1. MSeqDR: NDUFS3 Portal  LSDB  Exome 
External: OMIM  NCBI E ENSG00000213619 GeneCard  GTR  HGNC 
    Protein & RNA:  Uniprot  HPA  GXA  GTEx  DC

Variants: MSeqDR MD-related 18(16) LSDB, HGMD: 3, ClinVar: 58 (P/LP:6; Uncertain:22; With_conflicts:8), Leigh Syndrome related

Pubmed: 4 (literature mined), Leigh + NDUFS3 , Mitochondrial + NDUFS3 (search Title/Abstract)

Gene region 11:47586888..47606114

HGNC Gene: NDUFS3, NADH:ubiquinone oxidoreductase core subunit S3; Alias_symbol: CI-30; Previous_Symbols: ; ensembl_gene_id; ENSG00000213619; Refseq accession: NM_004551; OMIM ID: 603846; CCDS_ids: CCDS7941; VEGA_ids: OTTHUMG00000166893; uniprot_ids: O75489

Mitochondrial Diseases from MSeqDR, Mondo, OMIM, CTDBase:
 -  Disease Portal: 252010 ,618230


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

  - Animal models for this disease (not necessarily for this gene):
  -- MGI:2387326 Aifm1 [B6CBACa A/A-Aifm1/J], evidence: author statement supported by traceable reference used in manual assertion PMID:18791645;;
  -- MGI:2387325 Aifm1/Aifm1 [B6CBACa A/A-Aifm1/J], evidence: author statement supported by traceable reference used in manual assertion PMID:18791645;;
  -- WormBase:WBGene00015810 C16A3.5, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00009992 F53F4.10, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00001520 gas-1, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00010721 K09E4.3, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00003061 lpd-5, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00010847 M04B2.4, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00006463 nduf-2.2, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00009051 nduf-6, evidence: evidence used in automatic assertion PMID:19029536;;
  -- MGI:6187936 Ndufa1/Ndufa1 [involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac], evidence: author statement supported by traceable reference used in manual assertion PMID:28506826;;
  -- MGI:5464901 Ndufs4/Ndufs4<+> [involves: 129S6/SvEvTac * C57BL/6NTac], evidence: author statement supported by traceable reference used in manual assertion PMID:19460290;;
  -- MGI:5428952 Ndufs6/Ndufs6 [involves: 129P2/OlaHsd * C57BL/6], evidence: author statement supported by traceable reference used in manual assertion PMID:22474353;;
  -- Coriell:GM24529 NIGMS-GM24529, evidence: ;;
  -- WormBase:WBGene00008225 nuaf-1, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00011123 nuaf-3, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00003831 nuo-1, evidence: evidence used in automatic assertion|mutant phenotype evidence PMID:19029536|WormBase:WBPaper00006301;;
  -- WormBase:WBGene00020417 nuo-2, evidence: evidence used in automatic assertion PMID:19029536;;
  -- WormBase:WBGene00021562 nuo-5, evidence: evidence used in automatic assertion PMID:19029536
All OMIM Disease:
OMIM 252010; MeSH: C1838979, Mitochondrial complex I deficiency, 252010;;
OMIM 256000; MeSH: C0023264, Leigh syndrome, 256000; LS
 

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_000029511:g.47603692C>T000000002309697NDUFS3PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8MedGen:CN257503, OMIM:618230114760369247603692CTsubstrs28939714NM_004551.2:exon 5/711:g.47603692C>TMode_of_inheritancegermline21058;
2._MSCV_000029611:g.47603988C>T000000002309698NDUFS3PathogenicMITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8MedGen:CN257503, OMIM:618230114760398847603988CTsubstrs104894270NM_004551.2:exon 6/711:g.47603988C>TMode_of_inheritancegermline21059;
3._MSCV_001645011:g.47603989G>A000000002315280NDUFS3Likely pathogenicMitochondrial complex I deficiencyMedGen:C2936907, Orphanet:ORPHA2609114760398947603989GA11:g.47603989G>AMode_of_inheritanceinherited513602;
4._MSCV_001644111:g.47600832C>T000000002315273NDUFS3Conflicting interpretations of pathogenicityLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;114760083247600832CT11:g.47600832C>TMode_of_inheritancegermline211536;
5._MSCV_001644211:g.47600844T>C000000002315274NDUFS3Conflicting interpretations of pathogenicityLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;114760084447600844TC11:g.47600844T>CMode_of_inheritancegermline328025;
6._MSCV_001645111:g.47605859C>T000000002315281NDUFS3Conflicting interpretations of pathogenicityLeigh syndrome;Mitochondrial complex I deficiency;not specifiedMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;114760585947605859CT11:g.47605859C>TMode_of_inheritancegermline142194;
7._MSCV_001643911:g.47600603T>C000000002315271NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760060347600603TC11:g.47600603T>CMode_of_inheritancegermline314314;
8._MSCV_001644011:g.47600614C>T000000002315272NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760061447600614CT11:g.47600614C>TMode_of_inheritancegermline314316;
9._MSCV_001644311:g.47602133T>C000000002315275NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760213347602133TC11:g.47602133T>CMode_of_inheritancegermline314319;
10._MSCV_001644411:g.47602147C>G000000002315276NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760214747602147CG11:g.47602147C>GMode_of_inheritancepaternal275552;
11._MSCV_001644511:g.47602541G>T000000002315277NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760254147602541GT11:g.47602541G>TMode_of_inheritancegermline320898;
12._MSCV_001644611:g.47602542T>C000000002315278NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760254247602542TC11:g.47602542T>CMode_of_inheritancegermline320904;
13._MSCV_001644811:g.47603733G>C000000002315279NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760373347603733GC11:g.47603733G>CMode_of_inheritancegermline211538;
14._MSCV_001645211:g.47605895G>A000000002315282NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760589547605895GA11:g.47605895G>AMode_of_inheritancegermline326970;
15._MSCV_001645311:g.47605991T>G000000002315283NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760599147605991TG11:g.47605991T>GMode_of_inheritancegermline328026;
16._MSCV_001645411:g.47606021T>C000000002315284NDUFS3Uncertain significanceLeigh syndrome;Mitochondrial complex I deficiencyMedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609114760602147606021TC11:g.47606021T>CMode_of_inheritancegermline320906;



Candidate disease, gene and variant associations from ClinVar:

PUBMEDAlleleIDVariation_NameGeneIDGeneSymbolClinicalSignificanceDisease_ClinVarPhenotypeIDsPhenotypeListRCVaccessiondbSNPChromosomeStartStopHGVS_gHGVS_cHGVS_pOtherIDsTestedInGTRLastEvaluatedReviewStatusNumberSubmitters
1. Pubmed: 25741868, 14729820
Pubtator: 25741868 14729820
21058NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)4722NDUFS3Likely pathogenicC1838951 Leigh syndrome due to mitochondrial complex I deficiency; MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV000006390; rs2893971411476036924760369211:g.47603692C>TCTClinGen:CA117915,OMIM:603846.0001NJan 23, 2019criteria provided, single submitter2
2. Pubmed: 30140060, 25741868, 22499348, 14729820
Pubtator: 30140060 25741868 22499348 14729820
21059NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)4722NDUFS3Likely pathogenicC1838951 Leigh syndrome due to mitochondrial complex I deficiency; MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV000006391; rs10489427011476039884760398811:g.47603988C>TCTClinGen:CA117917,OMIM:603846.0002NJan 23, 2019criteria provided, single submitter2
3. Pubmed:
Pubtator:
328025NM_004551.3(NDUFS3):c.91T>C (p.Leu31=)4722NDUFS3Conflicting interpretations of pathogenicityC0023264 256000 Leigh syndrome; MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN169374Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not specifiedRCV000301677|RCV000358793|RCV000616791; rs77030661711476008444760084411:g.47600844T>CTCClinGen:CA5977804NJan 13, 2018criteria provided, conflicting interpretations2
4. Pubmed:
Pubtator:
314316NM_004551.2(NDUFS3):c.-30C>T4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000308294|RCV000392871; rs37548388411476006144760061411:g.47600614C>TCTClinGen:CA5977757NJun 14, 2016criteria provided, single submitter1
5. Pubmed:
Pubtator:
314319NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His)4722NDUFS3Uncertain 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 1RCV000261687|RCV000300392; rs88604839111476021334760213311:g.47602133T>CTCClinGen:CA10631038NJan 13, 2018criteria provided, single submitter1
6. Pubmed: 25741868
Pubtator: 25741868
275552NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met)4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency;Leigh syndromeRCV000293525; rs88604476511476021474760214711:g.47602147C>GCGClinGen:CA10607103NNov 21, 2016criteria provided, single submitter1
7. Pubmed:
Pubtator:
320898NM_004551.3(NDUFS3):c.381+5G>T4722NDUFS3Uncertain 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 syndromeRCV000261462|RCV000352949; rs88604839211476025414760254111:g.47602541G>TGTClinGen:CA10635057NJan 13, 2018criteria provided, single submitter1
8. Pubmed:
Pubtator:
320904NM_004551.3(NDUFS3):c.381+6T>C4722NDUFS3Uncertain 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 1RCV000332963|RCV000389911; rs37757923111476025424760254211:g.47602542T>CTCClinGen:CA5977940NJan 12, 2018criteria provided, single submitter1
9. Pubmed:
Pubtator:
211535NM_004551.3(NDUFS3):c.2T>G (p.Met1Arg)4722NDUFS3PathogenicMedGen:CN517202not providedRCV000196482; rs86322410611476006454760064511:g.47600645T>GTGClinGen:CA320898NJan 31, 2013criteria provided, single submitter1
10. Pubmed:
Pubtator:
211539NM_004551.3(NDUFS3):c.568_569del (p.Asp190fs)4722NDUFS3PathogenicMedGen:CN517202not providedRCV000200329; rs86322410711476039604760396111:g.47603960_47603961delCAGCClinGen:CA324884NMay 02, 2012criteria provided, single submitter1
11. Pubmed: 25741868
Pubtator: 25741868
408382NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)4722NDUFS3Likely pathogenicCN517202 not provided; MedGen:CN517202|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609not provided|Mitochondrial complex I deficiencyRCV000479127|RCV000853270; rs13886788211476025294760252911:g.47602529G>AGAClinGen:CA5977938NJan 18, 2018criteria provided, multiple submitters, no conflicts2
12. Pubmed:
Pubtator:
415277NM_004551.3(NDUFS3):c.424C>T (p.Arg142Cys)4722NDUFS3Likely pathogenicMedGen:CN517202not providedRCV000489564; rs14640717811476036824760368211:g.47603682C>TCTClinGen:CA5977986NJun 04, 2015criteria provided, single submitter1
13. Pubmed:
Pubtator:
211536NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)4722NDUFS3Conflicting interpretations of pathogenicityMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000197472|RCV000342182|RCV000403906; rs36890718711476008324760083211:g.47600832C>TCTClinGen:CA321939NJan 13, 2018criteria provided, conflicting interpretations2
14. Pubmed:
Pubtator:
211537NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)4722NDUFS3Conflicting interpretations of pathogenicityMedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000200026|RCV001105706|RCV001105707; rs14118741211476008764760087611:g.47600876C>TCTClinGen:CA324576NJan 13, 2018criteria provided, conflicting interpretations2
15. Pubmed: 28492532
Pubtator: 28492532
211538NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)4722NDUFS3Conflicting interpretations of pathogenicityMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000274500|RCV000331648|RCV000884571; rs14833118011476037334760373311:g.47603733G>CGCClinGen:CA320767NDec 31, 2019criteria provided, conflicting interpretations2
16. Pubmed: 28492532
Pubtator: 28492532
142193NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)4722NDUFS3Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|not provided|Mitochondrial complex 1 deficiency, nuclear type 8|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000127155|RCV000969794|RCV001000472|RCV001107482|RCV001107483; rs7711349411476039844760398411:g.47603984T>CTCClinGen:CA292502NDec 31, 2019criteria provided, conflicting interpretations4
17. Pubmed: 28492532
Pubtator: 28492532
142194NM_004551.3(NDUFS3):c.628-7C>T4722NDUFS3Conflicting interpretations of pathogenicityMedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN517202not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not providedRCV000127156|RCV000292090|RCV000383892|RCV000964320; rs1103930611476058594760585911:g.47605859C>TCTClinGen:CA292504NDec 31, 2019criteria provided, conflicting interpretations4
18. Pubmed:
Pubtator:
503671NM_004551.3(NDUFS3):c.747G>A (p.Pro249=)4722NDUFS3Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000614898|RCV001103853|RCV001103854; rs374065411476059854760598511:g.47605985G>AGAClinGen:CA5978089NJan 13, 2018criteria provided, conflicting interpretations2
19. Pubmed: 28492532
Pubtator: 28492532
320906NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)4722NDUFS3Conflicting 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 providedRCV000284678|RCV000406732|RCV000939941; rs11798165511476060214760602111:g.47606021T>CTCClinGen:CA5978099NAug 08, 2018criteria provided, conflicting interpretations2
20. Pubmed: 28492532
Pubtator: 28492532
752699NM_004551.3(NDUFS3):c.21C>T (p.Ala7=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000926088; rs36975134511476006644760066411:g.47600664C>TCT-NJun 05, 2018criteria provided, single submitter1
21. Pubmed: 28492532
Pubtator: 28492532
738018NM_004551.3(NDUFS3):c.65G>A (p.Arg22Lys)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000904288; rs75275253411476007084760070811:g.47600708G>AGA-NJun 23, 2018criteria provided, single submitter1
22. Pubmed: 28492532
Pubtator: 28492532
609788NM_004551.3(NDUFS3):c.99G>T (p.Pro33=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000757549; rs14822691711476008524760085211:g.47600852G>TGT-NDec 31, 2019criteria provided, multiple submitters, no conflicts2
23. Pubmed:
Pubtator:
503297NM_004551.3(NDUFS3):c.134-17A>C4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000614835; rs56140727111476020604760206011:g.47602060A>CACClinGen:CA5977850NJan 25, 2018criteria provided, single submitter1
24. Pubmed: 28492532
Pubtator: 28492532
724473NM_004551.3(NDUFS3):c.561C>T (p.Ile187=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000891836; rs76051046311476039544760395411:g.47603954C>TCT-NSep 22, 2017criteria provided, single submitter1
25. Pubmed:
Pubtator:
503670NM_004551.3(NDUFS3):c.628-23_628-7dup4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000600280; rs130267574511476058374760583811:g.47605837_47605838insTGCTCAAGCCTGCCTTTGGTGCTCAAGCCTGCCTTTClinGen:CA599375364NAug 21, 2017criteria provided, single submitter1
26. Pubmed:
Pubtator:
503864NM_004551.3(NDUFS3):c.654G>T (p.Arg218=)4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000615106; rs75787075811476058924760589211:g.47605892G>TGTClinGen:CA474220907NJul 24, 2017criteria provided, single submitter1
27. Pubmed: 28492532
Pubtator: 28492532
503873NM_004551.3(NDUFS3):c.669G>A (p.Pro223=)4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000601249|RCV000894611; rs37079996611476059074760590711:g.47605907G>AGAClinGen:CA5978071NJun 29, 2018criteria provided, multiple submitters, no conflicts2
28. Pubmed: 28492532
Pubtator: 28492532
738019NM_004551.3(NDUFS3):c.768C>T (p.Ala256=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000907453; rs54443978811476060064760600611:g.47606006C>TCT-NJul 21, 2018criteria provided, single submitter1
29. Pubmed:
Pubtator:
665750NM_018095.6(KBTBD4):c.19+133T>C4722NDUFS3BenignMedGen:CN517202not providedRCV000843220; rs445013611476003524760035211:g.47600352A>GAG-NJun 14, 2018criteria provided, single submitter1
30. Pubmed:
Pubtator:
665075NM_004551.3(NDUFS3):c.381+193C>T4722NDUFS3BenignMedGen:CN517202not providedRCV000844532; rs203016611476027294760272911:g.47602729C>TCT-NJun 14, 2018criteria provided, single submitter1
31. Pubmed:
Pubtator:
314314NM_004551.2(NDUFS3):c.-41T>C4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000290487|RCV000347926; rs75096578911476006034760060311:g.47600603T>CTCClinGen:CA5977754NJun 14, 2016criteria provided, single submitter1
32. Pubmed:
Pubtator:
868113NM_004551.3(NDUFS3):c.-15C>G4722NDUFS3Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001103764|RCV001103765; -111476006294760062911:g.47600629C>GCG-NJan 13, 2018criteria provided, single submitter1
33. Pubmed:
Pubtator:
868114NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys)4722NDUFS3Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001103766|RCV001103767; -111476006774760067711:g.47600677C>TCT-NJan 13, 2018criteria provided, single submitter1
34. Pubmed:
Pubtator:
444833NM_004551.3(NDUFS3):c.127A>G (p.Thr43Ala)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000522121; rs155519844611476008804760088011:g.47600880A>GAGClinGen:CA380356877NJun 28, 2017criteria provided, single submitter1
35. Pubmed: 28031252, 25978847, 22499348, 22114105, 20818383, 19336460, 19167255, 14729820, 8602753
Pubtator: 28031252 25978847 22499348 22114105 20818383 19336460 19167255 14729820 8602753
511916NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln)4722NDUFS3Uncertain significanceC0950123 Inborn genetic diseases; MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Inborn genetic diseases|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000623097|RCV001105708|RCV001105709; rs155519875911476020924760209211:g.47602092G>AGAClinGen:CA380357590NJan 12, 2018criteria provided, multiple submitters, no conflicts2
36. Pubmed:
Pubtator:
620833NM_004551.3(NDUFS3):c.232-1G>A4722NDUFS3Uncertain significance-NDUFS3-Related DisordersRCV000778328; rs156594198111476023864760238611:g.47602386G>AGA-NDec 10, 2018criteria provided, single submitter1
37. Pubmed: 28031252, 25978847, 22499348, 22114105, 20818383, 19336460, 19167255, 14729820, 8602753
Pubtator: 28031252 25978847 22499348 22114105 20818383 19336460 19167255 14729820 8602753
511917NM_004551.3(NDUFS3):c.269C>T (p.Pro90Leu)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV000624385; rs155519883511476024244760242411:g.47602424C>TCTClinGen:CA380358427NJul 12, 2017criteria provided, single submitter1
38. Pubmed:
Pubtator:
549978NM_004551.3(NDUFS3):c.401C>G (p.Ser134Cys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000677082; rs75499599011476036594760365911:g.47603659C>GCG-NFeb 29, 2016no assertion criteria provided1
39. Pubmed: 30140060, 25741868
Pubtator: 30140060 25741868
626077NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp)4722NDUFS3Uncertain significanceMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV000790863; rs14224867411476036764760367611:g.47603676C>TCT-NJan 23, 2019criteria provided, single submitter1
40. Pubmed:
Pubtator:
868115NM_004551.3(NDUFS3):c.425G>A (p.Arg142His)4722NDUFS3Uncertain significanceMONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV001106824|RCV001106825; -111476036834760368311:g.47603683G>AGA-NApr 27, 2017criteria provided, single submitter1
41. Pubmed: 25741868
Pubtator: 25741868
513602NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)4722NDUFS3Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0009640,MedGen:C1838979, Orphanet:2609Mitochondrial complex I deficiencyRCV000626206; rs77178383911476039894760398911:g.47603989G>AGAClinGen:CA5978034NMay 03, 2020criteria provided, single submitter1
42. Pubmed:
Pubtator:
326970NM_004551.3(NDUFS3):c.657G>A (p.Val219=)4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000325919|RCV000382544; rs37732376011476058954760589511:g.47605895G>AGAClinGen:CA5978068NJan 13, 2018criteria provided, single submitter1
43. Pubmed:
Pubtator:
425933NM_004551.3(NDUFS3):c.694A>C (p.Lys232Gln)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000498968; rs132131054311476059324760593211:g.47605932A>CACClinGen:CA380362758NMay 31, 2017criteria provided, single submitter1
44. Pubmed:
Pubtator:
868116NM_004551.3(NDUFS3):c.737G>A (p.Arg246His)4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001107484|RCV001107485; -111476059754760597511:g.47605975G>AGA-NJan 13, 2018criteria provided, single submitter1
45. Pubmed:
Pubtator:
328026NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV000285816|RCV000342978; rs75231490211476059914760599111:g.47605991T>GTGClinGen:CA5978093NJan 12, 2018criteria provided, single submitter1
46. Pubmed:
Pubtator:
868117NM_004551.3(NDUFS3):c.*32G>A4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001103855|RCV001103856; -111476060654760606511:g.47606065G>AGA-NJan 12, 2018criteria provided, single submitter1
47. Pubmed:
Pubtator:
868118NM_004551.3(NDUFS3):c.*39C>T4722NDUFS3Uncertain significanceMONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1RCV001105800|RCV001105801; -111476060724760607211:g.47606072C>TCT-NJan 13, 2018criteria provided, single submitter1



Candidate disease, gene and variant associations from pubmed:

pmidGeneGeneIDMeshIDDiseasesDisease_mention_and_paperComponentsMentionsResourceClinVarHGMDrsidhgvsghgvschgvspgene
1._30140060 PubtatorNDUFS34722D007888Paper: A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
Mentions: Leigh syndrome
rs104894270p.R199WtmVar6020CM040095rs104894270 11:g.47603988C>TENST00000263774.4:c.595C>TENSP00000263774.4:p.Arg199TrpNDUFS3;
2._25419155 PubtatorNDUFS34722C563530Paper: The genetics of Leigh syndrome and its implications for clinical practice and risk management.
Mentions: familial adult Leigh syndrome;; Paper: The genetics of Leigh syndrome and its implications for clinical practice and risk management.
Mentions: Leigh's disease|SURF1-deficient Leigh syndrome|Leigh et leucodystrophie par deficit|Leigh's syndrome|Leigh syndrome|Leigh Syndrome|Leigh disease|late-onset Leigh syndrome|I-deficient Leigh syndrome|necrotizing encephalomyelopathy|Leigh overlap syndrome|L
g.13513G>AG13513AtmVar0 ;
3._19542079 PubtatorNDUFS34722D007888Paper: Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Mentions: Leigh disease|Leigh's syndrome|Leigh syndrome
g.8993T>GT8993GtmVar0 ;



Other disease, gene and variant associations from pubmed: