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 34(32) LSDB, HGMD: , ClinVar: 147 (P/LP:8; Uncertain:79; With_conflicts:9), Leigh Syndrome related

Pubmed: 28 (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;; is causal germline mutation in MONDO:0016815 Leigh syndrome with leukodystrophy, evidence: imported manually asserted information used in automatic assertion direct
  - 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)4722NDUFS3Pathogenic/Likely pathogenicC1838951 Leigh syndrome due to mitochondrial complex I deficiency; MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|Human Phenotype Ontology:HP:0012758,MedGen:C4022738Mitochondrial complex 1 deficiency, nuclear type 8|Neurodevelopmental delayRCV000006390|RCV002273921; 2893971411476036924760369211:g.47603692C>TClinGen:CA117915,OMIM:603846.0001NJan 23, 2019criteria provided, multiple submitters, no conflicts3
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; 10489427011476039884760398811:g.47603988C>TClinGen: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; 77030661711476008444760084411:g.47600844T>CClinGen:CA5977804NJan 13, 2018criteria provided, conflicting interpretations2
4. Pubmed: 28492532
Pubtator: 28492532
211538NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)4722NDUFS3Conflicting interpretations of pathogenicityC0023264 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 providedRCV000274500|RCV000331648|RCV000884571; 148331180114760373347603733NC_000011.9:g.47603733G>CClinGen:CA320767NSep 01, 2023criteria provided, conflicting interpretations5
5. Pubmed: 28492532
Pubtator: 28492532
142194NM_004551.3(NDUFS3):c.628-7C>T4722NDUFS3Conflicting 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:0032613,MedGen:C4748766,OMIM:618230not specified|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Mitochondrial complex 1 deficiency, nuclear type 8RCV000127156|RCV000292090|RCV000383892|RCV000964320|RCV003114278; 11039306114760585947605859NC_000011.9:g.47605859C>TClinGen:CA292504NSep 21, 2022criteria provided, conflicting interpretations5
6. Pubmed:
Pubtator:
326970NM_004551.3(NDUFS3):c.657G>A (p.Val219=)4722NDUFS3Conflicting interpretations of pathogenicityC0023264 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 providedRCV000325919|RCV000382544|RCV002056209; 377323760114760589547605895NC_000011.9:g.47605895G>AClinGen:CA5978068NOct 05, 2022criteria provided, conflicting interpretations2
7. Pubmed: 28492532
Pubtator: 28492532
320906NM_004551.3(NDUFS3):c.783T>C (p.Pro261=)4722NDUFS3Conflicting interpretations of pathogenicityC0023264 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 providedRCV000284678|RCV000406732|RCV000939941; 117981655114760602147606021NC_000011.9:g.47606021T>CClinGen:CA5978099NOct 19, 2022criteria provided, conflicting interpretations3
8. Pubmed:
Pubtator:
314314NM_004551.2(NDUFS3):c.-41T>C4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609Leigh syndrome|Mitochondrial complex I deficiencyRCV000290487|RCV000347926; 750965789114760060347600603NC_000011.9:g.47600603T>CClinGen:CA5977754NJun 14, 2016criteria provided, single submitter1
9. Pubmed:
Pubtator:
314316NM_004551.2(NDUFS3):c.-30C>T4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Mitochondrial complex I deficiency|Leigh syndromeRCV000308294|RCV000392871; 37548388411476006144760061411:g.47600614C>TClinGen:CA5977757NJun 14, 2016criteria provided, single submitter1
10. Pubmed:
Pubtator:
211536NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser)4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:C3661900|MeSH:D030342,MedGen:C0950123Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|not provided|Inborn genetic diseasesRCV000342182|RCV000403906|RCV002517241|RCV002515416; 368907187114760083247600832NC_000011.9:g.47600832C>TClinGen:CA321939NApr 14, 2023criteria provided, multiple submitters, no conflicts4
11. 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; 88604839111476021334760213311:g.47602133T>CClinGen:CA10631038NJan 13, 2018criteria provided, single submitter1
12. Pubmed: 25741868
Pubtator: 25741868
275552NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met)4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609Leigh syndrome;Mitochondrial complex I deficiencyRCV000293525; 88604476511476021474760214711:g.47602147C>GClinGen:CA10607103NNov 21, 2016criteria provided, single submitter1
13. 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; 88604839211476025414760254111:g.47602541G>TClinGen:CA10635057NJan 13, 2018criteria provided, single submitter1
14. 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:252010|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 8|not providedRCV000332963|RCV000389911|RCV001374465|RCV001859811; 37757923111476025424760254211:g.47602542T>CClinGen:CA5977940,OMIM:603846.0004NJan 23, 2022criteria provided, multiple submitters, no conflicts4
15. Pubmed:
Pubtator:
328026NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg)4722NDUFS3Uncertain significanceC0023264 256000 Leigh syndrome; MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MeSH:D030342,MedGen:C0950123Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Inborn genetic diseasesRCV000285816|RCV000342978|RCV002520728; 752314902114760599147605991NC_000011.9:g.47605991T>GClinGen:CA5978093NAug 02, 2021criteria provided, multiple submitters, no conflicts2
16. Pubmed:
Pubtator:
2247495NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)4722NDUFS3PathogenicMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002788118; -1114760068747600688NC_000011.9:g.47600692dup-NDec 07, 2021criteria provided, single submitter1
17. Pubmed:
Pubtator:
1692504NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs)4722NDUFS3PathogenicHuman Phenotype Ontology:HP:0012758,MedGen:C4022738Neurodevelopmental delayRCV002274357; 215379538911476037284760372947603727-N-criteria provided, single submitter1
18. Pubmed:
Pubtator:
211539NM_004551.3(NDUFS3):c.568_569del (p.Asp190fs)4722NDUFS3PathogenicCN517202 not provided; MedGen:CN517202not providedRCV000200329; 863224107114760396047603961NC_000011.9:g.47603961_47603962delClinGen:CA324884NMay 02, 2012criteria provided, single submitter1
19. Pubmed:
Pubtator:
211535NM_004551.3(NDUFS3):c.2T>G (p.Met1Arg)4722NDUFS3Likely pathogenicMedGen:CN517202not providedRCV000196482; 863224106114760064547600645NC_000011.9:g.47600645T>GClinGen:CA320898NJul 18, 2019criteria provided, single submitter1
20. Pubmed:
Pubtator:
2219306NM_004551.3(NDUFS3):c.3G>C (p.Met1Ile)4722NDUFS3Likely pathogenicMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002712332; -1114760064647600646NC_000011.9:g.47600646G>C-NDec 31, 2020criteria provided, single submitter1
21. Pubmed:
Pubtator:
2404922NM_004551.3(NDUFS3):c.382-1del4722NDUFS3Likely pathogenicMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV003140471; -1114760363947603639NC_000011.9:g.47603639del-NSep 16, 2022criteria provided, single submitter1
22. Pubmed:
Pubtator:
211537NM_004551.3(NDUFS3):c.123C>T (p.Ala41=)4722NDUFS3Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506|MedGen:CN517202not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000200026|RCV001105706|RCV001105707|RCV002515417; 141187412114760087647600876NC_000011.9:g.47600876C>TClinGen:CA324576NSep 30, 2022criteria provided, conflicting interpretations3
23. Pubmed: 25741868
Pubtator: 25741868
408382NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)4722NDUFS3Conflicting interpretations of pathogenicityCN517202 not provided; MedGen:CN517202|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230not provided|Mitochondrial complex I deficiency|Mitochondrial complex 1 deficiency, nuclear type 8RCV000479127|RCV000853270|RCV001823140; 13886788211476025294760252911:g.47602529G>AClinGen:CA5977938NJun 09, 2022criteria provided, conflicting interpretations4
24. Pubmed: 28492532
Pubtator: 28492532
142193NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)4722NDUFS3Conflicting interpretations of pathogenicityCN169374 not specified; MedGen:CN169374|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506not specified|Mitochondrial complex 1 deficiency, nuclear type 8|not provided|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000127155|RCV001000472|RCV000969794|RCV001107482|RCV001107483; 7711349411476039844760398411:g.47603984T>CClinGen:CA292502NMay 01, 2023criteria provided, conflicting interpretations7
25. 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:506|MedGen:C3661900not specified|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome|not providedRCV000614898|RCV001103853|RCV001103854|RCV002531615; 374065411476059854760598511:g.47605985G>AClinGen:CA5978089NJan 17, 2022criteria provided, conflicting interpretations3
26. Pubmed: 28492532
Pubtator: 28492532
752699NM_004551.3(NDUFS3):c.21C>T (p.Ala7=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV000926088; 36975134511476006644760066411:g.47600664C>T-NJul 12, 2022criteria provided, single submitter1
27. Pubmed:
Pubtator:
2476490NM_004551.3(NDUFS3):c.39G>T (p.Gly13=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV003222722; -1114760068247600682-NMar 01, 2023criteria provided, single submitter1
28. Pubmed: 28492532
Pubtator: 28492532
738018NM_004551.3(NDUFS3):c.65G>A (p.Arg22Lys)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000904288; 75275253411476007084760070811:g.47600708G>A-NOct 20, 2022criteria provided, single submitter1
29. Pubmed:
Pubtator:
1585646NM_004551.3(NDUFS3):c.68-5T>C4722NDUFS3Likely benignMedGen:C3661900not providedRCV002155569; 75612970911476008164760081647600816-NDec 03, 2021criteria provided, single submitter1
30. Pubmed:
Pubtator:
1960840NM_004551.3(NDUFS3):c.81C>T (p.Pro27=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV002576983; -1114760083447600834-NJul 30, 2022criteria provided, single submitter1
31. Pubmed: 28492532
Pubtator: 28492532
609788NM_004551.3(NDUFS3):c.99G>T (p.Pro33=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV000757549; 148226917114760085247600852NC_000011.9:g.47600852G>T-NOct 17, 2022criteria provided, multiple submitters, no conflicts2
32. Pubmed:
Pubtator:
1956814NM_004551.3(NDUFS3):c.133+12C>T4722NDUFS3Likely benignMedGen:CN517202not providedRCV002570958; -1114760089847600898NC_000011.9:g.47600898C>T-NAug 23, 2022criteria provided, single submitter1
33. Pubmed:
Pubtator:
1191236NM_004551.3(NDUFS3):c.133+176T>C4722NDUFS3Likely benignMedGen:C3661900not providedRCV001568166; 223335211476010624760106247601062-NJul 15, 2018criteria provided, single submitter1
34. Pubmed:
Pubtator:
1191237NM_004551.3(NDUFS3):c.134-28C>T4722NDUFS3Likely benignMedGen:C3661900not providedRCV001568047; 223335511476020494760204947602049-NJan 16, 2020criteria provided, single submitter1
35. Pubmed:
Pubtator:
503297NM_004551.3(NDUFS3):c.134-17A>C4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374not specifiedRCV000614835; 56140727111476020604760206011:g.47602060A>CClinGen:CA5977850NJan 25, 2018criteria provided, single submitter1
36. Pubmed:
Pubtator:
2078650NM_004551.3(NDUFS3):c.177A>C (p.Ser59=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV002880961; -1114760212047602120-NSep 22, 2022criteria provided, single submitter1
37. Pubmed:
Pubtator:
1528652NM_004551.3(NDUFS3):c.231+9_231+12del4722NDUFS3Likely benignMedGen:C3661900not providedRCV002094190; 209726815411476021794760218247602178-NDec 02, 2021criteria provided, single submitter1
38. Pubmed:
Pubtator:
1994967NM_004551.3(NDUFS3):c.231+9T>C4722NDUFS3Likely benignMedGen:CN517202not providedRCV002650439; -1114760218347602183NC_000011.9:g.47602183T>C-NJul 18, 2022criteria provided, single submitter1
39. Pubmed:
Pubtator:
1614734NM_004551.3(NDUFS3):c.232-9T>C4722NDUFS3Likely benignMedGen:C3661900not providedRCV002093777; 145610194211476023784760237847602378-NMar 02, 2022criteria provided, single submitter1
40. Pubmed:
Pubtator:
2110343NM_004551.3(NDUFS3):c.294T>C (p.Thr98=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV002957609; -1114760244947602449-NDec 25, 2021criteria provided, single submitter1
41. Pubmed:
Pubtator:
1937236NM_004551.3(NDUFS3):c.507+10C>T4722NDUFS3Likely benignMedGen:CN517202not providedRCV003105098; -1114760377547603775NC_000011.9:g.47603775C>T-NJul 15, 2022criteria provided, single submitter1
42. Pubmed:
Pubtator:
1194511NM_004551.3(NDUFS3):c.507+62C>T4722NDUFS3Likely benignMedGen:C3661900not providedRCV001569546; 223335811476038274760382747603827-NDec 05, 2018criteria provided, single submitter1
43. Pubmed:
Pubtator:
2153550NM_004551.3(NDUFS3):c.508-11C>G4722NDUFS3Likely benignMedGen:CN517202not providedRCV003028034; -1114760389047603890NC_000011.9:g.47603890C>G-NFeb 09, 2022criteria provided, single submitter1
44. Pubmed: 28492532
Pubtator: 28492532
724473NM_004551.3(NDUFS3):c.561C>T (p.Ile187=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000891836; 76051046311476039544760395411:g.47603954C>T-NSep 22, 2017criteria provided, single submitter1
45. Pubmed:
Pubtator:
1180839NM_004551.3(NDUFS3):c.579C>T (p.Phe193=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV001553251; 77839202711476039724760397247603972-NJul 25, 2019criteria provided, single submitter1
46. Pubmed:
Pubtator:
2080636NM_004551.3(NDUFS3):c.621T>C (p.Tyr207=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV002875994; -1114760401447604014-NAug 15, 2022criteria provided, single submitter1
47. Pubmed:
Pubtator:
503670NM_004551.3(NDUFS3):c.628-23_628-7dup4722NDUFS3Likely benignCN169374 not specified; MedGen:C3661900not providedRCV001697941; 130267574511476058374760583811:g.47605837_47605838insTGCTCAAGCCTGCCTTTClinGen:CA599375364NOct 16, 2018criteria provided, single submitter1
48. Pubmed:
Pubtator:
1640355NM_004551.3(NDUFS3):c.642T>C (p.Asp214=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV002174357; 76278496311476058804760588047605880-NDec 02, 2021criteria provided, single submitter1
49. Pubmed:
Pubtator:
503864NM_004551.3(NDUFS3):c.654G>T (p.Arg218=)4722NDUFS3Likely benignCN169374 not specified; MedGen:CN169374|MedGen:CN517202not specified|not providedRCV000615106|RCV002063926; 75787075811476058924760589211:g.47605892G>TClinGen:CA474220907NAug 19, 2022criteria provided, multiple submitters, no conflicts2
50. Pubmed: 28492532
Pubtator: 28492532
503873NM_004551.3(NDUFS3):c.669G>A (p.Pro223=)4722NDUFS3Likely benignCN169374 not specified; MedGen:CN517202not providedRCV000894611; 37079996611476059074760590711:g.47605907G>AClinGen:CA5978071NAug 15, 2022criteria provided, multiple submitters, no conflicts2
51. Pubmed:
Pubtator:
1567603NM_004551.3(NDUFS3):c.675G>A (p.Glu225=)4722NDUFS3Likely benignMedGen:C3661900not providedRCV002171178; 75451807511476059134760591347605913-NSep 07, 2022criteria provided, single submitter1
52. Pubmed: 28492532
Pubtator: 28492532
738019NM_004551.3(NDUFS3):c.768C>T (p.Ala256=)4722NDUFS3Likely benignMedGen:CN517202not providedRCV000907453; 54443978811476060064760600611:g.47606006C>T-NJul 21, 2018criteria provided, single submitter1
53. Pubmed:
Pubtator:
1198216NM_004551.3(NDUFS3):c.*15T>C4722NDUFS3Likely benignMedGen:C3661900not providedRCV001576718; 100442838311476060484760604847606048-NMar 02, 2017criteria provided, single submitter1
54. Pubmed:
Pubtator:
1210283NC_000011.10:g.47584604G>T4722NDUFS3Likely benignC1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; MedGen:C3661900not providedRCV001592565; 147942473114760615647606156-NDec 05, 2018criteria provided, single submitter1
55. Pubmed:
Pubtator:
1209133NC_000011.10:g.47584696dup4722NDUFS3Likely benignC1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; MedGen:C3661900not providedRCV001594351; 372312923114760623147606232-NOct 07, 2019criteria provided, single submitter1
56. Pubmed:
Pubtator:
1177459NC_000011.10:g.47584754A>C4722NDUFS3Likely benignC1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; MedGen:C3661900not providedRCV001545245; 7109918114760630647606306-NJul 07, 2018criteria provided, single submitter1
57. Pubmed:
Pubtator:
665750NM_018095.6(KBTBD4):c.19+133T>C4722NDUFS3BenignMedGen:C3661900not providedRCV000843220; 445013611476003524760035211:g.47600352A>G-NJun 14, 2018criteria provided, single submitter1
58. Pubmed:
Pubtator:
1227014NM_018095.6(KBTBD4):c.19+47G>A4722NDUFS3BenignMedGen:C3661900not providedRCV001636087; 228023111476004384760043847600438-NJun 23, 2018criteria provided, single submitter1
59. Pubmed:
Pubtator:
1243544NM_004551.3(NDUFS3):c.134-100C>T4722NDUFS3BenignMedGen:C3661900not providedRCV001663163; 223335411476019774760197747601977-NJun 23, 2018criteria provided, single submitter1
60. Pubmed:
Pubtator:
1248189NM_004551.3(NDUFS3):c.381+189dup4722NDUFS3BenignMedGen:C3661900not providedRCV001671226; 74697991811476027114760271247602711-NJan 25, 2020criteria provided, single submitter1
61. Pubmed:
Pubtator:
1242825NM_004551.3(NDUFS3):c.381+189del4722NDUFS3BenignMedGen:C3661900not providedRCV001661178; 74697991811476027124760271247602711-NOct 10, 2019criteria provided, single submitter1
62. Pubmed:
Pubtator:
665075NM_004551.3(NDUFS3):c.381+193C>T4722NDUFS3BenignMedGen:C3661900not providedRCV000844532; 203016611476027294760272911:g.47602729C>T-NJun 14, 2018criteria provided, single submitter1
63. Pubmed:
Pubtator:
1262835NC_000011.10:g.47584696del4722NDUFS3BenignC1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; MedGen:C3661900not providedRCV001684651; 372312923114760623247606232-NSep 09, 2019criteria provided, single submitter1
64. 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; 95009751011476006294760062911:g.47600629C>G-NJan 13, 2018criteria provided, single submitter1
65. Pubmed:
Pubtator:
1860693NM_004551.3(NDUFS3):c.22A>G (p.Arg8Gly)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002467336; -1114760066547600665NC_000011.9:g.47600665A>G-NJun 06, 2022criteria provided, single submitter1
66. Pubmed:
Pubtator:
2042212NM_004551.3(NDUFS3):c.22A>T (p.Arg8Trp)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002761343; -1114760066547600665NC_000011.9:g.47600665A>T-NJul 26, 2022criteria provided, single submitter1
67. Pubmed:
Pubtator:
2021183NM_004551.3(NDUFS3):c.23G>A (p.Arg8Lys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002721401; -1114760066647600666NC_000011.9:g.47600666G>A-NSep 01, 2022criteria provided, single submitter1
68. Pubmed:
Pubtator:
2075167NM_004551.3(NDUFS3):c.26T>C (p.Leu9Pro)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002839072; -1114760066947600669NC_000011.9:g.47600669T>C-NJul 07, 2022criteria provided, single submitter1
69. Pubmed:
Pubtator:
2335075NM_004551.3(NDUFS3):c.31T>C (p.Trp11Arg)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002946445; -1114760067447600674NC_000011.9:g.47600674T>C-NSep 22, 2022criteria provided, single submitter1
70. 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; 20145798911476006774760067711:g.47600677C>T-NJan 13, 2018criteria provided, single submitter1
71. Pubmed:
Pubtator:
2742450NM_004551.3(NDUFS3):c.37G>A (p.Gly13Arg)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003324894; -1114760068047600680-NFeb 25, 2023criteria provided, single submitter1
72. Pubmed:
Pubtator:
2189541NM_004551.3(NDUFS3):c.40A>C (p.Ile14Leu)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003052467; -1114760068347600683NC_000011.9:g.47600683A>C-NSep 27, 2022criteria provided, single submitter1
73. Pubmed:
Pubtator:
1496012NM_004551.3(NDUFS3):c.67+4A>C4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001887678; 142463087911476007144760071447600714-NMay 16, 2021criteria provided, single submitter1
74. Pubmed:
Pubtator:
444833NM_004551.3(NDUFS3):c.127A>G (p.Thr43Ala)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000522121; 1555198446114760088047600880NC_000011.9:g.47600880A>GClinGen:CA380356877NJun 28, 2017criteria provided, single submitter1
75. Pubmed:
Pubtator:
1486983NM_004551.3(NDUFS3):c.133+3_133+6del4722NDUFS3Uncertain significanceMedGen:C3661900|MONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230not provided|Mitochondrial complex 1 deficiency, nuclear type 8RCV001918177|RCV003147700; 75914019611476008874760089047600886-NAug 23, 2022criteria provided, multiple submitters, no conflicts2
76. 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:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506Inborn genetic diseases|Mitochondrial complex I deficiency, nuclear type 1|Leigh syndromeRCV000623097|RCV001105709|RCV001105708; 155519875911476020924760209211:g.47602092G>AClinGen:CA380357590NJan 12, 2018criteria provided, multiple submitters, no conflicts2
77. Pubmed:
Pubtator:
2015827NM_004551.3(NDUFS3):c.166A>G (p.Lys56Glu)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002695953; -1114760210947602109NC_000011.9:g.47602109A>G-NFeb 04, 2022criteria provided, single submitter1
78. Pubmed:
Pubtator:
1442517NM_004551.3(NDUFS3):c.185G>T (p.Gly62Val)4722NDUFS3Uncertain significanceMedGen:C3661900|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV002043066|RCV003355770; 88922836911476021284760212847602128-NJul 30, 2023criteria provided, multiple submitters, no conflicts2
79. Pubmed:
Pubtator:
2410656NM_004551.3(NDUFS3):c.223C>T (p.Gln75Ter)4722NDUFS3Uncertain significanceMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV003132864; -1114760216647602166NC_000011.9:g.47602166C>T-NAug 26, 2019criteria provided, single submitter1
80. Pubmed:
Pubtator:
1997786NM_004551.3(NDUFS3):c.229C>A (p.Gln77Lys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002675641; -1114760217247602172NC_000011.9:g.47602172C>A-NSep 27, 2022criteria provided, single submitter1
81. Pubmed:
Pubtator:
620833NM_004551.3(NDUFS3):c.232-1G>A4722NDUFS3Uncertain significance-NDUFS3-Related DisordersRCV000778328; 1565941981114760238647602386NC_000011.9:g.47602386G>A-NDec 10, 2018criteria provided, single submitter1
82. Pubmed:
Pubtator:
1887563NM_004551.3(NDUFS3):c.252A>T (p.Leu84Phe)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV003078747|RCV003089674; -1114760240747602407NC_000011.9:g.47602407A>T-NApr 09, 2022criteria provided, multiple submitters, no conflicts2
83. Pubmed:
Pubtator:
1902170NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp)4722NDUFS3Uncertain significanceMedGen:CN517202|MeSH:D030342,MedGen:C0950123not provided|Inborn genetic diseasesRCV003087981|RCV003087982; -1114760241047602410NC_000011.9:g.47602410G>C-NSep 22, 2022criteria provided, multiple submitters, no conflicts2
84. 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 significanceC0950123 Inborn genetic diseases; MeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV000624385; 1555198835114760242447602424NC_000011.9:g.47602424C>TClinGen:CA380358427NJul 12, 2017criteria provided, single submitter1
85. Pubmed:
Pubtator:
1458606NM_004551.3(NDUFS3):c.277G>A (p.Val93Ile)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV002028136; 76008999811476024324760243247602432-NSep 17, 2021criteria provided, single submitter1
86. Pubmed:
Pubtator:
2816612NM_004551.3(NDUFS3):c.297C>A (p.Phe99Leu)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV003390050; -1114760245247602452-NMay 01, 2022criteria provided, single submitter1
87. Pubmed:
Pubtator:
2063701NM_004551.3(NDUFS3):c.340T>G (p.Leu114Val)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002838976; -1114760249547602495NC_000011.9:g.47602495T>G-NJun 29, 2022criteria provided, single submitter1
88. Pubmed:
Pubtator:
1710524NM_004551.3(NDUFS3):c.347C>T (p.Ala116Val)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002293820; -111476025024760250247602502-NApr 20, 2022criteria provided, single submitter1
89. Pubmed:
Pubtator:
2448713NM_004551.3(NDUFS3):c.364C>T (p.Arg122Trp)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003192211; -1114760251947602519-NFeb 14, 2023criteria provided, single submitter1
90. Pubmed:
Pubtator:
2773997NM_004551.3(NDUFS3):c.368A>C (p.Gln123Pro)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003362275; -1114760252347602523-NJul 19, 2023criteria provided, single submitter1
91. Pubmed:
Pubtator:
2747572NM_004551.3(NDUFS3):c.373C>T (p.Arg125Cys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003329038; -1114760252847602528-NMar 15, 2023criteria provided, single submitter1
92. Pubmed:
Pubtator:
1363849NM_004551.3(NDUFS3):c.381+2T>C4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001904877; 215379534011476025384760253847602538-NDec 02, 2021criteria provided, single submitter1
93. Pubmed:
Pubtator:
2143082NM_004551.3(NDUFS3):c.381+4A>G4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002994164; -1114760254047602540NC_000011.9:g.47602540A>G-NAug 23, 2022criteria provided, single submitter1
94. Pubmed:
Pubtator:
1493561NC_000011.9:g.(?_47603620)_(47606033_?)del4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001944197; -1114760362047606033-1-NSep 22, 2021criteria provided, single submitter1
95. Pubmed:
Pubtator:
549978NM_004551.3(NDUFS3):c.401C>G (p.Ser134Cys)4722NDUFS3Uncertain significanceCN517202 not provided; MedGen:CN517202not providedRCV000677082; 754995990114760365947603659NC_000011.9:g.47603659C>G-NFeb 29, 2016no assertion criteria provided1
96. Pubmed:
Pubtator:
1017459NM_004551.3(NDUFS3):c.406C>T (p.Arg136Cys)4722NDUFS3Uncertain significanceMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MeSH:D030342,MedGen:C0950123|MedGen:C3661900Mitochondrial complex 1 deficiency, nuclear type 8|Inborn genetic diseases|not providedRCV001332479|RCV002546565|RCV002546566; 36844637311476036644760366447603664-NAug 16, 2022criteria provided, multiple submitters, no conflicts3
97. Pubmed: 30140060, 25741868
Pubtator: 30140060 25741868
626077NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp)4722NDUFS3Uncertain significanceMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230|MedGen:CN517202Mitochondrial complex 1 deficiency, nuclear type 8|not providedRCV000790863|RCV001557810; 14224867411476036764760367611:g.47603676C>T-NSep 13, 2019criteria provided, multiple submitters, no conflicts2
98. Pubmed:
Pubtator:
1052776NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)4722NDUFS3Uncertain significanceMONDO:MONDO:0032613,MedGen:C4748766,OMIM:618230Mitochondrial complex 1 deficiency, nuclear type 8RCV001374464; 37241758411476036774760367747603677OMIM:603846.0003NDec 02, 2021criteria provided, single submitter2
99. Pubmed:
Pubtator:
415277NM_004551.3(NDUFS3):c.424C>T (p.Arg142Cys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000489564; 146407178114760368247603682NC_000011.9:g.47603682C>TClinGen:CA5977986NJan 26, 2021criteria provided, single submitter1
100. 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; 78000595311476036834760368311:g.47603683G>A-NApr 27, 2017criteria provided, single submitter1
101. Pubmed:
Pubtator:
2389426NM_004551.3(NDUFS3):c.496T>C (p.Tyr166His)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002784322; -1114760375447603754NC_000011.9:g.47603754T>C-NNov 22, 2022criteria provided, single submitter1
102. Pubmed:
Pubtator:
2376896NM_004551.3(NDUFS3):c.505G>A (p.Glu169Lys)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002694090; -1114760376347603763NC_000011.9:g.47603763G>A-NNov 18, 2022criteria provided, single submitter1
103. Pubmed:
Pubtator:
1295357NM_004551.3(NDUFS3):c.538A>C (p.Asn180His)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001773792; 55047750211476039314760393147603931-NApr 24, 2019criteria provided, single submitter1
104. Pubmed:
Pubtator:
1301654NM_004551.3(NDUFS3):c.540C>A (p.Asn180Lys)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001755026; 75054650011476039334760393347603933-NJan 26, 2021criteria provided, single submitter1
105. Pubmed:
Pubtator:
2210995NM_004551.3(NDUFS3):c.580G>A (p.Glu194Lys)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV002656933; -1114760397347603973NC_000011.9:g.47603973G>A-NDec 07, 2021criteria provided, single submitter1
106. Pubmed: 25741868
Pubtator: 25741868
513602NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln)4722NDUFS3Uncertain significanceC1838979 252010 Mitochondrial complex I deficiency; MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609|MedGen:CN517202Mitochondrial complex I deficiency|not providedRCV000626206|RCV002533151; 77178383911476039894760398911:g.47603989G>AClinGen:CA5978034NJul 30, 2022criteria provided, multiple submitters, no conflicts2
107. Pubmed:
Pubtator:
1369635NM_004551.3(NDUFS3):c.627+2T>C4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001945293; 95070412311476040224760402247604022-NDec 02, 2021criteria provided, single submitter1
108. Pubmed:
Pubtator:
2177395NM_004551.3(NDUFS3):c.627+5G>A4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003055108; -1114760402547604025NC_000011.9:g.47604025G>A-NMay 28, 2022criteria provided, single submitter1
109. Pubmed:
Pubtator:
1924554NM_004551.3(NDUFS3):c.631C>T (p.Arg211Cys)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002640644; -1114760586947605869NC_000011.9:g.47605869C>T-NMar 23, 2022criteria provided, single submitter1
110. Pubmed:
Pubtator:
2126524NM_004551.3(NDUFS3):c.640G>A (p.Asp214Asn)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002975364; -1114760587847605878NC_000011.9:g.47605878G>A-NSep 01, 2022criteria provided, single submitter1
111. Pubmed:
Pubtator:
1366387NM_004551.3(NDUFS3):c.653G>A (p.Arg218Gln)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001929556; 7812171611476058914760589147605891-NSep 09, 2021criteria provided, single submitter1
112. Pubmed:
Pubtator:
2721874NM_004551.3(NDUFS3):c.678G>C (p.Leu226Phe)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123Inborn genetic diseasesRCV003269062; -1114760591647605916-NMay 30, 2023criteria provided, single submitter1
113. Pubmed:
Pubtator:
2160234NM_004551.3(NDUFS3):c.691del (p.Arg231fs)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003042203; -1114760592847605928NC_000011.9:g.47605929del-NJun 15, 2022criteria provided, single submitter1
114. Pubmed:
Pubtator:
1973540NM_004551.3(NDUFS3):c.692G>A (p.Arg231His)4722NDUFS3Uncertain significanceMeSH:D030342,MedGen:C0950123|MedGen:CN517202Inborn genetic diseases|not providedRCV002593783|RCV002608301; -1114760593047605930NC_000011.9:g.47605930G>A-NJul 19, 2022criteria provided, multiple submitters, no conflicts2
115. Pubmed:
Pubtator:
425933NM_004551.3(NDUFS3):c.694A>C (p.Lys232Gln)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV000498968; 1321310543114760593247605932NC_000011.9:g.47605932A>CClinGen:CA380362758NMay 31, 2017criteria provided, single submitter1
116. Pubmed:
Pubtator:
2171659NM_004551.3(NDUFS3):c.710G>T (p.Ser237Ile)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003026850; -1114760594847605948NC_000011.9:g.47605948G>T-NMar 17, 2022criteria provided, single submitter1
117. Pubmed:
Pubtator:
1710502NM_004551.3(NDUFS3):c.712C>T (p.Pro238Ser)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002293798; -111476059504760595047605950-NJul 13, 2022criteria provided, multiple submitters, no conflicts2
118. Pubmed:
Pubtator:
1914012NM_004551.3(NDUFS3):c.713C>T (p.Pro238Leu)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002632462; -1114760595147605951NC_000011.9:g.47605951C>T-NJun 22, 2022criteria provided, single submitter1
119. Pubmed:
Pubtator:
1976956NM_004551.3(NDUFS3):c.721G>A (p.Ala241Thr)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002608179; -1114760595947605959NC_000011.9:g.47605959G>A-NApr 05, 2022criteria provided, single submitter1
120. Pubmed:
Pubtator:
2077372NM_004551.3(NDUFS3):c.722del (p.Ala241fs)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002853486; -1114760596047605960NC_000011.9:g.47605960del-NAug 21, 2022criteria provided, single submitter1
121. Pubmed:
Pubtator:
1450487NM_004551.3(NDUFS3):c.734A>G (p.Tyr245Cys)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001915430; 76538054811476059724760597247605972-NDec 02, 2021criteria provided, single submitter1
122. Pubmed:
Pubtator:
211540NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001904778; 37672214911476059744760597447605974-NAug 10, 2022criteria provided, single submitter1
123. 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; 20137193911476059754760597511:g.47605975G>A-NJan 13, 2018criteria provided, single submitter1
124. Pubmed:
Pubtator:
2187921NM_004551.3(NDUFS3):c.742C>T (p.Pro248Ser)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003036564; -1114760598047605980NC_000011.9:g.47605980C>T-NAug 02, 2022criteria provided, single submitter1
125. Pubmed:
Pubtator:
1422205NM_004551.3(NDUFS3):c.746C>T (p.Pro249Leu)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001972166; 960011476059844760598447605984-NJul 05, 2022criteria provided, single submitter1
126. Pubmed:
Pubtator:
1339794NM_004551.3(NDUFS3):c.751_752dup (p.Ser251fs)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV002035902; 76000850211476059854760598647605985-NOct 24, 2022criteria provided, single submitter1
127. Pubmed:
Pubtator:
1423812NM_004551.3(NDUFS3):c.754C>T (p.Leu252Phe)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV001977777; 77725013911476059924760599247605992-NOct 24, 2022criteria provided, single submitter1
128. Pubmed:
Pubtator:
1416986NM_004551.3(NDUFS3):c.766G>C (p.Ala256Pro)4722NDUFS3Uncertain significanceMedGen:C3661900not providedRCV002014946; 124547739311476060044760600447606004-NSep 01, 2022criteria provided, single submitter1
129. Pubmed:
Pubtator:
2023735NM_004551.3(NDUFS3):c.769G>A (p.Gly257Arg)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002731215; -1114760600747606007NC_000011.9:g.47606007G>A-NMay 03, 2022criteria provided, single submitter1
130. Pubmed:
Pubtator:
2178068NM_004551.3(NDUFS3):c.782C>A (p.Pro261His)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV003047445; -1114760602047606020NC_000011.9:g.47606020C>A-NApr 19, 2022criteria provided, single submitter1
131. Pubmed:
Pubtator:
2029287NM_004551.3(NDUFS3):c.782C>T (p.Pro261Leu)4722NDUFS3Uncertain significanceMedGen:CN517202not providedRCV002745755; -1114760602047606020NC_000011.9:g.47606020C>T-NJun 13, 2022criteria provided, single submitter1
132. 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; 18949530111476060654760606511:g.47606065G>A-NJan 12, 2018criteria provided, single submitter1
133. 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; 14512156711476060724760607211:g.47606072C>T-NJan 13, 2018criteria provided, single submitter1



Candidate disease, gene and variant associations from pubmed:



Other disease, gene and variant associations from pubmed: