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 134(126) LSDB, HGMD: , ClinVar: 424 (P/LP:37; Uncertain:172; With_conflicts:27), Leigh Syndrome related

Pubmed: 35 (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. is causal germline mutation in MONDO:0016815 Leigh syndrome with leukodystrophy, evidence: imported manually asserted information used in automatic assertion direct;; 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:
Pubtator:
287237NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226||MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Mitochondrial complex 1 deficiency, nuclear type 5|See cases|not providedRCV000348996|RCV000397471|RCV001728094|RCV002252098|RCV001861145; 13788931622069977062069977062:g.206997706C>TClinGen:CA2070426NMar 27, 2023criteria provided, conflicting interpretations6
2. Pubmed:
Pubtator:
287238NM_005006.7(NDUFS1):c.1393-7del4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Mitochondrial complex I deficiency|Leigh syndrome|not providedRCV000313581|RCV000352020|RCV001519149; 76029228922069978362069978362:g.206997836_206997836delClinGen:CA2070449NJun 15, 2022criteria provided, conflicting interpretations2
3. 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:C3661900|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; 223089222070032302070032302:g.207003230C>TClinGen:CA292489NOct 31, 2022criteria provided, conflicting interpretations6
4. 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:C3661900not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000127139|RCV000296747|RCV000388644|RCV000888456; 19294940622070123922070123922:g.207012392T>CClinGen:CA292482NOct 01, 2023criteria provided, conflicting interpretations5
5. Pubmed:
Pubtator:
287274NM_005006.7(NDUFS1):c.262-15dup4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202Leigh syndrome|Mitochondrial complex I deficiency|not providedRCV000268364|RCV000360707|RCV002057638; 341843172207013834207013835NC_000002.11:g.207013845dupClinGen:CA2070832NOct 20, 2022criteria provided, conflicting interpretations2
6. Pubmed:
Pubtator:
287257NM_005006.7(NDUFS1):c.262-15del4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Mitochondrial complex I deficiency|Leigh syndrome|not providedRCV000307662|RCV000364669|RCV001522963; 341843172207013835207013835NC_000002.11:g.207013845delClinGen:CA2070831NNov 01, 2022criteria provided, conflicting interpretations3
7. Pubmed:
Pubtator:
284922NM_005006.7(NDUFS1):c.154-10_154-9del4719NDUFS1Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Mitochondrial complex I deficiency|Leigh syndrome|not providedRCV000272442|RCV000329832|RCV000676276; 5689656592207014658207014659NC_000002.11:g.207014681_207014682delClinGen:CA2070864NAug 09, 2019criteria provided, conflicting interpretations3
8. Pubmed:
Pubtator:
284147NM_005006.7(NDUFS1):c.*846del4719NDUFS1Likely benignC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000329565|RCV000367850; 582538382206988063206988063NC_000002.11:g.206988074delClinGen:CA10612141NJun 14, 2016criteria provided, single submitter1
9. 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:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000310899|RCV000402213|RCV001653618; 7700072822069885102069885102:g.206988510C>TClinGen:CA10613952NMay 20, 2021criteria provided, multiple submitters, no conflicts2
10. Pubmed:
Pubtator:
284167NM_005006.7(NDUFS1):c.*256C>T4719NDUFS1Benign/Likely benignC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000333555|RCV000353381|RCV001711947; 1019883022069886532069886532:g.206988653G>AClinGen:CA10612152NJul 09, 2018criteria provided, multiple submitters, no conflicts2
11. 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; 377098922069887512069887512:g.206988751A>GClinGen:CA10613697NJan 13, 2018criteria provided, single submitter1
12. 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:252010|MedGen:C3661900not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000127141|RCV000270808|RCV000381710|RCV002055703; 223089022070087542070087542:g.207008754G>AClinGen:CA292484NNov 01, 2022criteria provided, multiple submitters, no conflicts3
13. 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:252010|MedGen:C3661900not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000127140|RCV000293249|RCV000350546|RCV001523312; 1020664422070122412070122412:g.207012241G>TClinGen:CA292483NNov 01, 2022criteria provided, multiple submitters, no conflicts3
14. 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:C3661900not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000127138|RCV000334929|RCV000395218|RCV000676275; 1154867022070124832070124832:g.207012483A>GClinGen:CA292480NNov 01, 2022criteria provided, multiple submitters, no conflicts5
15. 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:506|MedGen:C3661900not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000127147|RCV000275731|RCV000386489|RCV002055704; 223088822070171732070171732:g.207017173G>AClinGen:CA292492NNov 01, 2022criteria provided, multiple submitters, no conflicts3
16. Pubmed:
Pubtator:
284148NM_005006.7(NDUFS1):c.*733A>G4719NDUFS1BenignC0023264 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 1RCV000278615|RCV000389432; 67077072206988176206988176NC_000002.11:g.206988176T>CClinGen:CA10612142NJan 12, 2018criteria provided, single submitter1
17. 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:252010|MedGen:CN517202Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000342686|RCV000394556|RCV001683335; 414772822069884522069884522:g.206988452A>TClinGen:CA10613696NMay 13, 2021criteria provided, multiple submitters, no conflicts2
18. 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:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000275804|RCV000368047|RCV001636929; 104412022069885732069885732:g.206988573C>AClinGen:CA10612578NMay 13, 2021criteria provided, multiple submitters, no conflicts2
19. 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:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000117709|RCV000301574|RCV000358690|RCV000676271|RCV001778737; 180131822070066762070066762:g.207006676T>CClinGen:CA153859NNov 01, 2022criteria provided, multiple submitters, no conflicts7
20. 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:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000117710|RCV000328157|RCV000385000|RCV000676273|RCV001778738; 112756622070087632070087632:g.207008763C>AClinGen:CA153862NNov 01, 2022criteria provided, multiple submitters, no conflicts7
21. Pubmed:
Pubtator:
284926NM_005006.7(NDUFS1):c.-47C>G4719NDUFS1BenignC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000333207|RCV000371529|RCV001672569; 41477072207024107207024107NC_000002.11:g.207024107G>CClinGen:CA10612589NJan 12, 2018criteria provided, multiple submitters, no conflicts2
22. Pubmed:
Pubtator:
284146NM_005006.7(NDUFS1):c.*966A>G4719NDUFS1Uncertain 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 1RCV000301641|RCV000358744; 7557769892206987943206987943NC_000002.11:g.206987943T>CClinGen:CA10612140NJan 12, 2018criteria provided, single submitter1
23. Pubmed:
Pubtator:
286832NM_005006.7(NDUFS1):c.*866A>C4719NDUFS1Uncertain 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 1RCV000307294|RCV000398472; 7497908112206988043206988043NC_000002.11:g.206988043T>GClinGen:CA10613689NJan 12, 2018criteria provided, single submitter1
24. Pubmed:
Pubtator:
287223NM_005006.7(NDUFS1):c.*846dup4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000271891|RCV000364348; 582538382206988062206988063NC_000002.11:g.206988074dupClinGen:CA10613950NJun 14, 2016criteria provided, single submitter1
25. Pubmed:
Pubtator:
286835NM_005006.7(NDUFS1):c.*756A>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 1RCV000275533|RCV000332991; 7554602742206988153206988153NC_000002.11:g.206988153T>AClinGen:CA10613692NJan 13, 2018criteria provided, single submitter1
26. Pubmed:
Pubtator:
284149NM_005006.7(NDUFS1):c.*641A>G4719NDUFS1Uncertain 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 1RCV000317468|RCV000374378; 8860555012206988268206988268NC_000002.11:g.206988268T>CClinGen:CA10612143NJan 12, 2018criteria provided, single submitter1
27. Pubmed:
Pubtator:
284909NM_005006.7(NDUFS1):c.*561T>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 syndromeRCV000282324|RCV000339709; 1465383092206988348206988348NC_000002.11:g.206988348A>GClinGen:CA10612576NJan 12, 2018criteria provided, single submitter1
28. 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; 54864120722069884052069884052:g.206988405C>TClinGen:CA10613695NJan 12, 2018criteria provided, single submitter1
29. 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; 56198071822069884712069884712:g.206988471G>AClinGen:CA10612577NJan 13, 2018criteria provided, single submitter1
30. 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; 53317915422069887582069887582:g.206988758A>GClinGen:CA10612579NJan 12, 2018criteria provided, single submitter1
31. Pubmed:
Pubtator:
284169NM_005006.7(NDUFS1):c.*93dup4719NDUFS1Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000321842|RCV000378852; 20044647722069888152069888162:g.206988815_206988816insTClinGen:CA10612153NJun 14, 2016criteria provided, single submitter1
32. 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:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 5RCV000288060|RCV000345317|RCV002480186; 36974651422069888822069888822:g.206988882G>AClinGen:CA2070238NJan 14, 2022criteria provided, multiple submitters, no conflicts2
33. 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:506|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000291718|RCV000397460|RCV001841256|RCV001824308; 14271696422069914472069914472:g.206991447T>CClinGen:CA2070307NOct 17, 2022criteria provided, multiple submitters, no conflicts5
34. 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; 75809591322070032382070032382:g.207003238T>CClinGen:CA2070480NJan 13, 2018criteria provided, single submitter1
35. 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; 76543691522070074232070074232:g.207007423T>CClinGen:CA2070563NJan 06, 2020criteria provided, multiple submitters, no conflicts2
36. 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; 75713927522070125012070125012:g.207012501G>TClinGen:CA2070790NJan 12, 2018criteria provided, single submitter1
37. 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; 88605550222070125332070125332:g.207012533C>TClinGen:CA2070794NJan 13, 2018criteria provided, single submitter1
38. Pubmed:
Pubtator:
210743NM_005006.7(NDUFS1):c.1393-2A>C4719NDUFS1Pathogenic/Likely pathogenicCN517202 not provided; MedGen:C3661900|not provided|See casesRCV000197167|RCV002252051; 3700093732206997831206997831NC_000002.11:g.206997831T>GClinGen:CA321608NAug 31, 2022criteria provided, multiple submitters, no conflicts3
39. Pubmed: 21458341, 20382551, 19167255
Pubtator: 21458341 20382551 19167255
421356NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)4719NDUFS1Pathogenic/Likely pathogenicCN517202 not provided; MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000493658|RCV000779296; 37041148822070116812070116812:g.207011681A>GClinGen:CA2070700NJan 12, 2023criteria provided, multiple submitters, no conflicts4
40. Pubmed:
Pubtator:
2300480NM_005006.7(NDUFS1):c.503del (p.Leu168fs)4719NDUFS1Pathogenic/Likely pathogenicMeSH:D030342,MedGen:C0950123|Inborn genetic diseases|NDUFS1-related conditionRCV002900882|RCV003404172; -12207012303207012303NC_000002.11:g.207012304del-NFeb 24, 2023criteria provided, multiple submitters, no conflicts2
41. 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; 39751544722069925502069925502:g.206992550C>TClinGen:CA143869,OMIM:157655.0006NJul 01, 2010no assertion criteria provided1
42. 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:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000043635|RCV001558587; 37269131822069948512069948512:g.206994851G>AClinGen:CA143871,OMIM:157655.0007NJun 22, 2023criteria provided, multiple submitters, no conflicts4
43. Pubmed:
Pubtator:
2111008NM_005006.7(NDUFS1):c.1255C>T (p.Arg419Ter)4719NDUFS1PathogenicMedGen:CN517202not providedRCV002909609; -12207006672207006672NC_000002.11:g.207006672G>A-NAug 13, 2022criteria provided, single submitter1
44. Pubmed:
Pubtator:
1366589NM_005006.7(NDUFS1):c.1070del (p.Leu357fs)4719NDUFS1PathogenicMedGen:C3661900not providedRCV001960547; 21059681692207007473207007473207007472-NNov 16, 2021criteria provided, single submitter1
45. 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; 19942222422070097332070097332:g.207009733T>CClinGen:CA123814,UniProtKB:P28331#VAR_019533,OMIM:157655.0002NMay 19, 2017criteria provided, multiple submitters, no conflicts3
46. Pubmed:
Pubtator:
210746NM_005006.7(NDUFS1):c.699_700del (p.Lys234fs)4719NDUFS1PathogenicMedGen:C3661900not providedRCV000195890; 15535066552207011664207011665NC_000002.11:g.207011664_207011665delClinGen:CA320269NApr 01, 2022criteria provided, multiple submitters, no conflicts2
47. Pubmed:
Pubtator:
1438690NM_005006.7(NDUFS1):c.673dup (p.Ile225fs)4719NDUFS1PathogenicMedGen:C3661900not providedRCV002007462; 21059738072207011690207011691207011690-NMar 31, 2021criteria provided, single submitter1
48. 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; 39751538322070116962070116982:g.207011696_207011698delClinGen:CA123812,OMIM:157655.0001NJun 01, 2001no assertion criteria provided1
49. Pubmed:
Pubtator:
1995692NM_005006.7(NDUFS1):c.454C>T (p.Arg152Ter)4719NDUFS1PathogenicMedGen:CN517202not providedRCV002640165; -12207012352207012352NC_000002.11:g.207012352G>A-NAug 19, 2022criteria provided, single submitter1
50. Pubmed: 25741868
Pubtator: 25741868
614599NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)4719NDUFS1PathogenicMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 5RCV000768438|RCV002493399; 7509713902207017232207017232NC_000002.11:g.207017232G>A-NFeb 27, 2022criteria provided, single submitter2
51. Pubmed:
Pubtator:
1962877NM_005006.7(NDUFS1):c.29_42del (p.Ala9_Leu10insTer)4719NDUFS1PathogenicMedGen:CN517202not providedRCV002572365; -12207018361207018374NC_000002.11:g.207018363_207018376del-NSep 14, 2022criteria provided, single submitter1
52. 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; 132188858522069889722069889722:g.206988972C>T-NSep 26, 2019no assertion criteria provided1
53. Pubmed:
Pubtator:
210733NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000199572; 76712206922069889862069889862:g.206988986C>TClinGen:CA324118NAug 13, 2015criteria provided, single submitter1
54. Pubmed:
Pubtator:
2671462NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)4719NDUFS1Likely pathogenicMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003236686; -12206988991206988991-NJun 22, 2023criteria provided, single submitter1
55. Pubmed:
Pubtator:
806273NM_005006.7(NDUFS1):c.1950_1951del (p.Ser650_Pro651insTer)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV001008053; 157594463822069915022069915032:g.206991502_206991503del-NDec 07, 2018criteria provided, single submitter1
56. Pubmed:
Pubtator:
1315051NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter)4719NDUFS1Likely pathogenicMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001782505; 21059453632206992595206992595206992595-NSep 03, 2021criteria provided, single submitter1
57. Pubmed:
Pubtator:
210735NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000195727; 86322409922069926052069926052:g.206992605C>GClinGen:CA320092NFeb 15, 2013criteria provided, single submitter1
58. Pubmed:
Pubtator:
2798175NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)4719NDUFS1Likely pathogenic-NDUFS1-related conditionRCV003402201; -12206992630206992631-NApr 20, 2023criteria provided, single submitter1
59. Pubmed:
Pubtator:
210736NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000198567; 8632241032206992678206992678NC_000002.11:g.206992678C>TClinGen:CA323085NSep 09, 2014criteria provided, single submitter1
60. Pubmed:
Pubtator:
210739NM_005006.7(NDUFS1):c.1696A>T (p.Ile566Phe)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000197278; 8632240972206994824206994824NC_000002.11:g.206994824T>AClinGen:CA321724NAug 27, 2012criteria provided, single submitter1
61. Pubmed:
Pubtator:
438188NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000512917; 155350317522069949232069949242:g.206994923_206994924insCGClinGen:CA658653760NApr 30, 2017criteria provided, single submitter1
62. Pubmed:
Pubtator:
790154NM_005006.7(NDUFS1):c.1393-7_1393-3del4719NDUFS1Likely pathogenicMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986981; 155904752122069978322069978362:g.206997832_206997836del-NMay 28, 2019criteria provided, single submitter1
63. Pubmed:
Pubtator:
861127NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met)4719NDUFS1Likely pathogenicMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001261539; 2003974162207003316207003316NC_000002.11:g.207003316C>T-NJul 05, 2019criteria provided, single submitter1
64. Pubmed:
Pubtator:
425460NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000497455|RCV001249843; 15127910122070067042070067042:g.207006704C>TClinGen:CA2070521NFeb 20, 2019criteria provided, multiple submitters, no conflicts2
65. Pubmed:
Pubtator:
1861039NM_005006.7(NDUFS1):c.988-2A>C4719NDUFS1Likely pathogenicMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV002468752; -12207007557207007557NC_000002.11:g.207007557T>G-NFeb 18, 2021criteria provided, single submitter1
66. 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; 14850322722207009643207009643NC_000002.11:g.207009643T>C-N-no assertion criteria provided1
67. 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; 78620566622070097302070097302:g.207009730A>CClinGen:CA274773NAug 12, 2011criteria provided, single submitter1
68. Pubmed:
Pubtator:
421357NM_005006.7(NDUFS1):c.661A>T (p.Asn221Tyr)4719NDUFS1Likely pathogenicCN517202 not provided; MedGen:CN517202not providedRCV000493034; 113169203222070117032070117032:g.207011703T>AClinGen:CA350059523NJul 01, 2016criteria provided, single submitter1
69. Pubmed:
Pubtator:
2404155NM_005006.7(NDUFS1):c.631_633del (p.Glu211del)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV003129181; -12207011731207011733NC_000002.11:g.207011731_207011733del-NFeb 24, 2023criteria provided, single submitter1
70. Pubmed:
Pubtator:
210747NM_005006.7(NDUFS1):c.589ACA[1] (p.Thr198del)4719NDUFS1Likely pathogenicMedGen:CN517202not providedRCV000200139; 8632241002207011770207011772NC_000002.11:g.207011771GTT[1]ClinGen:CA324697NSep 09, 2014criteria provided, single submitter1
71. Pubmed:
Pubtator:
790158NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)4719NDUFS1Likely pathogenicMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986985; 74724970222070122882070122882:g.207012288A>C-NMay 28, 2019criteria provided, single submitter1
72. Pubmed:
Pubtator:
1339893NM_005006.7(NDUFS1):c.338+1G>A4719NDUFS1Likely pathogenicMedGen:C3661900not providedRCV001999700; 21059768832207013743207013743207013743-NDec 02, 2021criteria provided, single submitter1
73. Pubmed:
Pubtator:
1936353NM_005006.7(NDUFS1):c.228G>T (p.Arg76Ser)4719NDUFS1Likely pathogenicMedGen:C3661900not providedRCV002512017; -12207014575207014575NC_000002.11:g.207014575C>A-NDec 01, 2022criteria provided, single submitter1
74. Pubmed:
Pubtator:
1183092NM_005006.7(NDUFS1):c.62-2A>G4719NDUFS1Likely pathogenicMedGen:C3661900not providedRCV001556121; 7669084022207017236207017236207017236-NMay 21, 2019criteria provided, single submitter1
75. 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:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001138693|RCV001138694|RCV001856776; 11440216922069884832069884832:g.206988483A>C-NAug 30, 2021criteria provided, conflicting interpretations2
76. 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:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV001141270|RCV001141271|RCV001786443; 15021440922069885682069885682:g.206988568T>C-NMay 29, 2021criteria provided, conflicting interpretations2
77. Pubmed:
Pubtator:
883456NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Inborn genetic diseasesRCV001136552|RCV001136551|RCV002558295; 76927663222069914842069914842:g.206991484C>T-NSep 13, 2022criteria provided, conflicting interpretations2
78. Pubmed: 21203893
Pubtator: 21203893
40569NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)4719NDUFS1Conflicting interpretations of pathogenicityC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000024604|RCV001582499; 38790719922069926222069926222:g.206992622T>CClinGen:CA129896,OMIM:157655.0005NJun 06, 2023criteria provided, conflicting interpretations3
79. Pubmed:
Pubtator:
210738NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val)4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MedGen:C3661900not specified|not providedRCV000198251|RCV002515412; 14768584922069948212069948212:g.206994821T>CClinGen:CA322758NAug 16, 2022criteria provided, conflicting interpretations2
80. Pubmed:
Pubtator:
210741NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MeSH:D030342,MedGen:C0950123not provided|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|Inborn genetic diseasesRCV000195446|RCV001138792|RCV001138793|RCV002515413; 20180603822069949202069949202:g.206994920C>TClinGen:CA319780NMar 20, 2023criteria provided, conflicting interpretations5
81. 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:C3661900|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|not provided|Mitochondrial complex I deficiency|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 5|Leigh syndromeRCV000195297|RCV000513877|RCV000605317|RCV001143218|RCV001282631|RCV001143217; 7804282622070033102070033102:g.207003310G>CClinGen:CA232547NAug 01, 2023criteria provided, conflicting interpretations11
82. Pubmed:
Pubtator:
790155NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Leigh syndrome|not providedRCV000986982|RCV001858657; 77611473122070066712070066712:g.207006671C>T-NDec 02, 2021criteria provided, conflicting interpretations2
83. Pubmed: 20382551
Pubtator: 20382551
65583NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)4719NDUFS1Conflicting interpretations of pathogenicityC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C3661900|Mitochondrial complex 1 deficiency, nuclear type 5|not provided|NDUFS1-related conditionRCV000043636|RCV000492968|RCV003430654; 14927141622070067052070067052:g.207006705G>AClinGen:CA143873,OMIM:157655.0008NNov 20, 2022criteria provided, conflicting interpretations4
84. 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:506|MedGen:C3661900not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000429059|RCV001143219|RCV001143220|RCV001512828; 11202609722070074812070074812:g.207007481G>AClinGen:CA2070575NOct 24, 2022criteria provided, conflicting interpretations3
85. Pubmed:
Pubtator:
883462NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV001136655|RCV001136656|RCV002556902; 14872614222070097202070097202:g.207009720C>T-NJul 23, 2022criteria provided, conflicting interpretations2
86. Pubmed:
Pubtator:
499486NM_005006.7(NDUFS1):c.738-20A>T4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000610469|RCV002531160; 20012809722070097702070097702:g.207009770T>AClinGen:CA2070671NJul 04, 2022criteria provided, conflicting interpretations2
87. Pubmed: 25741868
Pubtator: 25741868
438997NM_005006.7(NDUFS1):c.738-20A>G4719NDUFS1Conflicting interpretations of pathogenicityCN517202 not provided; MedGen:C3661900not providedRCV000514667; 20012809722070097702070097702:g.207009770T>CClinGen:CA2070670NOct 25, 2022criteria provided, conflicting interpretations2
88. 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:252010|MedGen:C3661900not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000419653|RCV001138898|RCV001138899|RCV002061445; 14854417722070117532070117532:g.207011753A>GClinGen:CA2070717NSep 09, 2022criteria provided, conflicting interpretations3
89. Pubmed:
Pubtator:
1318517NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)4719NDUFS1Conflicting interpretations of pathogenicityMedGen:C3661900not providedRCV001794840; 7596566842207012304207012304207012304-NAug 10, 2022criteria provided, conflicting interpretations2
90. Pubmed:
Pubtator:
210750NM_005006.7(NDUFS1):c.253G>A (p.Ala85Thr)4719NDUFS1Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MeSH:D030342,MedGen:C0950123not specified|Inborn genetic diseasesRCV000199979|RCV003362722; 77406998322070145502070145502:g.207014550C>TClinGen:CA324527NJul 19, 2023criteria provided, conflicting interpretations2
91. Pubmed:
Pubtator:
883466NM_005006.7(NDUFS1):c.63T>C (p.Val21=)4719NDUFS1Conflicting interpretations of pathogenicityMONDO: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 providedRCV001143331|RCV001143332|RCV002070724; 75663260122070172332070172332:g.207017233A>G-NNov 18, 2021criteria provided, conflicting interpretations2
92. 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; 14502313022070241242070241242:g.207024124A>G-NApr 27, 2017criteria provided, conflicting interpretations1
93. Pubmed:
Pubtator:
883473NM_005006.7(NDUFS1):c.-75A>G4719NDUFS1Conflicting interpretations of pathogenicityMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001138995|RCV001138996|RCV003438669; 13881842122070241352070241352:g.207024135T>C-NJan 01, 2023criteria provided, conflicting interpretations2
94. 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:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001141606|RCV001141607|RCV001786444; 11613744222070241362070241362:g.207024136C>T-NMay 26, 2021criteria provided, conflicting interpretations2
95. Pubmed:
Pubtator:
2089316NM_005006.7(NDUFS1):c.2093-4T>A4719NDUFS1Likely benignMedGen:CN517202not providedRCV002894328; -12206989004206989004NC_000002.11:g.206989004A>T-NSep 12, 2022criteria provided, single submitter1
96. Pubmed:
Pubtator:
2050740NM_005006.7(NDUFS1):c.2093-8T>C4719NDUFS1Likely benignMedGen:CN517202not providedRCV002814935; -12206989008206989008NC_000002.11:g.206989008A>G-NMay 25, 2022criteria provided, single submitter1
97. Pubmed:
Pubtator:
1203657NM_005006.7(NDUFS1):c.2093-54T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV001581813; 768399432206989054206989054206989054-NNov 09, 2018criteria provided, single submitter1
98. Pubmed:
Pubtator:
2190247NM_005006.7(NDUFS1):c.2058A>G (p.Pro686=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV003040992; -12206991297206991297-NMay 04, 2022criteria provided, single submitter1
99. Pubmed:
Pubtator:
1561315NM_005006.7(NDUFS1):c.2028C>T (p.Asn676=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002104214; 7689846202206991327206991327206991327-NOct 31, 2022criteria provided, multiple submitters, no conflicts2
100. Pubmed:
Pubtator:
1536987NM_005006.7(NDUFS1):c.2019+11G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV002215410; 12267485152206991423206991423206991423-NOct 06, 2022criteria provided, single submitter1
101. Pubmed:
Pubtator:
1639211NM_005006.7(NDUFS1):c.2019+10C>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV002152617; 7562767222206991424206991424206991424-NJan 25, 2022criteria provided, single submitter1
102. Pubmed:
Pubtator:
2087364NM_005006.7(NDUFS1):c.1995C>T (p.Phe665=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002852941; -12206991458206991458-NAug 10, 2022criteria provided, single submitter1
103. Pubmed:
Pubtator:
2068711NM_005006.7(NDUFS1):c.1968T>C (p.Tyr656=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002835084; -12206991485206991485-NJul 12, 2022criteria provided, single submitter1
104. Pubmed:
Pubtator:
1583976NM_005006.7(NDUFS1):c.1885-18G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV002208102; 12561036712206991586206991586206991586-NFeb 05, 2022criteria provided, single submitter1
105. Pubmed:
Pubtator:
1186364NM_005006.7(NDUFS1):c.1884+247A>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV001560870; 1434454352206992274206992274206992274-NJul 07, 2018criteria provided, single submitter1
106. Pubmed:
Pubtator:
1186365NM_005006.7(NDUFS1):c.1884+164T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV001562906; 1137076462206992357206992357206992357-NNov 09, 2018criteria provided, single submitter1
107. Pubmed:
Pubtator:
2050705NM_005006.7(NDUFS1):c.1881T>C (p.Ser627=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002796979; -12206992524206992524-NSep 07, 2022criteria provided, single submitter1
108. Pubmed:
Pubtator:
2819511NM_005006.7(NDUFS1):c.1830G>A (p.Val610=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV003440140; -12206992575206992575-NMay 01, 2023criteria provided, single submitter1
109. Pubmed:
Pubtator:
1545448NM_005006.7(NDUFS1):c.1785A>G (p.Thr595=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002121577; 7575441752206992620206992620206992620-NJul 05, 2022criteria provided, single submitter1
110. Pubmed:
Pubtator:
2038075NM_005006.7(NDUFS1):c.1743T>C (p.Asp581=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002775166; -12206992662206992662-NMay 09, 2022criteria provided, single submitter1
111. Pubmed:
Pubtator:
1526858NM_005006.7(NDUFS1):c.1709-12A>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV002166280; 9866291832206992708206992708206992708-NJul 26, 2022criteria provided, single submitter1
112. Pubmed:
Pubtator:
1214147NM_005006.7(NDUFS1):c.1709-288C>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV001596668; 1512715312206992984206992984206992984-NJul 09, 2018criteria provided, single submitter1
113. Pubmed:
Pubtator:
499484NM_005006.7(NDUFS1):c.1708+19A>G4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000612335|RCV002063290; 117127090922069947932069947932:g.206994793T>CClinGen:CA658796148NNov 22, 2021criteria provided, multiple submitters, no conflicts2
114. Pubmed:
Pubtator:
366888NM_005006.7(NDUFS1):c.1668A>G (p.Thr556=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000442706; 105752189522069948522069948522:g.206994852T>CClinGen:CA16604352NMar 21, 2016criteria provided, single submitter1
115. Pubmed:
Pubtator:
2122966NM_005006.7(NDUFS1):c.1641C>T (p.Leu547=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002975697; -12206994879206994879-NJan 03, 2022criteria provided, single submitter1
116. Pubmed:
Pubtator:
1170877NM_005006.7(NDUFS1):c.1554-116_1554-115del4719NDUFS1Likely benignMedGen:C3661900not providedRCV001541396; 5373699722206995081206995082206995080-NJul 11, 2018criteria provided, single submitter1
117. Pubmed:
Pubtator:
658039NM_005006.7(NDUFS1):c.1554-181_1554-157del4719NDUFS1Likely benignMedGen:CN517202not providedRCV000832489; 56756593922069951232069951472:g.206995123_206995147del-NJun 14, 2018criteria provided, single submitter1
118. Pubmed:
Pubtator:
1176087NM_005006.7(NDUFS1):c.1553+132A>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV001548308; 1477025522206997537206997537206997537-NJun 28, 2018criteria provided, single submitter1
119. Pubmed:
Pubtator:
1646596NM_005006.7(NDUFS1):c.1548T>C (p.Leu516=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002149817; 21059526062206997674206997674206997674-NSep 18, 2021criteria provided, single submitter1
120. Pubmed:
Pubtator:
1922474NM_005006.7(NDUFS1):c.1416A>G (p.Pro472=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002611872; -12206997806206997806-NSep 01, 2022criteria provided, multiple submitters, no conflicts2
121. Pubmed:
Pubtator:
1957723NM_005006.7(NDUFS1):c.1393-18del4719NDUFS1Likely benignMedGen:CN517202not providedRCV002586420; -12206997847206997847NC_000002.11:g.206997847del-NAug 16, 2022criteria provided, single submitter1
122. Pubmed:
Pubtator:
1960565NM_005006.7(NDUFS1):c.1393-18G>T4719NDUFS1Likely benignMedGen:CN517202not providedRCV002576616; -12206997847206997847NC_000002.11:g.206997847C>A-NAug 01, 2022criteria provided, single submitter1
123. Pubmed:
Pubtator:
1205578NM_005006.7(NDUFS1):c.1393-129G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV001585479; 1425169162206997958206997958206997958-NOct 05, 2018criteria provided, single submitter1
124. Pubmed:
Pubtator:
1189787NM_005006.7(NDUFS1):c.1393-298A>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV001565157; 730678132206998127206998127206998127-NNov 09, 2018criteria provided, single submitter1
125. Pubmed: 25741868
Pubtator: 25741868
250510NM_005006.7(NDUFS1):c.1392+19T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000249702; 77014574622070031902070031902:g.207003190A>GClinGen:CA2070470N-criteria provided, single submitter1
126. Pubmed:
Pubtator:
1601589NM_005006.7(NDUFS1):c.1392+18G>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV002158027; 3694133492207003191207003191207003191-NOct 22, 2021criteria provided, single submitter1
127. Pubmed:
Pubtator:
1196805NM_005006.7(NDUFS1):c.1262+325C>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV001576525; 1407191752207006340207006340207006340-NAug 03, 2018criteria provided, single submitter1
128. Pubmed:
Pubtator:
1675757NM_005006.7(NDUFS1):c.1262+143G>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV002244348; 12869808972207006522207006522207006522-NOct 28, 2021criteria provided, single submitter1
129. Pubmed:
Pubtator:
2141266NM_005006.7(NDUFS1):c.1197T>C (p.Val399=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002976145; -12207006730207006730-NOct 13, 2022criteria provided, single submitter1
130. Pubmed:
Pubtator:
658155NM_005006.7(NDUFS1):c.1134-15A>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV000835101; 20107864122070068082070068082:g.207006808T>C-NMay 21, 2018criteria provided, single submitter1
131. Pubmed:
Pubtator:
658178NM_005006.7(NDUFS1):c.1133+194C>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV000832488; 11301077122070072162070072162:g.207007216G>A-NJun 14, 2018criteria provided, single submitter1
132. Pubmed:
Pubtator:
1954036NM_005006.7(NDUFS1):c.1133+11T>C4719NDUFS1Likely benignMedGen:CN517202not providedRCV002572675; -12207007399207007399NC_000002.11:g.207007399A>G-NSep 17, 2022criteria provided, single submitter1
133. Pubmed:
Pubtator:
499923NM_005006.7(NDUFS1):c.1014G>A (p.Val338=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000604356; 76308034822070075292070075292:g.207007529C>TClinGen:CA2070581NDec 11, 2017criteria provided, single submitter1
134. Pubmed:
Pubtator:
1183091NM_005006.7(NDUFS1):c.988-38G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV001558477; 1996195372207007593207007593207007593-NJan 29, 2019criteria provided, single submitter1
135. Pubmed:
Pubtator:
1179427NM_005006.7(NDUFS1):c.987+188C>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV001551229; 1408290242207008554207008554207008554-NJul 15, 2018criteria provided, single submitter1
136. Pubmed:
Pubtator:
1209490NM_005006.7(NDUFS1):c.987+181A>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV001588601; 763910302207008561207008561207008561-NJul 07, 2018criteria provided, single submitter1
137. Pubmed:
Pubtator:
499485NM_005006.7(NDUFS1):c.987+18dup4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000606385; 12124118712207008723207008724NC_000002.11:g.207008724dupClinGen:CA539058052NAug 25, 2017criteria provided, single submitter1
138. Pubmed:
Pubtator:
1544806NM_005006.7(NDUFS1):c.972T>G (p.Ser324=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002177069; 5417892992207008757207008757207008757-NDec 03, 2021criteria provided, single submitter1
139. Pubmed:
Pubtator:
1559630NM_005006.7(NDUFS1):c.966G>A (p.Ala322=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002213345; 11275662207008763207008763207008763-NAug 10, 2022criteria provided, single submitter1
140. Pubmed:
Pubtator:
366313NM_005006.7(NDUFS1):c.933A>G (p.Lys311=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000423269; 105752304122070087962070087962:g.207008796T>CClinGen:CA16604100NAug 09, 2016criteria provided, single submitter1
141. Pubmed:
Pubtator:
1532010NM_005006.7(NDUFS1):c.909C>T (p.Thr303=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002077703; 5645761522207008820207008820207008820-NDec 02, 2021criteria provided, single submitter1
142. Pubmed:
Pubtator:
366317NM_005006.7(NDUFS1):c.873-9G>A4719NDUFS1Likely benignCN517202 not provided; MedGen:C3661900not providedRCV000676274; 18089990822070088652070088652:g.207008865C>TClinGen:CA2070629NNov 01, 2022criteria provided, multiple submitters, no conflicts3
143. Pubmed:
Pubtator:
2074441NM_005006.7(NDUFS1):c.872+12A>G4719NDUFS1Likely benignMedGen:CN517202not providedRCV002843274; -12207009604207009604NC_000002.11:g.207009604T>C-NJul 01, 2022criteria provided, single submitter1
144. Pubmed:
Pubtator:
2143331NM_005006.7(NDUFS1):c.872+10A>T4719NDUFS1Likely benignMedGen:CN517202not providedRCV003008952; -12207009606207009606NC_000002.11:g.207009606T>A-NApr 10, 2022criteria provided, single submitter1
145. Pubmed:
Pubtator:
1581596NM_005006.7(NDUFS1):c.780T>C (p.Asn260=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002071300; 12364052762207009708207009708207009708-NDec 02, 2021criteria provided, single submitter1
146. Pubmed:
Pubtator:
1650505NM_005006.7(NDUFS1):c.738-15G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV002118826; 3768710542207009765207009765207009765-NOct 09, 2022criteria provided, single submitter1
147. Pubmed:
Pubtator:
1585141NM_005006.7(NDUFS1):c.666C>T (p.Ile222=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV002083097; 9066768932207011698207011698207011698-NSep 01, 2022criteria provided, single submitter1
148. Pubmed:
Pubtator:
1888204NM_005006.7(NDUFS1):c.654G>A (p.Leu218=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV003083497; -12207011710207011710-NJun 19, 2022criteria provided, single submitter1
149. Pubmed:
Pubtator:
499881NM_005006.7(NDUFS1):c.636G>A (p.Lys212=)4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000614581; 155350670222070117282070117282:g.207011728C>TClinGen:CA430955000NJan 23, 2017criteria provided, single submitter1
150. Pubmed:
Pubtator:
1900100NM_005006.7(NDUFS1):c.570A>G (p.Ala190=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV003088846; -12207011794207011794-NMar 08, 2022criteria provided, single submitter1
151. Pubmed:
Pubtator:
1624439NM_005006.7(NDUFS1):c.552-19C>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV002150522; 3725095972207011831207011831207011831-NAug 18, 2022criteria provided, single submitter1
152. Pubmed:
Pubtator:
499924NM_005006.7(NDUFS1):c.551+10T>G4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000616790; 155350682422070122452070122452:g.207012245A>CClinGen:CA658796149NJan 31, 2017criteria provided, single submitter1
153. Pubmed:
Pubtator:
1948587NM_005006.7(NDUFS1):c.460T>C (p.Leu154=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV003118421; -12207012346207012346-NMar 11, 2022criteria provided, single submitter1
154. Pubmed:
Pubtator:
1526784NM_005006.7(NDUFS1):c.421-20T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV002084422; 21059750762207012405207012405207012405-NNov 15, 2021criteria provided, single submitter1
155. Pubmed:
Pubtator:
1998830NM_005006.7(NDUFS1):c.420+7A>G4719NDUFS1Likely benignMedGen:CN517202not providedRCV002680735; -12207012470207012470NC_000002.11:g.207012470T>C-NJul 23, 2022criteria provided, single submitter1
156. Pubmed:
Pubtator:
366075NM_005006.7(NDUFS1):c.348G>A (p.Val116=)4719NDUFS1Likely benignCN169374 not specified; MedGen:C3661900not providedRCV001703628; 14586830222070125492070125492:g.207012549C>TClinGen:CA2070798NOct 04, 2022criteria provided, multiple submitters, no conflicts2
157. Pubmed:
Pubtator:
1189788NM_005006.7(NDUFS1):c.338+153T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV001567766; 730678382207013591207013591207013591-NNov 09, 2018criteria provided, single submitter1
158. Pubmed:
Pubtator:
1943377NM_005006.7(NDUFS1):c.297T>G (p.Gly99=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV003108771; -12207013785207013785-NSep 01, 2022criteria provided, single submitter1
159. Pubmed: 28492532
Pubtator: 28492532
777173NM_005006.7(NDUFS1):c.262-10G>T4719NDUFS1Likely benignMedGen:CN517202not providedRCV000953702; 122632292322070138302070138302:g.207013830C>A-NJun 14, 2017criteria provided, single submitter1
160. Pubmed:
Pubtator:
1189789NM_005006.7(NDUFS1):c.262-150A>G4719NDUFS1Likely benignMedGen:C3661900not providedRCV001568059; 562694072207013970207013970207013970-NNov 27, 2018criteria provided, single submitter1
161. Pubmed:
Pubtator:
1200523NM_005006.7(NDUFS1):c.261+179_261+182del4719NDUFS1Likely benignMedGen:C3661900not providedRCV001581246; 2013912352207014360207014363207014359-NJul 07, 2018criteria provided, single submitter1
162. Pubmed:
Pubtator:
1588611NM_005006.7(NDUFS1):c.261+9T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV002188686; 10218890902207014533207014533207014533-NAug 08, 2022criteria provided, single submitter1
163. Pubmed:
Pubtator:
2131476NM_005006.7(NDUFS1):c.154-10_154-5del4719NDUFS1Likely benignMedGen:CN517202not providedRCV002985512; -12207014654207014659NC_000002.11:g.207014656_207014661del-NFeb 23, 2022criteria provided, single submitter1
164. Pubmed: 28492532
Pubtator: 28492532
777235NM_005006.7(NDUFS1):c.154-23_154-9dup4719NDUFS1Likely benignMedGen:CN517202not providedRCV000953446; 56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAA-NJun 14, 2017criteria provided, single submitter1
165. Pubmed:
Pubtator:
549891NM_005006.7(NDUFS1):c.154-9del4719NDUFS1Likely benignCN517202 not provided; MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|not specified|Mitochondrial complex 1 deficiency, nuclear type 5RCV000676279|RCV001700445|RCV002493117; 5689656592207014658207014658NC_000002.11:g.207014682del-NSep 02, 2021criteria provided, multiple submitters, no conflicts6
166. Pubmed:
Pubtator:
1541947NM_005006.7(NDUFS1):c.154-20_154-9del4719NDUFS1Likely benignMedGen:C3661900not providedRCV002116759; 5689656592207014658207014669207014657-NJan 11, 2022criteria provided, single submitter1
167. Pubmed:
Pubtator:
1274323NM_005006.7(NDUFS1):c.154-13_154-9del4719NDUFS1Likely benignMedGen:CN169374|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not specified|Mitochondrial complex 1 deficiency, nuclear type 5RCV001699730|RCV002503153; 5689656592207014658207014662207014657-NOct 13, 2021criteria provided, single submitter3
168. Pubmed:
Pubtator:
366909NM_005006.7(NDUFS1):c.154-15T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN517202not providedRCV001703522; 7937088222070146642070146642:g.207014664A>GClinGen:CA2070870NOct 25, 2022criteria provided, multiple submitters, no conflicts2
169. Pubmed:
Pubtator:
1536041NM_005006.7(NDUFS1):c.154-16T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV002144327; 7584922122207014665207014665207014665-NSep 12, 2022criteria provided, single submitter1
170. Pubmed:
Pubtator:
1112134NM_005006.7(NDUFS1):c.154-17T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV001454077; 7778657382207014666207014666207014666-NOct 24, 2022criteria provided, single submitter1
171. Pubmed:
Pubtator:
1617525NM_005006.7(NDUFS1):c.154-18T>C4719NDUFS1Likely benignMedGen:C3661900not providedRCV002114552; 7520104252207014667207014667207014667-NOct 17, 2022criteria provided, single submitter1
172. Pubmed:
Pubtator:
366322NM_005006.7(NDUFS1):c.154-19T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000425814; 75772456622070146682070146682:g.207014668A>GClinGen:CA2070874NFeb 03, 2016criteria provided, single submitter1
173. Pubmed:
Pubtator:
1189791NM_005006.7(NDUFS1):c.154-126TAGA[12]4719NDUFS1Likely benignMedGen:C3661900not providedRCV001565500; 32171402207014747207014748207014747-NJul 07, 2018criteria provided, single submitter1
174. Pubmed:
Pubtator:
658045NM_005006.7(NDUFS1):c.154-291G>A4719NDUFS1Likely benignMedGen:C3661900not providedRCV000832487; 11593221922070149402070149402:g.207014940C>T-NJun 14, 2018criteria provided, single submitter1
175. Pubmed:
Pubtator:
366327NM_005006.7(NDUFS1):c.153+9A>G4719NDUFS1Likely benignCN517202 not provided; MedGen:CN169374|MedGen:C3661900not specified|not providedRCV000444343|RCV000676280; 20067516122070171342070171342:g.207017134T>CClinGen:CA2070894NNov 01, 2022criteria provided, multiple submitters, no conflicts3
176. Pubmed:
Pubtator:
2126991NM_005006.7(NDUFS1):c.78A>G (p.Thr26=)4719NDUFS1Likely benignMedGen:CN517202not providedRCV002967471; -12207017218207017218-NJan 04, 2022criteria provided, single submitter1
177. Pubmed:
Pubtator:
1186366NM_005006.7(NDUFS1):c.62-243C>T4719NDUFS1Likely benignMedGen:C3661900not providedRCV001562446; 1495808282207017477207017477207017477-NJun 26, 2018criteria provided, single submitter1
178. Pubmed:
Pubtator:
1244842NM_005006.7(NDUFS1):c.12A>C (p.Ile4=)4719NDUFS1Likely benignMedGen:C3661900not providedRCV001659091; 7491304102207018391207018391207018391-NJan 26, 2021criteria provided, single submitter1
179. Pubmed:
Pubtator:
499487NM_005006.7(NDUFS1):c.-5+18T>C4719NDUFS1Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000603683; 138682441422070240472070240472:g.207024047A>GClinGen:CA539059524NOct 19, 2017criteria provided, single submitter1
180. 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:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV001138267|RCV001138268|RCV001796372; 7306579022069883352069883352:g.206988335A>C-NMay 24, 2021criteria provided, multiple submitters, no conflicts2
181. Pubmed:
Pubtator:
883455NM_005006.7(NDUFS1):c.*53T>G4719NDUFS1Benign/Likely benignMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001143110|RCV001143109|RCV001552479; 11633591922069888562069888562:g.206988856A>C-NJul 09, 2018criteria provided, multiple submitters, no conflicts2
182. Pubmed:
Pubtator:
887243NM_005006.7(NDUFS1):c.1393-7T>A4719NDUFS1Benign/Likely benignMONDO: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 providedRCV001141371|RCV001141370|RCV001510839; 20040928522069978362069978362:g.206997836A>T-NSep 07, 2022criteria provided, multiple submitters, no conflicts3
183. Pubmed:
Pubtator:
366072NM_005006.7(NDUFS1):c.1262+17A>G4719NDUFS1Benign/Likely benignCN169374 not specified; MedGen:CN169374|MedGen:C3661900not specified|not providedRCV000439296|RCV002061446; 14469582622070066482070066482:g.207006648T>CClinGen:CA2070514NSep 01, 2022criteria provided, multiple submitters, no conflicts2
184. Pubmed:
Pubtator:
142180NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)4719NDUFS1Benign/Likely benignCN517202 not provided; MedGen:CN169374|MedGen:C3661900not specified|not providedRCV000127142|RCV000676272; 7294482722070075142070075142:g.207007514A>CClinGen:CA292486NNov 01, 2023criteria provided, multiple submitters, no conflicts4
185. Pubmed:
Pubtator:
1189790NM_005006.7(NDUFS1):c.154-33dup4719NDUFS1Benign/Likely benignMedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV001566492|RCV002506670; 5689656592207014657207014658207014657-NDec 21, 2021criteria provided, multiple submitters, no conflicts2
186. Pubmed:
Pubtator:
658032NM_005006.7(NDUFS1):c.2093-170G>T4719NDUFS1BenignMedGen:C3661900not providedRCV000843218; 204585822069891702069891702:g.206989170C>A-NJun 14, 2018criteria provided, single submitter1
187. Pubmed:
Pubtator:
658036NM_005006.7(NDUFS1):c.2092+279T>C4719NDUFS1BenignMedGen:C3661900not providedRCV000843198; 414772722069909842069909842:g.206990984A>G-NJun 14, 2018criteria provided, single submitter1
188. Pubmed:
Pubtator:
1231747NM_005006.7(NDUFS1):c.2092+149A>T4719NDUFS1BenignMedGen:C3661900not providedRCV001648054; 101841252206991114206991114206991114-NJul 09, 2018criteria provided, single submitter1
189. Pubmed:
Pubtator:
142184NM_005006.7(NDUFS1):c.2019+18A>T4719NDUFS1BenignCN169374 not specified; MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not specified|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000127146|RCV001523381|RCV001803002; 5579363022069914162069914162:g.206991416T>AClinGen:CA292491NNov 02, 2022criteria provided, multiple submitters, no conflicts3
190. Pubmed:
Pubtator:
1221935NM_005006.7(NDUFS1):c.1884+150C>T4719NDUFS1BenignMedGen:C3661900not providedRCV001616731; 41477262206992371206992371206992371-NJun 23, 2018criteria provided, single submitter1
191. Pubmed:
Pubtator:
658163NM_005006.7(NDUFS1):c.1709-291A>G4719NDUFS1BenignMedGen:C3661900not providedRCV000828591; 1247232922069929872069929872:g.206992987T>C-NJun 14, 2018criteria provided, single submitter1
192. Pubmed:
Pubtator:
1281218NM_005006.7(NDUFS1):c.1554-44T>C4719NDUFS1BenignMedGen:C3661900not providedRCV001713375; 41477252206995010206995010206995010-NJun 23, 2018criteria provided, single submitter1
193. Pubmed:
Pubtator:
1257573NM_005006.7(NDUFS1):c.1554-123AAAAT[5]4719NDUFS1BenignMedGen:C3661900not providedRCV001675246; 2012690602206995069206995070206995069-NJul 09, 2018criteria provided, single submitter1
194. Pubmed:
Pubtator:
1247127NM_005006.7(NDUFS1):c.1554-152C>T4719NDUFS1BenignMedGen:C3661900not providedRCV001665896; 101851642206995118206995118206995118-NJul 09, 2018criteria provided, single submitter1
195. Pubmed:
Pubtator:
658164NM_005006.7(NDUFS1):c.1554-173G>T4719NDUFS1BenignMedGen:CN517202not providedRCV000843197; 377098722069951392069951392:g.206995139C>A-NJun 14, 2018criteria provided, single submitter1
196. Pubmed:
Pubtator:
658167NM_005006.7(NDUFS1):c.1554-274C>T4719NDUFS1BenignMedGen:C3661900not providedRCV000843194; 414772322069952402069952402:g.206995240G>A-NJun 14, 2018criteria provided, single submitter1
197. Pubmed:
Pubtator:
658147NM_005006.7(NDUFS1):c.1553+250C>T4719NDUFS1BenignMedGen:C3661900not providedRCV000843193; 414772122069974192069974192:g.206997419G>A-NJun 14, 2018criteria provided, single submitter1
198. Pubmed:
Pubtator:
1251462NM_005006.7(NDUFS1):c.1553+24T>C4719NDUFS1BenignMedGen:C3661900not providedRCV001674133; 101708502206997645206997645206997645-NJul 09, 2018criteria provided, single submitter1
199. Pubmed:
Pubtator:
1153957NM_005006.7(NDUFS1):c.1393-17dup4719NDUFS1BenignMedGen:C3661900not providedRCV001517780; 7602922892206997835206997836206997835-NOct 24, 2022criteria provided, single submitter1
200. Pubmed:
Pubtator:
658169NM_005006.7(NDUFS1):c.1393-221T>C4719NDUFS1BenignMedGen:C3661900not providedRCV000843190; 414772022069980502069980502:g.206998050A>G-NJun 14, 2018criteria provided, single submitter1
201. Pubmed:
Pubtator:
1223579NM_005006.7(NDUFS1):c.1392+249C>T4719NDUFS1BenignMedGen:C3661900not providedRCV001617293; 67104642207002960207002960207002960-NJul 09, 2018criteria provided, single submitter1
202. Pubmed:
Pubtator:
1263941NM_005006.7(NDUFS1):c.1263-101del4719NDUFS1BenignMedGen:C3661900not providedRCV001681855; 41477292207003439207003439207003438-NJun 23, 2018criteria provided, single submitter1
203. Pubmed:
Pubtator:
658171NM_005006.7(NDUFS1):c.1263-333A>G4719NDUFS1BenignMedGen:C3661900not providedRCV000828590; 15112327322070036712070036712:g.207003671T>C-NJun 14, 2018criteria provided, single submitter1
204. Pubmed:
Pubtator:
658041NM_005006.7(NDUFS1):c.1262+199C>T4719NDUFS1BenignMedGen:C3661900not providedRCV000843189; 643532722070064662070064662:g.207006466G>A-NJun 14, 2018criteria provided, single submitter1
205. Pubmed:
Pubtator:
1253475NM_005006.7(NDUFS1):c.1262+126_1262+127dup4719NDUFS1BenignMedGen:C3661900not providedRCV001667403; 2009612052207006522207006523207006522-NAug 13, 2019criteria provided, single submitter1
206. Pubmed:
Pubtator:
1225436NM_005006.7(NDUFS1):c.1262+126dup4719NDUFS1BenignMedGen:C3661900not providedRCV001618951; 2009612052207006522207006523207006522-NAug 06, 2019criteria provided, single submitter1
207. Pubmed:
Pubtator:
1281217NM_005006.7(NDUFS1):c.1134-32G>T4719NDUFS1BenignMedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV001713374|RCV001779333; 41477182207006825207006825207006825-NSep 05, 2021criteria provided, multiple submitters, no conflicts2
208. Pubmed:
Pubtator:
1243392NM_005006.7(NDUFS1):c.1133+284dup4719NDUFS1BenignMedGen:C3661900not providedRCV001663009; 1997635182207007125207007126207007125-NJul 07, 2018criteria provided, single submitter1
209. Pubmed:
Pubtator:
658173NM_005006.7(NDUFS1):c.1133+283G>A4719NDUFS1BenignMedGen:C3661900not providedRCV000842898; 414771722070071272070071272:g.207007127C>T-NJun 14, 2018criteria provided, single submitter1
210. Pubmed:
Pubtator:
658174NM_005006.7(NDUFS1):c.1133+233C>T4719NDUFS1BenignMedGen:C3661900not providedRCV000828588; 414771622070071772070071772:g.207007177G>A-NJun 14, 2018criteria provided, single submitter1
211. Pubmed:
Pubtator:
142181NM_005006.7(NDUFS1):c.1133+20G>A4719NDUFS1BenignCN169374 not specified; MedGen:CN169374|MedGen:C3661900not specified|not providedRCV000127143|RCV001523311; 643532822070073902070073902:g.207007390C>TClinGen:CA292488NNov 01, 2022criteria provided, multiple submitters, no conflicts2
212. Pubmed:
Pubtator:
1283044NM_005006.7(NDUFS1):c.988-91G>C4719NDUFS1BenignMedGen:C3661900not providedRCV001717450; 75775362207007646207007646207007646-NJul 09, 2018criteria provided, single submitter1
213. Pubmed:
Pubtator:
1270207NM_005006.7(NDUFS1):c.987+171_987+172insAG4719NDUFS1BenignMedGen:C3661900not providedRCV001695495; 355119472207008570207008571207008570-NJul 09, 2018criteria provided, single submitter1
214. Pubmed:
Pubtator:
1266965NM_005006.7(NDUFS1):c.987+66_987+67insA4719NDUFS1BenignMedGen:C3661900not providedRCV001690401; 354094482207008675207008676207008675-NJun 23, 2018criteria provided, single submitter1
215. Pubmed:
Pubtator:
1250266NM_005006.7(NDUFS1):c.872+255T>C4719NDUFS1BenignMedGen:C3661900not providedRCV001673879; 101906192207009361207009361207009361-NJul 09, 2018criteria provided, single submitter1
216. Pubmed:
Pubtator:
1237797NM_005006.7(NDUFS1):c.738-157G>A4719NDUFS1BenignMedGen:C3661900not providedRCV001651918; 124652292207009907207009907207009907-NJul 07, 2018criteria provided, single submitter1
217. Pubmed:
Pubtator:
1219880NM_005006.7(NDUFS1):c.738-254G>A4719NDUFS1BenignMedGen:C3661900not providedRCV001612261; 118860042207010004207010004207010004-NJul 09, 2018criteria provided, single submitter1
218. Pubmed:
Pubtator:
1263839NM_005006.7(NDUFS1):c.737+232T>C4719NDUFS1BenignMedGen:C3661900not providedRCV001682540; 75987792207011395207011395207011395-NJul 09, 2018criteria provided, single submitter1
219. Pubmed:
Pubtator:
1251193NM_005006.7(NDUFS1):c.552-206A>G4719NDUFS1BenignMedGen:C3661900not providedRCV001674861; 124657642207012018207012018207012018-NJul 07, 2018criteria provided, single submitter1
220. Pubmed:
Pubtator:
1276007NM_005006.7(NDUFS1):c.551+221T>C4719NDUFS1BenignMedGen:C3661900not providedRCV001709945; 756101652207012034207012034207012034-NJun 26, 2018criteria provided, single submitter1
221. Pubmed:
Pubtator:
405544NM_005006.7(NDUFS1):c.339-20_339-19del4719NDUFS1BenignMedGen:CN169374|MedGen:CN517202not specified|not providedRCV000480716|RCV001523542; 1116671002207012577207012578NC_000002.11:g.207012578TA[1]ClinGen:CA2070802NNov 01, 2022criteria provided, multiple submitters, no conflicts2
222. Pubmed:
Pubtator:
1252620NM_005006.7(NDUFS1):c.339-90_339-86del4719NDUFS1BenignMedGen:C3661900not providedRCV001669944; 665504642207012644207012648207012643-NAug 09, 2019criteria provided, single submitter1
223. Pubmed:
Pubtator:
658042NM_005006.7(NDUFS1):c.261+201_261+202dup4719NDUFS1BenignMedGen:CN517202not providedRCV000842895; 321713922070143392070143402:g.207014339_207014340insAC-NJun 14, 2018criteria provided, single submitter1
224. Pubmed: 28492532
Pubtator: 28492532
777231NM_005006.7(NDUFS1):c.154-27_154-9dup4719NDUFS1BenignMedGen:CN517202not providedRCV000950385; 56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAAAA-NJun 08, 2017criteria provided, single submitter1
225. Pubmed: 28492532
Pubtator: 28492532
777232NM_005006.7(NDUFS1):c.154-14_154-9dup4719NDUFS1BenignMedGen:CN517202not providedRCV000959835; 56896565922070146572070146582:g.207014657_207014658insAAAAAA-NJun 14, 2017criteria provided, single submitter1
226. Pubmed: 28492532
Pubtator: 28492532
777174NM_005006.7(NDUFS1):c.154-25_154-9dup4719NDUFS1BenignMedGen:CN517202not providedRCV000951062; 56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAA-NJun 26, 2018criteria provided, single submitter1
227. Pubmed: 28492532
Pubtator: 28492532
777177NM_005006.7(NDUFS1):c.154-26_154-9dup4719NDUFS1BenignMedGen:CN517202not providedRCV000949250; 56896565922070146572070146582:g.207014657_207014658insAAAAAAAAAAAAAAAAAA-NMay 24, 2017criteria provided, single submitter1
228. 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; 56896565922070146582070146602:g.207014658_207014660delClinGen:CA2070863NOct 25, 2022criteria provided, multiple submitters, no conflicts4
229. Pubmed: 28492532
Pubtator: 28492532
549890NM_005006.7(NDUFS1):c.154-12_154-9del4719NDUFS1BenignCN517202 not provided; MedGen:CN517202not providedRCV000676278; 5689656592207014658207014661NC_000002.11:g.207014679_207014682del-NAug 09, 2019criteria provided, multiple submitters, no conflicts3
230. Pubmed: 28492532
Pubtator: 28492532
777223NM_005006.7(NDUFS1):c.154-14_154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000958897; 56896565922070146582070146632:g.207014658_207014663del-NAug 04, 2017criteria provided, single submitter1
231. Pubmed: 28492532
Pubtator: 28492532
777227NM_005006.7(NDUFS1):c.154-15_154-9del4719NDUFS1BenignMedGen:CN517202not providedRCV000946664; 56896565922070146582070146642:g.207014658_207014664del-NMay 08, 2017criteria provided, single submitter1
232. 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; 321714022070147472070147482:g.207014747_207014748insTCTA-NMay 28, 2019criteria provided, multiple submitters, no conflicts2
233. Pubmed:
Pubtator:
1250002NM_005006.7(NDUFS1):c.154-126TAGA[11]4719NDUFS1BenignMedGen:C3661900not providedRCV001673615; 32171402207014747207014748207014747-NJun 23, 2018criteria provided, single submitter1
234. Pubmed:
Pubtator:
1217504NM_005006.7(NDUFS1):c.154-126TAGA[10]4719NDUFS1BenignMedGen:C3661900not providedRCV001608410; 32171402207014747207014748207014747-NJun 26, 2018criteria provided, single submitter1
235. 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; 321714022070147472070147482:g.207014747_207014748insTCTATCTA-NMay 28, 2019criteria provided, multiple submitters, no conflicts2
236. Pubmed:
Pubtator:
1220288NM_005006.7(NDUFS1):c.154-156G>T4719NDUFS1BenignMedGen:C3661900not providedRCV001610272; 101688652207014805207014805207014805-NJul 09, 2018criteria provided, single submitter1
237. Pubmed:
Pubtator:
657993NM_005006.7(NDUFS1):c.154-177_154-176insAG4719NDUFS1BenignMedGen:C3661900not providedRCV000832908; 20123302922070148252070148262:g.207014825_207014826insCT-NJun 14, 2018criteria provided, single submitter1
238. Pubmed:
Pubtator:
1170878NM_005006.7(NDUFS1):c.154-219C>T4719NDUFS1BenignMedGen:C3661900not providedRCV001539851; 101690382207014868207014868207014868-NJul 09, 2018criteria provided, single submitter1
239. Pubmed:
Pubtator:
1261244NM_005006.7(NDUFS1):c.153+150G>T4719NDUFS1BenignMedGen:C3661900not providedRCV001679918; 133943302207016993207016993207016993-NJul 09, 2018criteria provided, single submitter1
240. Pubmed:
Pubtator:
1221968NM_005006.7(NDUFS1):c.62-194del4719NDUFS1BenignMedGen:C3661900not providedRCV001616765; 710344112207017428207017428207017427-NAug 06, 2019criteria provided, single submitter1
241. Pubmed:
Pubtator:
1258410NM_005006.7(NDUFS1):c.62-255G>A4719NDUFS1BenignMedGen:C3661900not providedRCV001685829; 1442942962207017489207017489207017489-NJul 09, 2018criteria provided, single submitter1
242. Pubmed:
Pubtator:
1170879NM_005006.7(NDUFS1):c.-4-251A>G4719NDUFS1BenignMedGen:C3661900not providedRCV001540308; 134145812207018657207018657207018657-NJul 09, 2018criteria provided, single submitter1
243. Pubmed:
Pubtator:
1286279NM_005006.7(NDUFS1):c.-5+137G>A4719NDUFS1BenignMedGen:C3661900not providedRCV001720807; 1150846212207023928207023928207023928-NMay 26, 2021criteria provided, single submitter1
244. 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; 91760481022069878322069878322:g.206987832T>A-NJan 13, 2018criteria provided, single submitter1
245. 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; 78049809022069879712069879712:g.206987971G>A-NJan 13, 2018criteria provided, single submitter1
246. Pubmed:
Pubtator:
883449NM_005006.7(NDUFS1):c.*864G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001143009|RCV001143008; 169115972222069880452069880452:g.206988045C>T-NJan 12, 2018criteria provided, single submitter1
247. 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; 169117384322069884502069884502:g.206988450T>C-NJan 12, 2018criteria provided, single submitter1
248. 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; 20073657422069887792069887792:g.206988779T>G-NJan 12, 2018criteria provided, single submitter1
249. Pubmed:
Pubtator:
2003685NM_005006.7(NDUFS1):c.2179T>C (p.Cys727Arg)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002653081; -12206988914206988914NC_000002.11:g.206988914A>G-NAug 22, 2022criteria provided, single submitter1
250. Pubmed:
Pubtator:
1981548NM_005006.7(NDUFS1):c.2153C>T (p.Ala718Val)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002645639; -12206988940206988940NC_000002.11:g.206988940G>A-NFeb 18, 2022criteria provided, single submitter1
251. Pubmed:
Pubtator:
1289376NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C3661900Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV001728127|RCV002538694; 7710128522206988953206988953206988953-NAug 19, 2022criteria provided, multiple submitters, no conflicts2
252. Pubmed: 25741868, 25326635
Pubtator: 25741868 25326635
552061NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202Mitochondrial complex I deficiency|not providedRCV000680046|RCV003153798; 76567784022069889642069889642:g.206988964C>T-NSep 15, 2022criteria provided, multiple submitters, no conflicts2
253. Pubmed:
Pubtator:
1351827NM_005006.7(NDUFS1):c.2098A>G (p.Ile700Val)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001998583; 7556819832206988995206988995206988995-NJun 17, 2022criteria provided, single submitter1
254. Pubmed:
Pubtator:
1015960NM_005006.7(NDUFS1):c.2092+9T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Mitochondrial complex I deficiency, nuclear type 1RCV001332552; 11731295422206991254206991254206991254-NJan 16, 2019criteria provided, single submitter1
255. Pubmed:
Pubtator:
2173280NM_005006.7(NDUFS1):c.2092+7A>C4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV003025212; -12206991256206991256NC_000002.11:g.206991256T>G-NApr 07, 2022criteria provided, single submitter1
256. Pubmed:
Pubtator:
1293292NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001756512; 7734654012206991271206991271206991271-NMar 03, 2020criteria provided, single submitter1
257. Pubmed:
Pubtator:
2436398NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003190054; -12206991284206991284-NFeb 08, 2023criteria provided, single submitter1
258. Pubmed:
Pubtator:
2074377NM_005006.7(NDUFS1):c.1995C>A (p.Phe665Leu)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002829399; -12206991458206991458NC_000002.11:g.206991458G>T-NNov 28, 2021criteria provided, single submitter1
259. Pubmed:
Pubtator:
2839234NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003448793; -12206991463206991463-NFeb 14, 2023criteria provided, single submitter1
260. Pubmed:
Pubtator:
1374869NM_005006.7(NDUFS1):c.1960G>C (p.Val654Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001947643; 14560976162206991493206991493206991493-NAug 31, 2022criteria provided, single submitter1
261. Pubmed:
Pubtator:
1507249NM_005006.7(NDUFS1):c.1907A>G (p.Tyr636Cys)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001962607; 7795143722206991546206991546206991546-NSep 07, 2022criteria provided, single submitter1
262. Pubmed:
Pubtator:
1378612NM_005006.7(NDUFS1):c.1898C>T (p.Thr633Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002029953; 21059439602206991555206991555206991555-NJul 12, 2022criteria provided, single submitter1
263. Pubmed:
Pubtator:
1416877NM_005006.7(NDUFS1):c.1853A>G (p.Glu618Gly)4719NDUFS1Uncertain significanceMedGen:C3661900|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV001998217|RCV003264361; 7539777552206992552206992552206992552-NMay 28, 2023criteria provided, multiple submitters, no conflicts2
264. Pubmed:
Pubtator:
1977886NM_005006.7(NDUFS1):c.1814A>T (p.Gln605Leu)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002590373; -12206992591206992591NC_000002.11:g.206992591T>A-NAug 04, 2022criteria provided, single submitter1
265. Pubmed:
Pubtator:
2019700NM_005006.7(NDUFS1):c.1787A>G (p.Tyr596Cys)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV002701340|RCV002701339; -12206992618206992618NC_000002.11:g.206992618T>C-NDec 28, 2022criteria provided, multiple submitters, no conflicts2
266. Pubmed:
Pubtator:
1914536NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV002611362|RCV002611363; -12206992625206992625NC_000002.11:g.206992625C>T-NAug 20, 2022criteria provided, multiple submitters, no conflicts2
267. Pubmed:
Pubtator:
1701624NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV002283853; -12206992629206992629206992629-NSep 01, 2022criteria provided, single submitter1
268. Pubmed:
Pubtator:
1384591NM_005006.7(NDUFS1):c.1772A>G (p.Glu591Gly)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001981304; 9547794422206992633206992633206992633-NJun 13, 2022criteria provided, single submitter1
269. Pubmed:
Pubtator:
2368952NM_005006.7(NDUFS1):c.1759G>C (p.Ala587Pro)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003001393; -12206992646206992646NC_000002.11:g.206992646C>G-NJan 31, 2022criteria provided, single submitter1
270. 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:252010|MedGen:CN517202|MeSH:D030342,MedGen:C0950123Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Inborn genetic diseasesRCV001136553|RCV001136554|RCV002556899|RCV002556898; 77311103722069926572069926572:g.206992657A>G-NAug 16, 2022criteria provided, multiple submitters, no conflicts3
271. Pubmed:
Pubtator:
1397667NM_005006.7(NDUFS1):c.1730C>A (p.Ala577Asp)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001992575; 16913578172206992675206992675206992675-NAug 24, 2021criteria provided, single submitter1
272. Pubmed:
Pubtator:
210740NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:C3661900Inborn genetic diseases|not providedRCV003270359|RCV003436006; 8632241022206994850206994850-NAug 01, 2023criteria provided, multiple submitters, no conflicts2
273. Pubmed:
Pubtator:
1966488NM_005006.7(NDUFS1):c.1666A>C (p.Thr556Pro)4719NDUFS1Uncertain significanceMedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002589547|RCV003167452; -12206994854206994854NC_000002.11:g.206994854T>G-NFeb 13, 2023criteria provided, multiple submitters, no conflicts2
274. Pubmed:
Pubtator:
2839191NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003448749; -12206994869206994869-NMar 01, 2023criteria provided, single submitter1
275. Pubmed:
Pubtator:
2270140NM_005006.7(NDUFS1):c.1646G>A (p.Gly549Glu)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002818144; -12206994874206994874NC_000002.11:g.206994874C>T-NFeb 17, 2022criteria provided, single submitter1
276. Pubmed:
Pubtator:
2782728NM_005006.7(NDUFS1):c.1630G>T (p.Val544Leu)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003376980; -12206994890206994890-NAug 15, 2023criteria provided, single submitter1
277. Pubmed:
Pubtator:
1015961NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001332551|RCV003225178; 7622284592206994896206994896206994896-NOct 26, 2022criteria provided, multiple submitters, no conflicts2
278. Pubmed:
Pubtator:
1344903NM_005006.7(NDUFS1):c.1613G>A (p.Arg538Gln)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001989581; 7680620852206994907206994907206994907-NJul 19, 2022criteria provided, single submitter1
279. 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:506|MedGen:C3661900Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV001138790|RCV001138791|RCV001799736; 13888712822069949082069949082:g.206994908G>A-NOct 20, 2023criteria provided, multiple submitters, no conflicts3
280. Pubmed:
Pubtator:
2439328NM_005006.7(NDUFS1):c.1610T>C (p.Ile537Thr)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003196445; -12206994910206994910-NMar 02, 2023criteria provided, single submitter1
281. Pubmed:
Pubtator:
2032857NM_005006.7(NDUFS1):c.1589A>G (p.Tyr530Cys)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002740842; -12206994931206994931NC_000002.11:g.206994931T>C-NJun 07, 2022criteria provided, single submitter1
282. Pubmed:
Pubtator:
619933NM_005006.7(NDUFS1):c.1554-1G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000778153; 10564334522206994967206994967NC_000002.11:g.206994967C>T-NApr 05, 2019criteria provided, single submitter1
283. Pubmed:
Pubtator:
1935379NM_005006.7(NDUFS1):c.1546C>T (p.Leu516Phe)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV002510712; -12206997676206997676NC_000002.11:g.206997676G>A-N-criteria provided, single submitter1
284. 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; 143427581622069976972069976972:g.206997697C>A-NJan 13, 2018criteria provided, single submitter1
285. Pubmed:
Pubtator:
2103519NM_005006.7(NDUFS1):c.1522G>A (p.Gly508Ser)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002908776; -12206997700206997700NC_000002.11:g.206997700C>T-NApr 21, 2022criteria provided, single submitter1
286. Pubmed:
Pubtator:
1881201NM_005006.7(NDUFS1):c.1505T>G (p.Met502Arg)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV003063617|RCV003081261; -12206997717206997717NC_000002.11:g.206997717A>C-NJul 19, 2022criteria provided, multiple submitters, no conflicts2
287. Pubmed:
Pubtator:
2386899NM_005006.7(NDUFS1):c.1502G>A (p.Arg501Gln)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002739245; -12206997720206997720NC_000002.11:g.206997720C>T-NSep 17, 2021criteria provided, single submitter1
288. Pubmed:
Pubtator:
1917204NM_005006.7(NDUFS1):c.1483A>G (p.Ser495Gly)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002615428; -12206997739206997739NC_000002.11:g.206997739T>C-NApr 30, 2022criteria provided, single submitter1
289. Pubmed:
Pubtator:
210742NM_005006.7(NDUFS1):c.1423G>T (p.Val475Phe)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202not providedRCV000199002; 13912042822069977992069977992:g.206997799C>AClinGen:CA323546NApr 05, 2013criteria provided, single submitter1
290. Pubmed:
Pubtator:
2400785NM_005006.7(NDUFS1):c.1417A>G (p.Met473Val)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002789573; -12206997805206997805NC_000002.11:g.206997805T>C-NOct 12, 2022criteria provided, single submitter1
291. Pubmed:
Pubtator:
1477525NM_005006.7(NDUFS1):c.1415C>T (p.Pro472Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001939111; 14483387522206997807206997807206997807-NSep 24, 2021criteria provided, single submitter1
292. Pubmed:
Pubtator:
1445792NM_005006.7(NDUFS1):c.1412A>G (p.Lys471Arg)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002011355; 7721281422206997810206997810206997810-NOct 31, 2022criteria provided, single submitter1
293. Pubmed:
Pubtator:
1858394NM_005006.7(NDUFS1):c.1405G>A (p.Ala469Thr)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002462704; -12206997817206997817NC_000002.11:g.206997817C>T-NMay 26, 2022criteria provided, single submitter1
294. 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; 77710292722069978292069978292:g.206997829C>T-NAug 30, 2019no assertion criteria provided1
295. Pubmed:
Pubtator:
1967136NM_005006.7(NDUFS1):c.1380T>G (p.His460Gln)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002590329; -12207003221207003221NC_000002.11:g.207003221A>C-NJul 17, 2022criteria provided, single submitter1
296. Pubmed:
Pubtator:
2117255NM_005006.7(NDUFS1):c.1370C>T (p.Ser457Leu)4719NDUFS1Uncertain significanceMedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002933708|RCV003340566; -12207003231207003231NC_000002.11:g.207003231G>A-NAug 19, 2023criteria provided, multiple submitters, no conflicts2
297. Pubmed:
Pubtator:
1326410NM_005006.7(NDUFS1):c.1354C>A (p.Leu452Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001816287; 1405302932207003247207003247207003247-NOct 01, 2021criteria provided, single submitter1
298. Pubmed:
Pubtator:
1419340NM_005006.7(NDUFS1):c.1349A>G (p.Lys450Arg)4719NDUFS1Uncertain significanceMedGen:C3661900|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV001946137|RCV002561459; 7574264692207003252207003252207003252-NMay 03, 2022criteria provided, multiple submitters, no conflicts2
299. Pubmed:
Pubtator:
1445307NM_005006.7(NDUFS1):c.1346C>T (p.Pro449Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002025083; 7812498322207003255207003255207003255-NSep 01, 2022criteria provided, single submitter1
300. Pubmed:
Pubtator:
2316387NM_005006.7(NDUFS1):c.1336G>A (p.Gly446Arg)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002934553; -12207003265207003265NC_000002.11:g.207003265C>T-NNov 18, 2022criteria provided, single submitter1
301. Pubmed:
Pubtator:
1884387NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Inborn genetic diseases|not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV003078856|RCV003089786|RCV003134642; -12207003271207003271NC_000002.11:g.207003271G>A-NFeb 11, 2022criteria provided, multiple submitters, no conflicts3
302. Pubmed:
Pubtator:
1015962NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV001332550|RCV002546578; 7691670292207003280207003280207003280-NJun 12, 2022criteria provided, multiple submitters, no conflicts2
303. Pubmed:
Pubtator:
1424300NM_005006.7(NDUFS1):c.1299C>T (p.Gly433=)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002047656; 21059613512207003302207003302207003302-NAug 28, 2021criteria provided, single submitter1
304. 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; 7804282622070033102070033102:g.207003310G>A-NJan 13, 2018criteria provided, single submitter1
305. Pubmed:
Pubtator:
2459659NM_005006.7(NDUFS1):c.1275T>A (p.Asn425Lys)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003219582; -12207003326207003326-NFeb 16, 2023criteria provided, single submitter1
306. Pubmed:
Pubtator:
2009504NM_005006.7(NDUFS1):c.1250_1251delinsAG (p.Arg417Lys)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002701199; -12207006676207006677NC_000002.11:g.207006676_207006677delinsCT-NJan 11, 2022criteria provided, single submitter1
307. Pubmed: 25741868, 25326635
Pubtator: 25741868 25326635
552062NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609Mitochondrial complex I deficiencyRCV000680045; 112756722070066782070066782:g.207006678T>C-NSep 01, 2017criteria provided, single submitter1
308. Pubmed:
Pubtator:
790156NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986983; 75115078722070066922070066922:g.207006692G>A-NMay 28, 2019criteria provided, single submitter1
309. Pubmed:
Pubtator:
1019537NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Mitochondrial complex I deficiency, nuclear type 1RCV001335222; 15590551002207006727207006729207006726-NMar 20, 2018criteria provided, single submitter1
310. Pubmed:
Pubtator:
2775315NM_005006.7(NDUFS1):c.1194T>G (p.Asp398Glu)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003343237; -12207006733207006733-NJun 16, 2023criteria provided, single submitter1
311. Pubmed:
Pubtator:
1479729NM_005006.7(NDUFS1):c.1186G>A (p.Glu396Lys)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001888211; 1417248902207006741207006741207006741-NJun 28, 2022criteria provided, single submitter1
312. Pubmed:
Pubtator:
1471064NM_005006.7(NDUFS1):c.1171A>G (p.Ile391Val)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001931521; 7794391502207006756207006756207006756-NSep 15, 2022criteria provided, multiple submitters, no conflicts2
313. Pubmed:
Pubtator:
1352627NM_005006.7(NDUFS1):c.1164TAC[1] (p.Thr390del)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001870966; 21059670242207006758207006760207006757-NDec 07, 2021criteria provided, single submitter1
314. Pubmed:
Pubtator:
2304789NM_005006.7(NDUFS1):c.1154A>G (p.Tyr385Cys)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002906550; -12207006773207006773NC_000002.11:g.207006773T>C-NNov 07, 2022criteria provided, single submitter1
315. Pubmed:
Pubtator:
1429811NM_005006.7(NDUFS1):c.1151A>G (p.Asn384Ser)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001998651; 1471856912207006776207006776207006776-NAug 20, 2022criteria provided, single submitter1
316. Pubmed:
Pubtator:
1452434NM_005006.7(NDUFS1):c.1151A>T (p.Asn384Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002037388; 1471856912207006776207006776207006776-NAug 31, 2022criteria provided, single submitter1
317. Pubmed:
Pubtator:
2128584NM_005006.7(NDUFS1):c.1145G>A (p.Arg382His)4719NDUFS1Uncertain significanceMedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002953543|RCV002953542; -12207006782207006782NC_000002.11:g.207006782C>T-NJul 12, 2022criteria provided, multiple submitters, no conflicts2
318. Pubmed:
Pubtator:
2011216NM_005006.7(NDUFS1):c.1143G>T (p.Leu381Phe)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002681867; -12207006784207006784NC_000002.11:g.207006784C>A-NDec 27, 2021criteria provided, single submitter1
319. Pubmed:
Pubtator:
1975577NM_005006.7(NDUFS1):c.1098A>C (p.Leu366Phe)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002621459; -12207007445207007445NC_000002.11:g.207007445T>G-NAug 13, 2022criteria provided, single submitter1
320. Pubmed:
Pubtator:
1433850NM_005006.7(NDUFS1):c.1076A>G (p.Asn359Ser)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002024550; 12540599332207007467207007467207007467-NDec 03, 2021criteria provided, single submitter1
321. Pubmed:
Pubtator:
1337571NM_005006.7(NDUFS1):c.1071G>C (p.Leu357Phe)4719NDUFS1Uncertain significanceMedGen:C3661900|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV001923895|RCV002558435; 1997993422207007472207007472207007472-NOct 13, 2022criteria provided, multiple submitters, no conflicts2
322. Pubmed:
Pubtator:
273417NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:C3661900not providedRCV000396917; 13969069422070074822070074822:g.207007482A>TClinGen:CA2070576NAug 17, 2022criteria provided, multiple submitters, no conflicts2
323. Pubmed:
Pubtator:
1908780NM_005006.7(NDUFS1):c.1021A>G (p.Ile341Val)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002614921; -12207007522207007522NC_000002.11:g.207007522T>C-NAug 15, 2022criteria provided, single submitter1
324. Pubmed:
Pubtator:
2133302NM_005006.7(NDUFS1):c.1012G>A (p.Val338Met)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV003011124; -12207007531207007531NC_000002.11:g.207007531C>T-NMar 22, 2022criteria provided, single submitter1
325. Pubmed:
Pubtator:
2410654NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003131705; -12207007550207007550NC_000002.11:g.207007550C>A-NAug 03, 2021criteria provided, single submitter1
326. 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; 77423229922070087432070087432:g.207008743A>G-NJan 13, 2018criteria provided, single submitter1
327. Pubmed:
Pubtator:
2004344NM_005006.7(NDUFS1):c.983G>A (p.Gly328Glu)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002646632; -12207008746207008746NC_000002.11:g.207008746C>T-NMay 05, 2022criteria provided, single submitter1
328. Pubmed:
Pubtator:
1950967NM_005006.7(NDUFS1):c.976G>A (p.Val326Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV003116906; -12207008753207008753NC_000002.11:g.207008753C>T-NJul 30, 2022criteria provided, single submitter1
329. Pubmed:
Pubtator:
1297630NM_005006.7(NDUFS1):c.974G>A (p.Arg325His)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001763218; 7736328322207008755207008755207008755-NOct 13, 2022criteria provided, multiple submitters, no conflicts2
330. Pubmed:
Pubtator:
1296080NM_005006.7(NDUFS1):c.944C>T (p.Thr315Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001760549; 7495327802207008785207008785207008785-NJul 17, 2019criteria provided, single submitter1
331. Pubmed:
Pubtator:
210744NM_005006.7(NDUFS1):c.926A>G (p.Asn309Ser)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002961488; 7741683872207008803207008803NC_000002.11:g.207008803T>C-NOct 26, 2022criteria provided, single submitter1
332. Pubmed:
Pubtator:
404755NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C3661900Mitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000477869|RCV002489139|RCV003105917; 7566642622070088212070088212:g.207008821G>CClinGen:CA2070622NJan 30, 2023criteria provided, multiple submitters, no conflicts3
333. Pubmed:
Pubtator:
2038303NM_005006.7(NDUFS1):c.876T>G (p.Phe292Leu)4719NDUFS1Uncertain significanceMedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002766095|RCV002775230; -12207008853207008853NC_000002.11:g.207008853A>C-NSep 07, 2022criteria provided, multiple submitters, no conflicts2
334. Pubmed:
Pubtator:
2097540NM_005006.7(NDUFS1):c.872+6T>C4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002899601; -12207009610207009610NC_000002.11:g.207009610A>G-NJun 17, 2022criteria provided, single submitter1
335. Pubmed:
Pubtator:
1709111NM_005006.7(NDUFS1):c.841A>G (p.Ile281Val)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002291987; -12207009647207009647207009647-NOct 14, 2022criteria provided, single submitter1
336. Pubmed:
Pubtator:
1985686NM_005006.7(NDUFS1):c.831G>A (p.Met277Ile)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002632037; -12207009657207009657NC_000002.11:g.207009657C>T-NMay 21, 2022criteria provided, single submitter1
337. Pubmed:
Pubtator:
2005493NM_005006.7(NDUFS1):c.827G>A (p.Arg276His)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV002663089|RCV002671012; -12207009661207009661NC_000002.11:g.207009661C>T-NMay 04, 2022criteria provided, multiple submitters, no conflicts2
338. Pubmed:
Pubtator:
1019538NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123|MedGen:CN517202Mitochondrial complex I deficiency, nuclear type 1|Inborn genetic diseases|not providedRCV001335223|RCV002546721|RCV003325564; 1429418082207009662207009662207009662-NAug 31, 2023criteria provided, multiple submitters, no conflicts3
339. Pubmed:
Pubtator:
1979464NM_005006.7(NDUFS1):c.738-16C>T4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002634426; -12207009766207009766NC_000002.11:g.207009766G>A-NNov 01, 2022criteria provided, single submitter1
340. Pubmed:
Pubtator:
620738NM_005006.7(NDUFS1):c.737+1G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV000779295; 9357766762207011626207011626NC_000002.11:g.207011626C>T-NApr 28, 2017criteria provided, single submitter1
341. Pubmed:
Pubtator:
1897038NM_005006.7(NDUFS1):c.722G>A (p.Arg241Gln)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV003097512; -12207011642207011642NC_000002.11:g.207011642C>T-NJul 21, 2022criteria provided, single submitter1
342. Pubmed: 11349233
Pubtator: 11349233
29271NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000015300|RCV002513059; 19942222522070116432070116432:g.207011643G>AClinGen:CA123815,UniProtKB:P28331#VAR_019532,OMIM:157655.0003NMar 09, 2022criteria provided, multiple submitters, no conflicts3
343. Pubmed: 15824269
Pubtator: 15824269
29272NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)4719NDUFS1Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|Mitochondrial complex 1 deficiency, nuclear type 5|See casesRCV000015301|RCV002251906; 19942222622070116732070116732:g.207011673G>CClinGen:CA123816,OMIM:157655.0004NOct 31, 2019criteria provided, single submitter2
344. Pubmed:
Pubtator:
1408861NM_005006.7(NDUFS1):c.689C>T (p.Ala230Val)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002015697; 15759844502207011675207011675207011675-NAug 09, 2022criteria provided, single submitter1
345. Pubmed:
Pubtator:
790157NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Leigh syndromeRCV000986984; 157598445022070116752070116752:g.207011675G>T-NMay 28, 2019criteria provided, single submitter1
346. Pubmed:
Pubtator:
1345626NM_005006.7(NDUFS1):c.675C>G (p.Ile225Met)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001924919; 7793819162207011689207011689207011689-NDec 02, 2021criteria provided, single submitter1
347. Pubmed:
Pubtator:
1909644NM_005006.7(NDUFS1):c.632A>G (p.Glu211Gly)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002610686; -12207011732207011732NC_000002.11:g.207011732T>C-NAug 31, 2022criteria provided, single submitter1
348. Pubmed:
Pubtator:
1399183NM_005006.7(NDUFS1):c.592A>C (p.Thr198Pro)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001898257; 13099783702207011772207011772207011772-NDec 02, 2021criteria provided, single submitter1
349. Pubmed:
Pubtator:
1330073NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001823484; 21059740482207011778207011778207011778-N-criteria provided, single submitter1
350. Pubmed:
Pubtator:
2410653NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003132863; -12207011786207011786NC_000002.11:g.207011786T>C-NMay 12, 2021criteria provided, single submitter1
351. Pubmed:
Pubtator:
584518NM_005006.7(NDUFS1):c.560G>C (p.Ser187Thr)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV000728489; 7554780332207011804207011804NC_000002.11:g.207011804C>G-NJul 28, 2017criteria provided, single submitter1
352. 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; 145838262522070122552070122552:g.207012255C>G-N-no assertion criteria provided1
353. Pubmed:
Pubtator:
1709159NM_005006.7(NDUFS1):c.533A>G (p.Gln178Arg)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002292035; -12207012273207012273207012273-NApr 12, 2022criteria provided, single submitter1
354. Pubmed:
Pubtator:
210748NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226not provided|Mitochondrial complex 1 deficiency, nuclear type 5RCV000593838|RCV001249403; 14012618522070122772070122772:g.207012277T>CClinGen:CA321662NMay 30, 2023criteria provided, multiple submitters, no conflicts4
355. Pubmed:
Pubtator:
1710559NM_005006.7(NDUFS1):c.493A>G (p.Ile165Val)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002293855; -12207012313207012313207012313-NApr 15, 2022criteria provided, single submitter1
356. Pubmed:
Pubtator:
1015963NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001332554|RCV001365457; 7645205332207012330207012330207012330-NDec 02, 2021criteria provided, multiple submitters, no conflicts2
357. Pubmed:
Pubtator:
2523473NM_005006.7(NDUFS1):c.473G>A (p.Arg158His)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV003225487; -12207012333207012333-NNov 01, 2022criteria provided, single submitter1
358. Pubmed:
Pubtator:
1399197NM_005006.7(NDUFS1):c.457T>C (p.Phe153Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001884500; 7782466582207012349207012349207012349-NSep 13, 2022criteria provided, single submitter1
359. Pubmed:
Pubtator:
210749NM_005006.7(NDUFS1):c.421-6C>G4719NDUFS1Uncertain significanceCN169374 not specified; MedGen:CN517202not providedRCV000200797; 86322409522070123912070123912:g.207012391G>CClinGen:CA325380NAug 20, 2013criteria provided, single submitter1
360. Pubmed:
Pubtator:
2181833NM_005006.7(NDUFS1):c.408A>G (p.Glu136=)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV003047336; -12207012489207012489-NApr 15, 2022criteria provided, single submitter1
361. Pubmed:
Pubtator:
2795486NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV003389387; -12207012508207012508-N-criteria provided, single submitter1
362. Pubmed:
Pubtator:
883463NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141490|RCV001141489; 78023538622070125362070125362:g.207012536A>G-NJan 12, 2018criteria provided, single submitter1
363. Pubmed:
Pubtator:
2233326NM_005006.7(NDUFS1):c.350T>G (p.Met117Arg)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002737408; -12207012547207012547NC_000002.11:g.207012547A>C-NAug 12, 2021criteria provided, single submitter1
364. 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; 169226572222070137452070137452:g.207013745T>C-NJan 12, 2018criteria provided, single submitter1
365. Pubmed:
Pubtator:
1383040NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr)4719NDUFS1Uncertain significanceMedGen:C3661900|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MeSH:D030342,MedGen:C0950123not provided|Mitochondrial complex 1 deficiency, nuclear type 5|Inborn genetic diseasesRCV001921188|RCV002484506|RCV002557722; 7696164172207013757207013757207013757-NApr 29, 2022criteria provided, multiple submitters, no conflicts3
366. Pubmed:
Pubtator:
2074458NM_005006.7(NDUFS1):c.304A>G (p.Ile102Val)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002856292; -12207013778207013778NC_000002.11:g.207013778T>C-NJul 14, 2022criteria provided, single submitter1
367. Pubmed:
Pubtator:
1322355NM_005006.7(NDUFS1):c.289A>T (p.Met97Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001806979; 21059770002207013793207013793207013793-NJan 08, 2021criteria provided, single submitter1
368. Pubmed:
Pubtator:
1015964NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202Mitochondrial complex I deficiency, nuclear type 1|not providedRCV001332553|RCV001859297; 7636977792207013802207013802207013802-NAug 09, 2022criteria provided, multiple submitters, no conflicts2
369. Pubmed:
Pubtator:
887244NM_005006.7(NDUFS1):c.261+6T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001143328|RCV001143327; 74890657922070145362070145362:g.207014536A>G-NJan 12, 2018criteria provided, single submitter1
370. Pubmed:
Pubtator:
2008848NM_005006.7(NDUFS1):c.233G>A (p.Cys78Tyr)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002706211; -12207014570207014570NC_000002.11:g.207014570C>T-NApr 29, 2022criteria provided, single submitter1
371. Pubmed:
Pubtator:
2288651NM_005006.7(NDUFS1):c.209C>T (p.Ser70Phe)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002882991; -12207014594207014594NC_000002.11:g.207014594G>A-NJul 12, 2022criteria provided, single submitter1
372. Pubmed:
Pubtator:
210751NM_005006.7(NDUFS1):c.185G>A (p.Arg62Gln)4719NDUFS1Uncertain significanceCN517202 not provided; MedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV000197730|RCV002515414; 20103448122070146182070146182:g.207014618C>TClinGen:CA322194NAug 31, 2022criteria provided, multiple submitters, no conflicts3
373. Pubmed:
Pubtator:
1289372NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV001728123; 21059782202207014619207014619207014619-NMay 24, 2021criteria provided, single submitter1
374. Pubmed:
Pubtator:
1293188NM_005006.7(NDUFS1):c.177G>C (p.Gln59His)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001756407; 16923018162207014626207014626207014626-NJun 30, 2020criteria provided, single submitter1
375. Pubmed:
Pubtator:
2223844NM_005006.7(NDUFS1):c.169G>A (p.Gly57Ser)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002722950; -12207014634207014634NC_000002.11:g.207014634C>T-NJul 01, 2021criteria provided, single submitter1
376. Pubmed:
Pubtator:
1370321NM_005006.7(NDUFS1):c.154G>A (p.Ala52Thr)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001972965; 7598239162207014649207014649207014649-NJun 20, 2022criteria provided, single submitter1
377. Pubmed:
Pubtator:
1351419NM_005006.7(NDUFS1):c.153+6C>G4719NDUFS1Uncertain significanceMedGen:C3661900|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002021864|RCV002563604; 10514285002207017137207017137207017137-NJul 04, 2022criteria provided, multiple submitters, no conflicts2
378. Pubmed:
Pubtator:
2680231NM_005006.7(NDUFS1):c.145G>A (p.Val49Ile)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003259692; -12207017151207017151-NJun 05, 2023criteria provided, single submitter1
379. Pubmed:
Pubtator:
2021320NM_005006.7(NDUFS1):c.139A>G (p.Thr47Ala)4719NDUFS1Uncertain significanceMedGen:CN517202not providedRCV002745390; -12207017157207017157NC_000002.11:g.207017157T>C-NMay 27, 2022criteria provided, single submitter1
380. Pubmed:
Pubtator:
2379027NM_005006.7(NDUFS1):c.134C>T (p.Pro45Leu)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002749523; -12207017162207017162NC_000002.11:g.207017162G>A-NSep 14, 2021criteria provided, single submitter1
381. Pubmed:
Pubtator:
1863250NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226Mitochondrial complex 1 deficiency, nuclear type 5RCV002470524; -12207017162207017162NC_000002.11:g.207017162G>T-NAug 28, 2019criteria provided, single submitter1
382. Pubmed:
Pubtator:
2213699NM_005006.7(NDUFS1):c.127G>A (p.Val43Met)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002656764; -12207017169207017169NC_000002.11:g.207017169C>T-NSep 16, 2021criteria provided, single submitter1
383. Pubmed:
Pubtator:
2696938NM_005006.7(NDUFS1):c.109G>C (p.Asp37His)4719NDUFS1Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003241523; -12207017187207017187-NJun 01, 2023criteria provided, single submitter1
384. Pubmed:
Pubtator:
1512942NM_005006.7(NDUFS1):c.100G>C (p.Val34Leu)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001866855; 15590651882207017196207017196207017196-NMar 22, 2022criteria provided, single submitter1
385. Pubmed:
Pubtator:
2796332NM_005006.7(NDUFS1):c.86G>A (p.Ser29Asn)4719NDUFS1Uncertain significance-NDUFS1-related conditionRCV003402417; -12207017210207017210-NJan 27, 2023criteria provided, single submitter1
386. Pubmed:
Pubtator:
1448336NM_005006.7(NDUFS1):c.71C>T (p.Thr24Ile)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV001949024; 7643714662207017225207017225207017225-NAug 09, 2022criteria provided, single submitter1
387. Pubmed:
Pubtator:
883465NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)4719NDUFS1Uncertain significanceMONDO: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 providedRCV001143330|RCV001143329|RCV002557052; 77433288222070172262070172262:g.207017226T>C-NJul 12, 2022criteria provided, multiple submitters, no conflicts2
388. Pubmed:
Pubtator:
918730NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln)4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV001197062|RCV002559254; 76745728122070172312070172312:g.207017231C>T-NAug 09, 2022criteria provided, multiple submitters, no conflicts2
389. 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; 136751268822070183712070183712:g.207018371A>T-NApr 27, 2017criteria provided, single submitter1
390. Pubmed:
Pubtator:
1364704NM_005006.7(NDUFS1):c.1A>G (p.Met1Val)4719NDUFS1Uncertain significanceMedGen:C3661900not providedRCV002021960; 13594449862207018402207018402207018402-NDec 02, 2021criteria provided, single submitter1
391. Pubmed:
Pubtator:
788746NM_005006.7(NDUFS1):c.-5+236T>C4719NDUFS1Uncertain significanceMONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226|MedGen:C3661900Mitochondrial complex 1 deficiency, nuclear type 5|not providedRCV000985220|RCV001356090; 18450536422070238292070238292:g.207023829A>G-NMar 03, 2022criteria provided, single submitter3
392. Pubmed:
Pubtator:
883468NM_005006.7(NDUFS1):c.-31A>G4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001136759|RCV001136758; 168781817822070240912070240912:g.207024091T>C-NApr 27, 2017criteria provided, single submitter1
393. Pubmed:
Pubtator:
883469NM_005006.7(NDUFS1):c.-38T>G4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001136761|RCV001136760; 155907100822070240982070240982:g.207024098A>C-NJan 13, 2018criteria provided, single submitter1
394. 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; 36776215022070241212070241212:g.207024121C>G-NJan 13, 2018criteria provided, single submitter1
395. 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; 36764936922070241332070241332:g.207024133G>T-NJan 12, 2018criteria provided, single submitter1
396. Pubmed:
Pubtator:
883475NM_005006.7(NDUFS1):c.-101G>A4719NDUFS1Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001141609|RCV001141608; 98375797622070241612070241612:g.207024161C>T-NJan 13, 2018criteria provided, single submitter1
397. Pubmed:
Pubtator:
883476NM_005006.6(NDUFS1):c.-149T>G4719NDUFS1Uncertain 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; 57296596022070242092070242092:g.207024209A>C-NJan 12, 2018criteria provided, single submitter1



Candidate disease, gene and variant associations from pubmed:



Other disease, gene and variant associations from pubmed: