asserted information used in automatic assertion inferred through variant
  - Cross-reference: ICD10:G31.8; Orphanet:255241; UMLS:CN202083
2. causes condition MONDO:0009640 mitochondrial complex I deficiency, evidence: imported manually asserted information used in automatic assertion inferred through variant
  - Cross-reference: OMIM:252010; MESH:C537475; DOID:0060536; GARD:0003908; ICD10:G71.3; Orphanet:2609; UMLS:C1838979; UMLS:C2936907

  - Animal models for this disease (not necessarily for this gene):
  -- MGI:2387326 Aifm1 [B6CBACa A/A-Aifm1/J], evidence: author statement supported by traceable reference used in manual assertion PMID:18791645;;
  -- MGI:2387325 Aifm1/Aifm1 [B6CBACa A/A-Aifm1/J], evidence: author statement supported by traceable reference used in manual assertion PMID:18791645;;
  -- WormBase:WBGene00015810 C16A3.5, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00009992 F53F4.10, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00001520 gas-1, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00010721 K09E4.3, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00003061 lpd-5, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00010847 M04B2.4, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00006463 nduf-2.2, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00009051 nduf-6, evidence: evidence used in automatic assertion PMID:19029536;;
  -- MGI:6187936 Ndufa1/Ndufa1 [involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac], evidence: author statement supported by traceable reference used in manual assertion PMID:28506826;;
  -- MGI:5464901 Ndufs4/Ndufs4<+> [involves: 129S6/SvEvTac * C57BL/6NTac], evidence: author statement supported by traceable reference used in manual assertion PMID:19460290;;
  -- MGI:5428952 Ndufs6/Ndufs6 [involves: 129P2/OlaHsd * C57BL/6], evidence: author statement supported by traceable reference used in manual assertion PMID:22474353;;
  -- Coriell:GM24529 NIGMS-GM24529, evidence: ;;
  -- WormBase:WBGene00008225 nuaf-1, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00011123 nuaf-3, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00003831 nuo-1, evidence: evidence used in automatic assertion|mutant phenotype evidence PMID:19029536|WormBase:WBPaper00006301;;
  -- WormBase:WBGene00020417 nuo-2, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00021562 nuo-5, evidence: evidence used in automatic assertion PMID:19029536
All OMIM Disease:
OMIM 252010; MeSH: C1838979, Mitochondrial complex I deficiency, 252010
 

Candidate disease, gene and variant associations from MSeqDR.org:
MSCVHGVS_gAccessionGeneClinical_significanceDiseaseCondition_ID_valueChromosomeStartStopReference_alleleAlternate_alleleVariant_typeVariation_identifiersLocationOfficial_allele_nameCondition_ID_typeMode_of_inheritanceAllele_originClinical_featuresClinVar_alleleid
1._MSCV_00008462:g.206992550C>T000000002310209NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262206992550206992550CTsubstrs397515447NM_001199981.1:exon 15/18;;NM_001199982.1:exon 13/16;;NM_001199983.1:exon 15/18;;NM_001199984.1:exon2:g.206992550C>TMode_of_inheritancegermline65581;
2._MSCV_00008472:g.206992622T>C000000002310210NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262206992622206992622TCsubstrs387907199NM_001199981.1:exon 15/18;;NM_001199982.1:exon 13/16;;NM_001199983.1:exon 15/18;;NM_001199984.1:exon2:g.206992622T>CMode_of_inheritancegermline40569;
3._MSCV_00008482:g.206994851G>A000000002310211NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262206994851206994851GAsubstrs372691318NM_001199981.1:exon 14/18;;NM_001199982.1:exon 12/16;;NM_001199983.1:exon 14/18;;NM_001199984.1:exon2:g.206994851G>AMode_of_inheritancegermline65582;
4._MSCV_00008502:g.207009733T>C000000002310213NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5;not providedMedGen:CN257511, OMIM:618226;MedGen:CN5172022207009733207009733TCsubstrs199422224NM_001199981.1:exon 8/18;;NM_001199982.1:exon 6/16;;NM_001199983.1:exon 8/18;;NM_001199984.1:exon 9/2:g.207009733T>CMode_of_inheritancegermline29270;
5._MSCV_00008512:g.207011643G>A000000002310214NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262207011643207011643GAsubstrs199422225NM_001199981.1:exon 7/18;;NM_001199982.1:exon 5/16;;NM_001199983.1:exon 7/18;;NM_001199984.1:exon 8/2:g.207011643G>AMode_of_inheritancegermline29271;
6._MSCV_00008522:g.207011673G>C000000002310215NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262207011673207011673GCsubstrs199422226NM_001199981.1:exon 7/18;;NM_001199982.1:exon 5/16;;NM_001199983.1:exon 7/18;;NM_001199984.1:exon 8/2:g.207011673G>CMode_of_inheritancegermline29272;
7._MSCV_00008542:g.207011696_207011698del000000002310217NDUFS1PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5MedGen:CN257511, OMIM:6182262207011696207011698ATG-delrs3975153832:g.207011696_207011698delMode_of_inheritancegermline29269;
8._MSCV_00008492:g.207006705G>A000000002310212NDUFS1Likely pathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5;not providedMedGen:CN257511, OMIM:618226;MedGen:CN5172022207006705207006705GAsubstrs149271416NM_001199981.1:exon 11/18;;NM_001199982.1:exon 9/16;;NM_001199983.1:exon 11/18;;NM_001199984.1:exon 2:g.207006705G>AMode_of_inheritancegermline65583;
9._MSCV_00193692:g.207009730A>C000000002317802NDUFS1Likely pathogenicJuvenile myopathy, encephalopathy, lactic acidosis AND strokeMedGen:C0162671, OMIM:540000, Orphanet:ORPHA550, SNOMED CT:399250032207009730207009730AC2:g.207009730A>CMode_of_inheritancegermline188274;
10._MSCV_00193602:g.207003230C>T000000002317794NDUFS1Conflicting interpretations of pathogenicityLeigh syndrome;Mitochondrial complex I deficiency;not provided;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207003230207003230CT2:g.207003230C>TMode_of_inheritancegermline;unknown142183;
11._MSCV_00193622:g.207003310G>C000000002317796NDUFS1Conflicting interpretations of pathogenicityMitochondrial complex I deficiency;not provided;not specifiedMedGen:C2936907, Orphanet:ORPHA2609;MedGen:CN517202;MedGen:CN1693742207003310207003310GC2:g.207003310G>CMode_of_inheritancegermline;unknown142182;
12._MSCV_00193752:g.207012392T>C000000002317804NDUFS1Conflicting interpretations of pathogenicityLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207012392207012392TC2:g.207012392T>CMode_of_inheritancegermline142177;
13._MSCV_00193392:g.206988063del000000002317776NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988063206988063A-2:g.206988063delMode_of_inheritancegermline284147;
14._MSCV_00193412:g.206988176T>C000000002317778NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988176206988176TC2:g.206988176T>CMode_of_inheritancegermline284148;
15._MSCV_00193452:g.206988452A>T000000002317782NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988452206988452AT2:g.206988452A>TMode_of_inheritancegermline286845;
16._MSCV_00193482:g.206988573C>A000000002317785NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988573206988573CA2:g.206988573C>AMode_of_inheritancegermline284912;
17._MSCV_00193492:g.206988653G>A000000002317786NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988653206988653GA2:g.206988653G>AMode_of_inheritancegermline284167;
18._MSCV_00193832:g.207024107G>C000000002317812NDUFS1Likely benignLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092207024107207024107GC2:g.207024107G>CMode_of_inheritancegermline284926;
19._MSCV_00193632:g.207006676T>C000000002317797NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not provided;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207006676207006676TC2:g.207006676T>CMode_of_inheritancegermline;unknown135141;
20._MSCV_00193662:g.207008754G>A000000002317799NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207008754207008754GA2:g.207008754G>AMode_of_inheritancegermline142179;
21._MSCV_00193672:g.207008763C>A000000002317800NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not provided;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207008763207008763CA2:g.207008763C>AMode_of_inheritancegermline;unknown135142;
22._MSCV_00193742:g.207012241G>T000000002317803NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207012241207012241GT2:g.207012241G>TMode_of_inheritancegermline142178;
23._MSCV_00193762:g.207012483A>G000000002317805NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not provided;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207012483207012483AG2:g.207012483A>GMode_of_inheritancegermline;unknown142176;
24._MSCV_00193822:g.207017173G>A000000002317811NDUFS1Benign/Likely benignLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207017173207017173GA2:g.207017173G>AMode_of_inheritancegermline142185;
25._MSCV_00193362:g.206987943T>C000000002317773NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206987943206987943TC2:g.206987943T>CMode_of_inheritancegermline284146;
26._MSCV_00193372:g.206988043T>G000000002317774NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988043206988043TG2:g.206988043T>GMode_of_inheritancegermline286832;
27._MSCV_00193402:g.206988153T>A000000002317777NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988153206988153TA2:g.206988153T>AMode_of_inheritancegermline286835;
28._MSCV_00193422:g.206988268T>C000000002317779NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988268206988268TC2:g.206988268T>CMode_of_inheritancegermline284149;
29._MSCV_00193432:g.206988348A>G000000002317780NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988348206988348AG2:g.206988348A>GMode_of_inheritancegermline284909;
30._MSCV_00193442:g.206988405C>T000000002317781NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988405206988405CT2:g.206988405C>TMode_of_inheritancegermline286843;
31._MSCV_00193462:g.206988471G>A000000002317783NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988471206988471GA2:g.206988471G>AMode_of_inheritancegermline284911;
32._MSCV_00193472:g.206988510C>T000000002317784NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988510206988510CT2:g.206988510C>TMode_of_inheritancegermline287226;
33._MSCV_00193502:g.206988751A>G000000002317787NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988751206988751AG2:g.206988751A>GMode_of_inheritancegermline286846;
34._MSCV_00193512:g.206988758A>G000000002317788NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988758206988758AG2:g.206988758A>GMode_of_inheritancegermline284913;
35._MSCV_00193532:g.206988882G>A000000002317790NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206988882206988882GA2:g.206988882G>AMode_of_inheritancegermline287235;
36._MSCV_00193542:g.206991447T>C000000002317791NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206991447206991447TC2:g.206991447T>CMode_of_inheritancegermline287236;
37._MSCV_00193582:g.206997706C>T000000002317792NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206997706206997706CT2:g.206997706C>TMode_of_inheritancegermline287237;
38._MSCV_00193592:g.206997836del000000002317793NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092206997836206997836A-2:g.206997836delMode_of_inheritancegermline287238;
39._MSCV_00193612:g.207003238T>C000000002317795NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092207003238207003238TC2:g.207003238T>CMode_of_inheritancegermline287239;
40._MSCV_00193652:g.207007423T>C000000002317798NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiency;not providedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207007423207007423TC2:g.207007423T>CMode_of_inheritancegermline286850;
41._MSCV_00193682:g.207008821G>C000000002317801NDUFS1Uncertain significanceMitochondrial complex I deficiencyMedGen:C2936907, Orphanet:ORPHA26092207008821207008821GC2:g.207008821G>CMode_of_inheritancegermline404755;
42._MSCV_00193772:g.207012501G>T000000002317806NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092207012501207012501GT2:g.207012501G>TMode_of_inheritancegermline287244;
43._MSCV_00193782:g.207012533C>T000000002317807NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092207012533207012533CT2:g.207012533C>TMode_of_inheritancegermline287247;
44._MSCV_00193802:g.207013835del000000002317809NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA26092207013835207013835A-2:g.207013835delMode_of_inheritancegermline287257;
45._MSCV_00193812:g.207014658_207014659del000000002317810NDUFS1Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiency;not providedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;2207014658207014659AA-2:g.207014658_207014659delMode_of_inheritancegermline;unknown284922;
46._MSCV_00193382:g.206988062_206988063insA000000002317775NDUFS1332206988062206988063Reference_alleleAlternate_allele2:g.206988062_206988063insAMode_of_inheritance-1;
47._MSCV_00193522:g.206988815_206988816insT000000002317789NDUFS102206988815206988816Reference_alleleAlternate_allele2:g.206988815_206988816insTMode_of_inheritance-1;
48._MSCV_00090542:g.206988964C>T000000002323802NDUFS102206988964206988964Reference_alleleAlternate_allele2:g.206988964C>TMode_of_inheritance-1;
49._MSCV_00090552:g.206994967C>T000000002323797NDUFS102206994967206994967Reference_alleleAlternate_allele2:g.206994967C>TMode_of_inheritance-1;
50._MSCV_00090562:g.207006678T>C000000002323798NDUFS102207006678207006678Reference_alleleAlternate_allele2:g.207006678T>CMode_of_inheritance-1;
51._MSCV_00090572:g.207009643T>C000000002323799NDUFS102207009643207009643Reference_alleleAlternate_allele2:g.207009643T>CMode_of_inheritance-1;
52._MSCV_00090582:g.207011626C>T000000002323800NDUFS102207011626207011626Reference_alleleAlternate_allele2:g.207011626C>TMode_of_inheritance-1;
53._MSCV_00090592:g.207011681A>G000000002323801NDUFS102207011681207011681Reference_alleleAlternate_allele2:g.207011681A>GMode_of_inheritance-1;
54._MSCV_00008532:g.207011685G>A000000002310216NDUFS102207011685207011685Reference_alleleAlternate_allelesubstNANM_001199981.1:exon 7/18;;NM_001199982.1:exon 5/16;;NM_001199983.1:exon 7/18;;NM_001199984.1:exon 8/2:g.207011685G>AMode_of_inheritance-1;
55._MSCV_00193792:g.207013834_207013835insA000000002317808NDUFS102207013834207013835Reference_alleleAlternate_allele2:g.207013834_207013835insAMode_of_inheritance-1;
56._MSCV_00090602:g.207017232G>A000000002323796NDUFS102207017232207017232Reference_alleleAlternate_allele2:g.207017232G>AMode_of_inheritance-1;



Candidate disease, gene and variant associations from ClinVar:

PUBMEDAlleleIDVariation_NameGeneIDGeneSymbolClinicalSignificanceDisease_ClinVarPhenotypeIDsPhenotypeListRCVaccessiondbSNPChromosomeStartStopHGVS_gHGVS_cHGVS_pOtherIDsTestedInGTRLastEvaluatedReviewStatusNumberSubmitters
1. Pubmed: 25741868
Pubtator: 25741868
142183NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; 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:618226not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000127145|RCV000298259|RCV000399898|RCV000676270|RCV001000338; rs223089222070032302070032302:g.207003230C>TCTClinGen:CA292489NMar 25, 2019criteria provided, conflicting interpretations5
2. Pubmed: 28492532
Pubtator: 28492532
142177NM_005006.7(NDUFS1):c.421-7A>G4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000127139|RCV000296747|RCV000388644|RCV000888456; rs19294940622070123922070123922:g.207012392T>CTCClinGen:CA292482NDec 31, 2019criteria provided, conflicting interpretations4
3. Pubmed:
Pubtator:
284167NM_005006.7(NDUFS1):c.*256C>T4719NDUFS1Likely benignC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000333555|RCV000353381; rs1019883022069886532069886532:g.206988653G>AGAClinGen:CA10612152NApr 27, 2017criteria provided, single submitter1
4. Pubmed:
Pubtator:
287226NM_005006.7(NDUFS1):c.*399G>A4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000310899|RCV000402213; rs7700072822069885102069885102:g.206988510C>TCTClinGen:CA10613952NJan 13, 2018criteria provided, single submitter1
5. Pubmed:
Pubtator:
286846NM_005006.7(NDUFS1):c.*158T>C4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000260695|RCV000318219; rs377098922069887512069887512:g.206988751A>GAGClinGen:CA10613697NJan 13, 2018criteria provided, single submitter1
6. Pubmed:
Pubtator:
142179NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000127141|RCV000270808|RCV000381710; rs223089022070087542070087542:g.207008754G>AGAClinGen:CA292484NApr 27, 2017criteria provided, multiple submitters, no conflicts2
7. Pubmed:
Pubtator:
142178NM_005006.7(NDUFS1):c.551+14C>A4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000127140|RCV000293249|RCV000350546; rs1020664422070122412070122412:g.207012241G>TGTClinGen:CA292483NApr 27, 2017criteria provided, multiple submitters, no conflicts2
8. Pubmed: 25741868
Pubtator: 25741868
142176NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000127138|RCV000334929|RCV000395218|RCV000676275; rs1154867022070124832070124832:g.207012483A>GAGClinGen:CA292480NJan 13, 2018criteria provided, multiple submitters, no conflicts4
9. Pubmed:
Pubtator:
142185NM_005006.7(NDUFS1):c.123C>T (p.Val41=)4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000127147|RCV000275731|RCV000386489; rs223088822070171732070171732:g.207017173G>AGAClinGen:CA292492NApr 27, 2017criteria provided, multiple submitters, no conflicts2
10. Pubmed:
Pubtator:
286845NM_005006.7(NDUFS1):c.*457T>A4719NDUFS1BenignC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000342686|RCV000394556; rs414772822069884522069884522:g.206988452A>TATClinGen:CA10613696NJan 12, 2018criteria provided, single submitter1
11. Pubmed:
Pubtator:
284912NM_005006.7(NDUFS1):c.*336G>T4719NDUFS1BenignC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000275804|RCV000368047; rs104412022069885732069885732:g.206988573C>ACAClinGen:CA10612578NJan 12, 2018criteria provided, single submitter1
12. Pubmed: 25741868
Pubtator: 25741868
135141NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)4719NDUFS1BenignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000117709|RCV000301574|RCV000358690|RCV000676271; rs180131822070066762070066762:g.207006676T>CTCClinGen:CA153859NJan 13, 2018criteria provided, multiple submitters, no conflicts4
13. Pubmed: 25741868
Pubtator: 25741868
135142NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)4719NDUFS1BenignC0023264 256000 Leigh syndrome; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000117710|RCV000328157|RCV000385000|RCV000676273; rs112756622070087632070087632:g.207008763C>ACAClinGen:CA153862NJan 13, 2018criteria provided, multiple submitters, no conflicts4
14. Pubmed:
Pubtator:
286843NM_005006.7(NDUFS1):c.*504G>A4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000286009|RCV000394554; rs54864120722069884052069884052:g.206988405C>TCTClinGen:CA10613695NJan 12, 2018criteria provided, single submitter1
15. Pubmed:
Pubtator:
284911NM_005006.7(NDUFS1):c.*438C>T4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000307565|RCV000364628; rs56198071822069884712069884712:g.206988471G>AGAClinGen:CA10612577NJan 13, 2018criteria provided, single submitter1
16. Pubmed:
Pubtator:
284913NM_005006.7(NDUFS1):c.*151T>C4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000283276|RCV000375427; rs53317915422069887582069887582:g.206988758A>GAGClinGen:CA10612579NJan 12, 2018criteria provided, single submitter1
17. Pubmed:
Pubtator:
284169NM_005006.7(NDUFS1):c.*93dup4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000321842|RCV000378852; rs20044647722069888152069888162:g.206988815_206988816insTAATClinGen:CA10612153NJun 14, 2016criteria provided, single submitter1
18. Pubmed:
Pubtator:
287235NM_005006.7(NDUFS1):c.*27C>T4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000288060|RCV000345317; rs36974651422069888822069888822:g.206988882G>AGAClinGen:CA2070238NJan 13, 2018criteria provided, single submitter1
19. Pubmed:
Pubtator:
287236NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000291718|RCV000397460; rs14271696422069914472069914472:g.206991447T>CTCClinGen:CA2070307NJan 13, 2018criteria provided, single submitter1
20. Pubmed:
Pubtator:
287237NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000348996|RCV000397471; rs13788931622069977062069977062:g.206997706C>TCTClinGen:CA2070426NJan 12, 2018criteria provided, single submitter1
21. Pubmed:
Pubtator:
287238NM_005006.7(NDUFS1):c.1393-7del4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000313581|RCV000352020; rs76029228922069978362069978362:g.206997836_206997836delTATClinGen:CA2070449NJun 14, 2016criteria provided, single submitter1
22. Pubmed:
Pubtator:
287239NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000262962|RCV000355346; rs75809591322070032382070032382:g.207003238T>CTCClinGen:CA2070480NJan 13, 2018criteria provided, single submitter1
23. Pubmed:
Pubtator:
286850NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000266394|RCV000323881|RCV000519440; rs76543691522070074232070074232:g.207007423T>CTCClinGen:CA2070563NJan 12, 2018criteria provided, multiple submitters, no conflicts2
24. Pubmed:
Pubtator:
287244NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000299872|RCV000338484; rs75713927522070125012070125012:g.207012501G>TGTClinGen:CA2070790NJan 12, 2018criteria provided, single submitter1
25. Pubmed:
Pubtator:
287247NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000303664|RCV000395226; rs88605550222070125332070125332:g.207012533C>TCTClinGen:CA2070794NJan 13, 2018criteria provided, single submitter1
26. Pubmed: 21458341, 20382551, 19167255
Pubtator: 21458341 20382551 19167255
421356NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)4719NDUFS1Pathogenic/Likely pathogenicCN517202 not provided; MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000493658|RCV000779296; rs37041148822070116812070116812:g.207011681A>GAGClinGen:CA2070700NSep 11, 2017criteria provided, multiple submitters, no conflicts2
27. Pubmed: 20382551
Pubtator: 20382551
65581NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000043634; rs39751544722069925502069925502:g.206992550C>TCTClinGen:CA143869,OMIM:157655.0006NJul 01, 2010no assertion criteria provided1
28. Pubmed: 21203893
Pubtator: 21203893
40569NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000024604; rs38790719922069926222069926222:g.206992622T>CTCClinGen:CA129896,OMIM:157655.0005NFeb 01, 2011no assertion criteria provided1
29. Pubmed: 20382551
Pubtator: 20382551
65582NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000043635; rs37269131822069948512069948512:g.206994851G>AGAClinGen:CA143871,OMIM:157655.0007NJul 01, 2010no assertion criteria provided1
30. Pubmed:
Pubtator:
210743NM_005006.7(NDUFS1):c.1393-2A>C4719NDUFS1PathogenicMedGen:CN517202not providedRCV000197167; rs37000937322069978312069978312:g.206997831T>GTGClinGen:CA321608NJun 12, 2014criteria provided, single submitter1
31. Pubmed: 25741868, 11349233
Pubtator: 25741868 11349233
29270NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000015299|RCV000198207; rs19942222422070097332070097332:g.207009733T>CTCClinGen:CA123814,UniProtKB:P28331#VAR_019533,OMIM:157655.0002NMay 19, 2017criteria provided, multiple submitters, no conflicts3
32. Pubmed: 11349233
Pubtator: 11349233
29271NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000015300; rs19942222522070116432070116432:g.207011643G>AGAClinGen:CA123815,UniProtKB:P28331#VAR_019532,OMIM:157655.0003NJun 01, 2001no assertion criteria provided1
33. Pubmed:
Pubtator:
210746NM_005006.7(NDUFS1):c.699_700del (p.Lys234fs)4719NDUFS1PathogenicMedGen:CN517202not providedRCV000195890; rs155350665522070116642070116652:g.207011664_207011665delTTATClinGen:CA320269NSep 17, 2013criteria provided, single submitter1
34. Pubmed: 15824269
Pubtator: 15824269
29272NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000015301; rs19942222622070116732070116732:g.207011673G>CGCClinGen:CA123816,OMIM:157655.0004NApr 01, 2005no assertion criteria provided1
35. Pubmed: 11349233
Pubtator: 11349233
29269NM_005006.7(NDUFS1):c.666_668del (p.Ile223del)4719NDUFS1PathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000015298; rs39751538322070116962070116982:g.207011696_207011698delAATGAClinGen:CA123812,OMIM:157655.0001NJun 01, 2001no assertion criteria provided1
36. Pubmed: 25741868
Pubtator: 25741868
614599NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)4719NDUFS1PathogenicMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Mitochondrial complex I deficiency, nuclear type 1RCV000768438; rs75097139022070172322070172322:g.207017232G>AGA-N-no assertion criteria provided1
37. Pubmed:
Pubtator:
788745NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)4719NDUFS1Likely pathogenicMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000985117; rs132188858522069889722069889722:g.206988972C>TCT-NSep 26, 2019no assertion criteria provided1
38. Pubmed:
Pubtator:
210733NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000199572; rs76712206922069889862069889862:g.206988986C>TCTClinGen:CA324118NAug 13, 2015criteria provided, single submitter1
39. Pubmed:
Pubtator:
806273NM_005006.7(NDUFS1):c.1946_1947TC[2] (p.Ser650_Pro651insTer)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV001008053; rs157594463822069915022069915032:g.206991502_206991503delGGAG-NDec 07, 2018criteria provided, single submitter1
40. Pubmed:
Pubtator:
210735NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000195727; rs86322409922069926052069926052:g.206992605C>GCGClinGen:CA320092NFeb 15, 2013criteria provided, single submitter1
41. Pubmed:
Pubtator:
210736NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV000198567; rs86322410322069926782069926782:g.206992678C>TCTClinGen:CA323085NSep 09, 2014criteria provided, single submitter1
42. Pubmed:
Pubtator:
210739NM_005006.7(NDUFS1):c.1696A>T (p.Ile566Phe)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV000197278; rs86322409722069948242069948242:g.206994824T>ATAClinGen:CA321724NAug 27, 2012criteria provided, single submitter1
43. Pubmed:
Pubtator:
438188NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000512917; rs155350317522069949232069949242:g.206994923_206994924insCGCCCGClinGen:CA658653760NApr 30, 2017criteria provided, single submitter1
44. Pubmed:
Pubtator:
438189NM_005006.7(NDUFS1):c.1589_1596del (p.Tyr530fs)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000513393; rs155350317722069949242069949312:g.206994924_206994931delCAGGCTTATCClinGen:CA658653761NApr 01, 2017criteria provided, single submitter1
45. Pubmed:
Pubtator:
790154NM_005006.7(NDUFS1):c.1393-7_1393-3del4719NDUFS1Likely pathogenicMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986981; rs155904752122069978322069978362:g.206997832_206997836delTATTTAT-NMay 28, 2019criteria provided, single submitter1
46. Pubmed:
Pubtator:
790155NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)4719NDUFS1Likely pathogenicMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986982; rs77611473122070066712070066712:g.207006671C>TCT-NMay 28, 2019criteria provided, single submitter1
47. Pubmed:
Pubtator:
425460NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000497455|RCV001249843; rs15127910122070067042070067042:g.207006704C>TCTClinGen:CA2070521NJun 05, 2017criteria provided, multiple submitters, no conflicts2
48. Pubmed: 20382551
Pubtator: 20382551
65583NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)4719NDUFS1Likely pathogenicC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000043636|RCV000492968; rs14927141622070067052070067052:g.207006705G>AGAClinGen:CA143873,OMIM:157655.0008NJul 01, 2016criteria provided, single submitter2
49. Pubmed: 25741868
Pubtator: 25741868
614598NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser)4719NDUFS1Likely pathogenicMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Mitochondrial complex I deficiency, nuclear type 1RCV000768439; rs148503227222070096432070096432:g.207009643T>CTC-N-no assertion criteria provided1
50. Pubmed: 26036949, 22499341
Pubtator: 26036949 22499341
188274NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)4719NDUFS1Likely pathogenicC0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550Juvenile myopathy, encephalopathy, lactic acidosis AND strokeRCV000170569; rs78620566622070097302070097302:g.207009730A>CACClinGen:CA274773NAug 12, 2011criteria provided, single submitter1
51. Pubmed:
Pubtator:
421357NM_005006.7(NDUFS1):c.661A>T (p.Asn221Tyr)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000493034; rs113169203222070117032070117032:g.207011703T>ATAClinGen:CA350059523NJul 01, 2016criteria provided, single submitter1
52. Pubmed:
Pubtator:
210747NM_005006.7(NDUFS1):c.589_591ACA[1] (p.Thr198del)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV000200139; rs86322410022070117702070117722:g.207011770_207011772delCTGTCClinGen:CA324697NSep 09, 2014criteria provided, single submitter1
53. Pubmed:
Pubtator:
790158NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)4719NDUFS1Likely pathogenicMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986985; rs74724970222070122882070122882:g.207012288A>CAC-NMay 28, 2019criteria provided, single submitter1
54. Pubmed:
Pubtator:
210751NM_005006.7(NDUFS1):c.185G>A (p.Arg62Gln)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000197730; rs20103448122070146182070146182:g.207014618C>TCTClinGen:CA322194NMay 10, 2012criteria provided, single submitter1
55. Pubmed:
Pubtator:
883452NM_005006.7(NDUFS1):c.*426T>G4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001138693|RCV001138694; -122069884832069884832:g.206988483A>CAC-NJan 12, 2018criteria provided, conflicting interpretations1
56. Pubmed:
Pubtator:
883453NM_005006.7(NDUFS1):c.*341A>G4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141270|RCV001141271; -122069885682069885682:g.206988568T>CTC-NJan 13, 2018criteria provided, conflicting interpretations1
57. Pubmed: 25741868
Pubtator: 25741868
142182NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)4719NDUFS1Conflicting interpretations of pathogenicityC1838979 252010 Mitochondrial complex I deficiency; MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010not specified|not provided|Mitochondrial complex I deficiency|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000195297|RCV000513877|RCV000605317|RCV001143217|RCV001143218; rs7804282622070033102070033102:g.207003310G>CGCClinGen:CA232547NMay 11, 2018criteria provided, conflicting interpretations9
58. Pubmed:
Pubtator:
366901NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000429059|RCV001143219|RCV001143220; rs11202609722070074812070074812:g.207007481G>AGAClinGen:CA2070575NJan 13, 2018criteria provided, conflicting interpretations2
59. Pubmed:
Pubtator:
366321NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000419653|RCV001138898|RCV001138899; rs14854417722070117532070117532:g.207011753A>GAGClinGen:CA2070717NJan 13, 2018criteria provided, conflicting interpretations2
60. Pubmed:
Pubtator:
883471NM_005006.7(NDUFS1):c.-64T>C4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138991|RCV001138992; -122070241242070241242:g.207024124A>GAG-NApr 27, 2017criteria provided, conflicting interpretations1
61. Pubmed:
Pubtator:
883474NM_005006.7(NDUFS1):c.-76G>A4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141606|RCV001141607; -122070241362070241362:g.207024136C>TCT-NJan 13, 2018criteria provided, conflicting interpretations1
62. Pubmed:
Pubtator:
284147NM_005006.7(NDUFS1):c.*846del4719NDUFS1Likely benignMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000329565|RCV000367850; rs5825383822069880632069880632:g.206988063_206988063delTATClinGen:CA10612141NJun 14, 2016criteria provided, single submitter1
63. Pubmed:
Pubtator:
499484NM_005006.7(NDUFS1):c.1708+19A>G4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000612335; rs117127090922069947932069947932:g.206994793T>CTCClinGen:CA658796148NJun 01, 2017criteria provided, single submitter1
64. Pubmed:
Pubtator:
210738NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000198251; rs14768584922069948212069948212:g.206994821T>CTCClinGen:CA322758NDec 22, 2014criteria provided, single submitter1
65. Pubmed:
Pubtator:
366888NM_005006.7(NDUFS1):c.1668A>G (p.Thr556=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000442706; rs105752189522069948522069948522:g.206994852T>CTCClinGen:CA16604352NMar 21, 2016criteria provided, single submitter1
66. Pubmed:
Pubtator:
658039NM_005006.7(NDUFS1):c.1554-181_1554-157del4719NDUFS1Likely benignMedGen:CN517202not providedRCV000832489; rs56756593922069951232069951472:g.206995123_206995147delAGGCTGGAGCGCAGTGGCGTGATCTCA-NJun 14, 2018criteria provided, single submitter1
67. Pubmed: 25741868
Pubtator: 25741868
250510NM_005006.7(NDUFS1):c.1392+19T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000249702; rs77014574622070031902070031902:g.207003190A>GAGClinGen:CA2070470N-criteria provided, single submitter1
68. Pubmed:
Pubtator:
366072NM_005006.7(NDUFS1):c.1262+17A>G4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000439296; rs14469582622070066482070066482:g.207006648T>CTCClinGen:CA2070514NMay 11, 2017criteria provided, single submitter1
69. Pubmed:
Pubtator:
658155NM_005006.7(NDUFS1):c.1134-15A>G4719NDUFS1Likely benignMedGen:CN517202not providedRCV000835101; rs20107864122070068082070068082:g.207006808T>CTC-NMay 21, 2018criteria provided, single submitter1
70. Pubmed:
Pubtator:
658178NM_005006.7(NDUFS1):c.1133+194C>T4719NDUFS1Likely benignMedGen:CN517202not providedRCV000832488; rs11301077122070072162070072162:g.207007216G>AGA-NJun 14, 2018criteria provided, single submitter1
71. Pubmed:
Pubtator:
499923NM_005006.7(NDUFS1):c.1014G>A (p.Val338=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000604356; rs76308034822070075292070075292:g.207007529C>TCTClinGen:CA2070581NDec 11, 2017criteria provided, single submitter1
72. Pubmed:
Pubtator:
499485NM_005006.7(NDUFS1):c.987+18dup4719NDUFS1Likely benignMedGen:CN169374not specifiedRCV000606385; rs121241187122070087232070087242:g.207008723_207008724insATTAClinGen:CA539058052NAug 25, 2017criteria provided, single submitter1
73. Pubmed:
Pubtator:
366313NM_005006.7(NDUFS1):c.933A>G (p.Lys311=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000423269; rs105752304122070087962070087962:g.207008796T>CTCClinGen:CA16604100NAug 09, 2016criteria provided, single submitter1
74. Pubmed:
Pubtator:
366317NM_005006.7(NDUFS1):c.873-9G>A4719NDUFS1Likely benignCN517202 not provided; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000425955|RCV000676274; rs18089990822070088652070088652:g.207008865C>TCTClinGen:CA2070629NOct 13, 2016criteria provided, single submitter2
75. Pubmed:
Pubtator:
499486NM_005006.7(NDUFS1):c.738-20A>T4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000610469; rs20012809722070097702070097702:g.207009770T>ATAClinGen:CA2070671NFeb 03, 2017criteria provided, single submitter1
76. Pubmed:
Pubtator:
499881NM_005006.7(NDUFS1):c.636G>A (p.Lys212=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000614581; rs155350670222070117282070117282:g.207011728C>TCTClinGen:CA430955000NJan 23, 2017criteria provided, single submitter1
77. Pubmed:
Pubtator:
499924NM_005006.7(NDUFS1):c.551+10T>G4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000616790; rs155350682422070122452070122452:g.207012245A>CACClinGen:CA658796149NJan 31, 2017criteria provided, single submitter1
78. Pubmed:
Pubtator:
366075NM_005006.7(NDUFS1):c.348G>A (p.Val116=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000431988; rs14586830222070125492070125492:g.207012549C>TCTClinGen:CA2070798NMar 16, 2017criteria provided, single submitter1
79. Pubmed: 28492532
Pubtator: 28492532
777173NM_005006.7(NDUFS1):c.262-10G>T4719NDUFS1Likely benignMedGen:CN517202not providedRCV000953702; rs122632292322070138302070138302:g.207013830C>ACA-NJun 14, 2017criteria provided, single submitter1
80. Pubmed:
Pubtator:
210750NM_005006.7(NDUFS1):c.253G>A (p.Ala85Thr)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000199979; rs77406998322070145502070145502:g.207014550C>TCTClinGen:CA324527NApr 10, 2013criteria provided, single submitter1
81. Pubmed: 28492532
Pubtator: 28492532
777235NM_005006.7(NDUFS1):c.154-33_154-19dup4719NDUFS1Likely benignMedGen:CN517202not providedRCV000953446; rs56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAA-NJun 14, 2017criteria provided, single submitter1
82. Pubmed:
Pubtator:
366909NM_005006.7(NDUFS1):c.154-15T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000426487; rs7937088222070146642070146642:g.207014664A>GAGClinGen:CA2070870NNov 02, 2017criteria provided, single submitter1
83. Pubmed:
Pubtator:
366322NM_005006.7(NDUFS1):c.154-19T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000425814; rs75772456622070146682070146682:g.207014668A>GAGClinGen:CA2070874NFeb 03, 2016criteria provided, single submitter1
84. Pubmed:
Pubtator:
658045NM_005006.7(NDUFS1):c.154-291G>A4719NDUFS1Likely benignMedGen:CN517202not providedRCV000832487; rs11593221922070149402070149402:g.207014940C>TCT-NJun 14, 2018criteria provided, single submitter1
85. Pubmed:
Pubtator:
366327NM_005006.7(NDUFS1):c.153+9A>G4719NDUFS1Likely benignCN517202 not provided; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000444343|RCV000676280; rs20067516122070171342070171342:g.207017134T>CTCClinGen:CA2070894NOct 13, 2016criteria provided, single submitter2
86. Pubmed:
Pubtator:
499487NM_005006.7(NDUFS1):c.-5+18T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000603683; rs138682441422070240472070240472:g.207024047A>GAGClinGen:CA539059524NOct 19, 2017criteria provided, single submitter1
87. Pubmed:
Pubtator:
883450NM_005006.7(NDUFS1):c.*574T>G4719NDUFS1Benign/Likely benignMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138267|RCV001138268; -122069883352069883352:g.206988335A>CAC-NJan 13, 2018criteria provided, single submitter1
88. Pubmed:
Pubtator:
883455NM_005006.7(NDUFS1):c.*53T>G4719NDUFS1Benign/Likely benignMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001143109|RCV001143110; -122069888562069888562:g.206988856A>CAC-NJan 13, 2018criteria provided, single submitter1
89. Pubmed:
Pubtator:
887243NM_005006.7(NDUFS1):c.1393-7T>A4719NDUFS1Benign/Likely benignMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141370|RCV001141371; -122069978362069978362:g.206997836A>TAT-NJan 13, 2018criteria provided, single submitter1
90. Pubmed:
Pubtator:
284148NM_005006.7(NDUFS1):c.*733A>G4719NDUFS1BenignMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000278615|RCV000389432; rs670770722069881762069881762:g.206988176T>CTCClinGen:CA10612142NJan 12, 2018criteria provided, single submitter1
91. Pubmed:
Pubtator:
658032NM_005006.7(NDUFS1):c.2093-170G>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843218; rs204585822069891702069891702:g.206989170C>ACA-NJun 14, 2018criteria provided, single submitter1
92. Pubmed:
Pubtator:
658036NM_005006.7(NDUFS1):c.2092+279T>C4719NDUFS1BenignMedGen:CN517202not providedRCV000843198; rs414772722069909842069909842:g.206990984A>GAG-NJun 14, 2018criteria provided, single submitter1
93. Pubmed:
Pubtator:
142184NM_005006.7(NDUFS1):c.2019+18A>T4719NDUFS1BenignCN169374 not specified; MedGen:CN169374not specifiedRCV000127146; rs5579363022069914162069914162:g.206991416T>ATAClinGen:CA292491NMar 14, 2014criteria provided, single submitter1
94. Pubmed:
Pubtator:
658163NM_005006.7(NDUFS1):c.1709-291A>G4719NDUFS1BenignMedGen:CN517202not providedRCV000828591; rs1247232922069929872069929872:g.206992987T>CTC-NJun 14, 2018criteria provided, single submitter1
95. Pubmed:
Pubtator:
658164NM_005006.7(NDUFS1):c.1554-173G>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843197; rs377098722069951392069951392:g.206995139C>ACA-NJun 14, 2018criteria provided, single submitter1
96. Pubmed:
Pubtator:
658167NM_005006.7(NDUFS1):c.1554-274C>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843194; rs414772322069952402069952402:g.206995240G>AGA-NJun 14, 2018criteria provided, single submitter1
97. Pubmed:
Pubtator:
658147NM_005006.7(NDUFS1):c.1553+250C>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843193; rs414772122069974192069974192:g.206997419G>AGA-NJun 14, 2018criteria provided, single submitter1
98. Pubmed:
Pubtator:
658169NM_005006.7(NDUFS1):c.1393-221T>C4719NDUFS1BenignMedGen:CN517202not providedRCV000843190; rs414772022069980502069980502:g.206998050A>GAG-NJun 14, 2018criteria provided, single submitter1
99. Pubmed:
Pubtator:
658171NM_005006.7(NDUFS1):c.1263-333A>G4719NDUFS1BenignMedGen:CN517202not providedRCV000828590; rs15112327322070036712070036712:g.207003671T>CTC-NJun 14, 2018criteria provided, single submitter1
100. Pubmed:
Pubtator:
658041NM_005006.7(NDUFS1):c.1262+199C>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843189; rs643532722070064662070064662:g.207006466G>AGA-NJun 14, 2018criteria provided, single submitter1
101. Pubmed:
Pubtator:
658173NM_005006.7(NDUFS1):c.1133+283G>A4719NDUFS1BenignMedGen:CN517202not providedRCV000842898; rs414771722070071272070071272:g.207007127C>TCT-NJun 14, 2018criteria provided, single submitter1
102. Pubmed:
Pubtator:
658174NM_005006.7(NDUFS1):c.1133+233C>T4719NDUFS1BenignMedGen:CN517202not providedRCV000828588; rs414771622070071772070071772:g.207007177G>AGA-NJun 14, 2018criteria provided, single submitter1
103. Pubmed:
Pubtator:
142181NM_005006.7(NDUFS1):c.1133+20G>A4719NDUFS1BenignCN169374 not specified; MedGen:CN169374not specifiedRCV000127143; rs643532822070073902070073902:g.207007390C>TCTClinGen:CA292488NApr 04, 2012criteria provided, single submitter1
104. Pubmed:
Pubtator:
142180NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)4719NDUFS1BenignCN517202 not provided; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000127142|RCV000676272; rs7294482722070075142070075142:g.207007514A>CACClinGen:CA292486NJan 16, 2013criteria provided, single submitter2
105. Pubmed:
Pubtator:
405544NM_005006.7(NDUFS1):c.339-20_339-19del4719NDUFS1BenignMedGen:CN169374not specifiedRCV000480716; rs11166710022070125772070125782:g.207012577_207012578delCATCClinGen:CA2070802NApr 09, 2015criteria provided, single submitter1
106. Pubmed:
Pubtator:
658042NM_005006.7(NDUFS1):c.261+201_261+202dup4719NDUFS1BenignMedGen:CN517202not providedRCV000842895; rs321713922070143392070143402:g.207014339_207014340insACGGAC-NJun 14, 2018criteria provided, single submitter1
107. Pubmed: 28492532
Pubtator: 28492532
777231NM_005006.7(NDUFS1):c.154-33_154-15dup4719NDUFS1BenignMedGen:CN517202not providedRCV000950385; rs56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAA-NJun 08, 2017criteria provided, single submitter1
108. Pubmed: 28492532
Pubtator: 28492532
777232NM_005006.7(NDUFS1):c.154-33_154-28dup4719NDUFS1BenignMedGen:CN517202not providedRCV000959835; rs56896565922070146572070146582:g.207014657_207014658insAAAAAATTAAAAAA-NJun 14, 2017criteria provided, single submitter1
109. Pubmed: 28492532
Pubtator: 28492532
777174NM_005006.7(NDUFS1):c.154-33_154-17dup4719NDUFS1BenignMedGen:CN517202not providedRCV000951062; rs56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAA-NJun 26, 2018criteria provided, single submitter1
110. Pubmed: 28492532
Pubtator: 28492532
777177NM_005006.7(NDUFS1):c.154-33_154-16dup4719NDUFS1BenignMedGen:CN517202not providedRCV000949250; rs56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAA-NMay 24, 2017criteria provided, single submitter1
111. Pubmed:
Pubtator:
549891NM_005006.7(NDUFS1):c.154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000676279; rs56896565922070146582070146582:g.207014658_207014658delTAT-NAug 22, 2017no assertion criteria provided1
112. Pubmed:
Pubtator:
265866NM_005006.7(NDUFS1):c.154-11_154-9del4719NDUFS1BenignCN517202 not provided; MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not specified|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000306609|RCV000676277|RCV000999960; rs56896565922070146582070146602:g.207014658_207014660delTAAATClinGen:CA2070863NMar 13, 2019criteria provided, multiple submitters, no conflicts3
113. Pubmed: 28492532
Pubtator: 28492532
549890NM_005006.7(NDUFS1):c.154-12_154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000676278; rs56896565922070146582070146612:g.207014658_207014661delTAAAAT-NJul 27, 2017criteria provided, single submitter2
114. Pubmed: 28492532
Pubtator: 28492532
777223NM_005006.7(NDUFS1):c.154-14_154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000958897; rs56896565922070146582070146632:g.207014658_207014663delTAAAAAAT-NAug 04, 2017criteria provided, single submitter1
115. Pubmed: 28492532
Pubtator: 28492532
777227NM_005006.7(NDUFS1):c.154-15_154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000946664; rs56896565922070146582070146642:g.207014658_207014664delTAAAAAAAT-NMay 08, 2017criteria provided, single submitter1
116. Pubmed:
Pubtator:
657989NM_005006.7(NDUFS1):c.154-126TAGA[8]4719NDUFS1BenignMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not provided|Leigh syndromeRCV000835483|RCV000986986; rs321714022070147472070147482:g.207014747_207014748insTCTATTTCTA-NMay 28, 2019criteria provided, multiple submitters, no conflicts2
117. Pubmed:
Pubtator:
658156NM_005006.7(NDUFS1):c.154-126TAGA[9]4719NDUFS1BenignMedGen:CN517202|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not provided|Leigh syndromeRCV000835247|RCV000986987; rs321714022070147472070147482:g.207014747_207014748insTCTATCTATTTCTATCTA-NMay 28, 2019criteria provided, multiple submitters, no conflicts2
118. Pubmed:
Pubtator:
657993NM_005006.7(NDUFS1):c.154-177_154-176insAG4719NDUFS1BenignMedGen:CN517202not providedRCV000832908; rs20123302922070148252070148262:g.207014825_207014826insCTCCCT-NJun 14, 2018criteria provided, single submitter1
119. Pubmed:
Pubtator:
284926NM_005006.7(NDUFS1):c.-47C>G4719NDUFS1BenignMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000333207|RCV000371529; rs414770722070241072070241072:g.207024107G>CGCClinGen:CA10612589NJan 12, 2018criteria provided, single submitter1
120. Pubmed:
Pubtator:
883447NM_005006.7(NDUFS1):c.*1077A>T4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141165|RCV001141166; -122069878322069878322:g.206987832T>ATA-NJan 13, 2018criteria provided, single submitter1
121. Pubmed:
Pubtator:
284146NM_005006.7(NDUFS1):c.*966A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000301641|RCV000358744; rs75577698922069879432069879432:g.206987943T>CTCClinGen:CA10612140NJan 12, 2018criteria provided, single submitter1
122. Pubmed:
Pubtator:
883448NM_005006.7(NDUFS1):c.*938C>T4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141167|RCV001141168; -122069879712069879712:g.206987971G>AGA-NJan 13, 2018criteria provided, single submitter1
123. Pubmed:
Pubtator:
286832NM_005006.7(NDUFS1):c.*866A>C4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000307294|RCV000398472; rs74979081122069880432069880432:g.206988043T>GTGClinGen:CA10613689NJan 12, 2018criteria provided, single submitter1
124. Pubmed:
Pubtator:
883449NM_005006.7(NDUFS1):c.*864G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001143008|RCV001143009; -122069880452069880452:g.206988045C>TCT-NJan 12, 2018criteria provided, single submitter1
125. Pubmed:
Pubtator:
287223NM_005006.7(NDUFS1):c.*846dup4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000271891|RCV000364348; rs5825383822069880622069880632:g.206988062_206988063insATTAClinGen:CA10613950NJun 14, 2016criteria provided, single submitter1
126. Pubmed:
Pubtator:
286835NM_005006.7(NDUFS1):c.*756A>T4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000275533|RCV000332991; rs75546027422069881532069881532:g.206988153T>ATAClinGen:CA10613692NJan 13, 2018criteria provided, single submitter1
127. Pubmed:
Pubtator:
284149NM_005006.7(NDUFS1):c.*641A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000317468|RCV000374378; rs88605550122069882682069882682:g.206988268T>CTCClinGen:CA10612143NJan 12, 2018criteria provided, single submitter1
128. Pubmed:
Pubtator:
284909NM_005006.7(NDUFS1):c.*561T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000282324|RCV000339709; rs14653830922069883482069883482:g.206988348A>GAGClinGen:CA10612576NJan 12, 2018criteria provided, single submitter1
129. Pubmed:
Pubtator:
883451NM_005006.7(NDUFS1):c.*459A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138691|RCV001138692; -122069884502069884502:g.206988450T>CTC-NJan 12, 2018criteria provided, single submitter1
130. Pubmed:
Pubtator:
883454NM_005006.7(NDUFS1):c.*130A>C4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001143107|RCV001143108; -122069887792069887792:g.206988779T>GTG-NJan 12, 2018criteria provided, single submitter1
131. Pubmed: 25741868, 25326635
Pubtator: 25741868 25326635
552061NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Mitochondrial complex I deficiencyRCV000680046; rs76567784022069889642069889642:g.206988964C>TCT-NSep 01, 2017criteria provided, single submitter1
132. Pubmed:
Pubtator:
883456NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001136551|RCV001136552; -122069914842069914842:g.206991484C>TCT-NJan 13, 2018criteria provided, single submitter1
133. Pubmed:
Pubtator:
883457NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001136553|RCV001136554; -122069926572069926572:g.206992657A>GAG-NJan 12, 2018criteria provided, single submitter1
134. Pubmed:
Pubtator:
883458NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138790|RCV001138791; -122069949082069949082:g.206994908G>AGA-NJan 13, 2018criteria provided, single submitter1
135. Pubmed:
Pubtator:
210741NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not provided|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000195446|RCV001138792|RCV001138793; rs20180603822069949202069949202:g.206994920C>TCTClinGen:CA319780NJan 12, 2018criteria provided, multiple submitters, no conflicts2
136. Pubmed:
Pubtator:
619933NM_005006.7(NDUFS1):c.1554-1G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000778153; rs105643345222069949672069949672:g.206994967C>TCT-NApr 05, 2019criteria provided, single submitter1
137. Pubmed:
Pubtator:
883459NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138794|RCV001138795; -122069976972069976972:g.206997697C>ACA-NJan 13, 2018criteria provided, single submitter1
138. Pubmed:
Pubtator:
210742NM_005006.7(NDUFS1):c.1423G>T (p.Val475Phe)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202not providedRCV000199002; rs13912042822069977992069977992:g.206997799C>ACAClinGen:CA323546NApr 05, 2013criteria provided, single submitter1
139. Pubmed:
Pubtator:
679334NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000852380; rs77710292722069978292069978292:g.206997829C>TCT-NAug 30, 2019no assertion criteria provided1
140. Pubmed:
Pubtator:
883460NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141372|RCV001141373; -122070033102070033102:g.207003310G>AGA-NJan 13, 2018criteria provided, single submitter1
141. Pubmed: 25741868, 25326635
Pubtator: 25741868 25326635
552062NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Mitochondrial complex I deficiencyRCV000680045; rs112756722070066782070066782:g.207006678T>CTC-NSep 01, 2017criteria provided, single submitter1
142. Pubmed:
Pubtator:
790156NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986983; rs75115078722070066922070066922:g.207006692G>AGA-NMay 28, 2019criteria provided, single submitter1
143. Pubmed:
Pubtator:
273417NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202not providedRCV000396917; rs13969069422070074822070074822:g.207007482A>TATClinGen:CA2070576NJul 19, 2016criteria provided, single submitter1
144. Pubmed:
Pubtator:
883461NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001136653|RCV001136654; -122070087432070087432:g.207008743A>GAG-NJan 13, 2018criteria provided, single submitter1
145. Pubmed:
Pubtator:
404755NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Mitochondrial complex I deficiencyRCV000477869; rs7566642622070088212070088212:g.207008821G>CGCClinGen:CA2070622NJun 23, 2016no assertion criteria provided1
146. Pubmed:
Pubtator:
883462NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001136655|RCV001136656; -122070097202070097202:g.207009720C>TCT-NJan 12, 2018criteria provided, single submitter1
147. Pubmed: 25741868
Pubtator: 25741868
438997NM_005006.7(NDUFS1):c.738-20A>G4719NDUFS1Uncertain significanceCN517202 not provided; MedGen:CN517202not providedRCV000514667; rs20012809722070097702070097702:g.207009770T>CTCClinGen:CA2070670NMay 12, 2017criteria provided, single submitter1
148. Pubmed:
Pubtator:
620738NM_005006.7(NDUFS1):c.737+1G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000779295; rs93577667622070116262070116262:g.207011626C>TCT-NApr 28, 2017criteria provided, single submitter1
149. Pubmed:
Pubtator:
790157NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986984; rs157598445022070116752070116752:g.207011675G>TGT-NMay 28, 2019criteria provided, single submitter1
150. Pubmed:
Pubtator:
584518NM_005006.7(NDUFS1):c.560G>C (p.Ser187Thr)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV000728489; rs75547803322070118042070118042:g.207011804C>GCG-NJul 28, 2017criteria provided, single submitter1
151. Pubmed:
Pubtator:
905017NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001172487; -122070122552070122552:g.207012255C>GCG-N-no assertion criteria provided1
152. Pubmed:
Pubtator:
210748NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000593838|RCV001249403; rs14012618522070122772070122772:g.207012277T>CTCClinGen:CA321662NApr 14, 2017criteria provided, single submitter2
153. Pubmed:
Pubtator:
210749NM_005006.7(NDUFS1):c.421-6C>G4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202not providedRCV000200797; rs86322409522070123912070123912:g.207012391G>CGCClinGen:CA325380NAug 20, 2013criteria provided, single submitter1
154. Pubmed:
Pubtator:
883463NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141489|RCV001141490; -122070125362070125362:g.207012536A>GAG-NJan 12, 2018criteria provided, single submitter1
155. Pubmed:
Pubtator:
883464NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141491|RCV001141492; -122070137452070137452:g.207013745T>CTC-NJan 12, 2018criteria provided, single submitter1
156. Pubmed:
Pubtator:
287274NM_005006.7(NDUFS1):c.262-25dup4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000268364|RCV000360707; rs3418431722070138342070138352:g.207013834_207013835insAGGAClinGen:CA2070832NJun 14, 2016criteria provided, single submitter1
157. Pubmed:
Pubtator:
287257NM_005006.7(NDUFS1):c.262-15del4719NDUFS1Uncertain significanceMONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000307662|RCV000364669; rs3418431722070138352070138352:g.207013835_207013835delGAGClinGen:CA2070831NJun 14, 2016criteria provided, single submitter1
158. Pubmed:
Pubtator:
887244NM_005006.7(NDUFS1):c.261+6T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001143327|RCV001143328; -122070145362070145362:g.207014536A>GAG-NJan 12, 2018criteria provided, single submitter1
159. Pubmed:
Pubtator:
284922NM_005006.7(NDUFS1):c.154-10_154-9del4719NDUFS1Uncertain significanceMONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Mitochondrial complex I deficiency|Leigh syndrome|not providedRCV000272442|RCV000329832|RCV000676276; rs56896565922070146582070146592:g.207014658_207014659delTAATClinGen:CA2070864NJun 14, 2016criteria provided, single submitter2
160. Pubmed:
Pubtator:
883465NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001143329|RCV001143330; -122070172262070172262:g.207017226T>CTC-NJan 12, 2018criteria provided, single submitter1
161. Pubmed:
Pubtator:
918730NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001197062; -122070172312070172312:g.207017231C>TCT-NDec 24, 2018criteria provided, single submitter1
162. Pubmed:
Pubtator:
883466NM_005006.7(NDUFS1):c.63T>C (p.Val21=)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001143331|RCV001143332; -122070172332070172332:g.207017233A>GAG-NJan 13, 2018criteria provided, single submitter1
163. Pubmed:
Pubtator:
883467NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001136756|RCV001136757; -122070183712070183712:g.207018371A>TAT-NApr 27, 2017criteria provided, single submitter1
164. Pubmed:
Pubtator:
788746NM_005006.7(NDUFS1):c.-5+236T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000985220; rs18450536422070238292070238292:g.207023829A>GAG-NSep 26, 2019no assertion criteria provided1
165. Pubmed:
Pubtator:
883468NM_005006.7(NDUFS1):c.-31A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001136758|RCV001136759; -122070240912070240912:g.207024091T>CTC-NApr 27, 2017criteria provided, single submitter1
166. Pubmed:
Pubtator:
883469NM_005006.7(NDUFS1):c.-38T>G4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001136760|RCV001136761; -122070240982070240982:g.207024098A>CAC-NJan 13, 2018criteria provided, single submitter1
167. Pubmed:
Pubtator:
883470NM_005006.7(NDUFS1):c.-61G>C4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001138989|RCV001138990; -122070241212070241212:g.207024121C>GCG-NJan 13, 2018criteria provided, single submitter1
168. Pubmed:
Pubtator:
883472NM_005006.7(NDUFS1):c.-73C>A4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001138993|RCV001138994; -122070241332070241332:g.207024133G>TGT-NJan 12, 2018criteria provided, single submitter1
169. Pubmed:
Pubtator:
883473NM_005006.7(NDUFS1):c.-75A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001138995|RCV001138996; -122070241352070241352:g.207024135T>CTC-NJan 12, 2018criteria provided, single submitter1
170. Pubmed:
Pubtator:
883475NM_005006.7(NDUFS1):c.-101G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141608|RCV001141609; -122070241612070241612:g.207024161C>TCT-NJan 13, 2018criteria provided, single submitter1
171. Pubmed:
Pubtator:
883476NC_000002.12:g.206159485A>C4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001141610|RCV001141611; -122070242092070242092:g.207024209A>CAC-NJan 12, 2018criteria provided, single submitter1



Candidate disease, gene and variant associations from pubmed:

pmidGeneGeneIDMeshIDDiseasesDisease_mention_and_paperComponentsMentionsResourceClinVarHGMDrsidhgvsghgvschgvspgene
1._25419155 PubtatorNDUFS14719C563530Paper: The genetics of Leigh syndrome and its implications for clinical practice and risk management.
Mentions: familial adult Leigh syndrome;; Paper: The genetics of Leigh syndrome and its implications for clinical practice and risk management.
Mentions: Leigh's disease|SURF1-deficient Leigh syndrome|Leigh et leucodystrophie par deficit|Leigh's syndrome|Leigh syndrome|Leigh Syndrome|Leigh disease|late-onset Leigh syndrome|I-deficient Leigh syndrome|necrotizing encephalomyelopathy|Leigh overlap syndrome|L
g.13513G>AG13513AtmVar0 ;
2._24941115 PubtatorNDUFS14719D007888Paper: Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.
Mentions: Leigh Syndrome|Leigh syndrome
m.3243A>Gm.3243A>GtmVar0 m.3243A>G;
3._19542079 PubtatorNDUFS14719D007888Paper: Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Mentions: Leigh disease|Leigh's syndrome|Leigh syndrome
g.8993T>GT8993GtmVar0 ;
4._30090137 PubtatorNDUFS14719D007888Paper: Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
Mentions: Leigh Syndrome|LS|necrotizing encephalomyelopathy|Leigh syndrome|Leigh-like syndrome
;
5._15576045 PubtatorNDUFS14719D007888Paper: Clinical and molecular findings in children with complex I deficiency. Bugiani M(1), Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I,
Mentions: Leigh syndrome
;



Other disease, gene and variant associations from pubmed: