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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

1. MSeqDR: NDUFS1

Exome
External:

NCBI E ENSG00000023228 GeneCard GTR HGNC
Protein & RNA: Uniprot HPA GXA GTEx DC

Variants: MSeqDR MD-related 134(126)

, 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. 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:

252010; MeSH: C1838979, Mitochondrial complex I deficiency, 252010

Candidate disease, gene and variant associations from MSeqDR.org:

MSCV	HGVS_g	Accession	Gene	Clinical_significance	Disease	Condition_ID_value	Chromosome	Start	Stop	Reference_allele	Alternate_allele	Variant_type	Variation_identifiers	Location	Official_allele_name	Mode_of_inheritance	Allele_origin	ClinVar_alleleid
1._MSCV_0000846	2:g.206992550C>T	000000002310209	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	206992550	206992550	C	T	subst	rs397515447	NM_001199981.1:exon 15/18;;NM_001199982.1:exon 13/16;;NM_001199983.1:exon 15/18;;NM_001199984.1:exon	2:g.206992550C>T	Mode_of_inheritance	germline	65581	;
2._MSCV_0000847	2:g.206992622T>C	000000002310210	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	206992622	206992622	T	C	subst	rs387907199	NM_001199981.1:exon 15/18;;NM_001199982.1:exon 13/16;;NM_001199983.1:exon 15/18;;NM_001199984.1:exon	2:g.206992622T>C	Mode_of_inheritance	germline	40569	;
3._MSCV_0000848	2:g.206994851G>A	000000002310211	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	206994851	206994851	G	A	subst	rs372691318	NM_001199981.1:exon 14/18;;NM_001199982.1:exon 12/16;;NM_001199983.1:exon 14/18;;NM_001199984.1:exon	2:g.206994851G>A	Mode_of_inheritance	germline	65582	;
4._MSCV_0000850	2:g.207009733T>C	000000002310213	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5;not provided	MedGen:CN257511, OMIM:618226;MedGen:CN517202	2	207009733	207009733	T	C	subst	rs199422224	NM_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>C	Mode_of_inheritance	germline	29270	;
5._MSCV_0000851	2:g.207011643G>A	000000002310214	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	207011643	207011643	G	A	subst	rs199422225	NM_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>A	Mode_of_inheritance	germline	29271	;
6._MSCV_0000852	2:g.207011673G>C	000000002310215	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	207011673	207011673	G	C	subst	rs199422226	NM_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>C	Mode_of_inheritance	germline	29272	;
7._MSCV_0000854	2:g.207011696_207011698del	000000002310217	NDUFS1	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	MedGen:CN257511, OMIM:618226	2	207011696	207011698	ATG	-	del	rs397515383		2:g.207011696_207011698del	Mode_of_inheritance	germline	29269	;
8._MSCV_0000849	2:g.207006705G>A	000000002310212	NDUFS1	Likely pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5;not provided	MedGen:CN257511, OMIM:618226;MedGen:CN517202	2	207006705	207006705	G	A	subst	rs149271416	NM_001199981.1:exon 11/18;;NM_001199982.1:exon 9/16;;NM_001199983.1:exon 11/18;;NM_001199984.1:exon	2:g.207006705G>A	Mode_of_inheritance	germline	65583	;
9._MSCV_0019369	2:g.207009730A>C	000000002317802	NDUFS1	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	MedGen:C0162671, OMIM:540000, Orphanet:ORPHA550, SNOMED CT:39925003	2	207009730	207009730	A	C				2:g.207009730A>C	Mode_of_inheritance	germline	188274	;
10._MSCV_0019360	2:g.207003230C>T	000000002317794	NDUFS1	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207003230	207003230	C	T				2:g.207003230C>T	Mode_of_inheritance	germline;unknown	142183	;
11._MSCV_0019362	2:g.207003310G>C	000000002317796	NDUFS1	Conflicting interpretations of pathogenicity	Mitochondrial complex I deficiency;not provided;not specified	MedGen:C2936907, Orphanet:ORPHA2609;MedGen:CN517202;MedGen:CN169374	2	207003310	207003310	G	C				2:g.207003310G>C	Mode_of_inheritance	germline;unknown	142182	;
12._MSCV_0019375	2:g.207012392T>C	000000002317804	NDUFS1	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex I deficiency;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207012392	207012392	T	C				2:g.207012392T>C	Mode_of_inheritance	germline	142177	;
13._MSCV_0019339	2:g.206988063del	000000002317776	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988063	206988063	A	-				2:g.206988063del	Mode_of_inheritance	germline	284147	;
14._MSCV_0019341	2:g.206988176T>C	000000002317778	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988176	206988176	T	C				2:g.206988176T>C	Mode_of_inheritance	germline	284148	;
15._MSCV_0019345	2:g.206988452A>T	000000002317782	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988452	206988452	A	T				2:g.206988452A>T	Mode_of_inheritance	germline	286845	;
16._MSCV_0019348	2:g.206988573C>A	000000002317785	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988573	206988573	C	A				2:g.206988573C>A	Mode_of_inheritance	germline	284912	;
17._MSCV_0019349	2:g.206988653G>A	000000002317786	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988653	206988653	G	A				2:g.206988653G>A	Mode_of_inheritance	germline	284167	;
18._MSCV_0019383	2:g.207024107G>C	000000002317812	NDUFS1	Likely benign	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	207024107	207024107	G	C				2:g.207024107G>C	Mode_of_inheritance	germline	284926	;
19._MSCV_0019363	2:g.207006676T>C	000000002317797	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207006676	207006676	T	C				2:g.207006676T>C	Mode_of_inheritance	germline;unknown	135141	;
20._MSCV_0019366	2:g.207008754G>A	000000002317799	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207008754	207008754	G	A				2:g.207008754G>A	Mode_of_inheritance	germline	142179	;
21._MSCV_0019367	2:g.207008763C>A	000000002317800	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207008763	207008763	C	A				2:g.207008763C>A	Mode_of_inheritance	germline;unknown	135142	;
22._MSCV_0019374	2:g.207012241G>T	000000002317803	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207012241	207012241	G	T				2:g.207012241G>T	Mode_of_inheritance	germline	142178	;
23._MSCV_0019376	2:g.207012483A>G	000000002317805	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207012483	207012483	A	G				2:g.207012483A>G	Mode_of_inheritance	germline;unknown	142176	;
24._MSCV_0019382	2:g.207017173G>A	000000002317811	NDUFS1	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not specified	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207017173	207017173	G	A				2:g.207017173G>A	Mode_of_inheritance	germline	142185	;
25._MSCV_0019336	2:g.206987943T>C	000000002317773	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206987943	206987943	T	C				2:g.206987943T>C	Mode_of_inheritance	germline	284146	;
26._MSCV_0019337	2:g.206988043T>G	000000002317774	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988043	206988043	T	G				2:g.206988043T>G	Mode_of_inheritance	germline	286832	;
27._MSCV_0019340	2:g.206988153T>A	000000002317777	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988153	206988153	T	A				2:g.206988153T>A	Mode_of_inheritance	germline	286835	;
28._MSCV_0019342	2:g.206988268T>C	000000002317779	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988268	206988268	T	C				2:g.206988268T>C	Mode_of_inheritance	germline	284149	;
29._MSCV_0019343	2:g.206988348A>G	000000002317780	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988348	206988348	A	G				2:g.206988348A>G	Mode_of_inheritance	germline	284909	;
30._MSCV_0019344	2:g.206988405C>T	000000002317781	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988405	206988405	C	T				2:g.206988405C>T	Mode_of_inheritance	germline	286843	;
31._MSCV_0019346	2:g.206988471G>A	000000002317783	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988471	206988471	G	A				2:g.206988471G>A	Mode_of_inheritance	germline	284911	;
32._MSCV_0019347	2:g.206988510C>T	000000002317784	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988510	206988510	C	T				2:g.206988510C>T	Mode_of_inheritance	germline	287226	;
33._MSCV_0019350	2:g.206988751A>G	000000002317787	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988751	206988751	A	G				2:g.206988751A>G	Mode_of_inheritance	germline	286846	;
34._MSCV_0019351	2:g.206988758A>G	000000002317788	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988758	206988758	A	G				2:g.206988758A>G	Mode_of_inheritance	germline	284913	;
35._MSCV_0019353	2:g.206988882G>A	000000002317790	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206988882	206988882	G	A				2:g.206988882G>A	Mode_of_inheritance	germline	287235	;
36._MSCV_0019354	2:g.206991447T>C	000000002317791	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206991447	206991447	T	C				2:g.206991447T>C	Mode_of_inheritance	germline	287236	;
37._MSCV_0019358	2:g.206997706C>T	000000002317792	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206997706	206997706	C	T				2:g.206997706C>T	Mode_of_inheritance	germline	287237	;
38._MSCV_0019359	2:g.206997836del	000000002317793	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	206997836	206997836	A	-				2:g.206997836del	Mode_of_inheritance	germline	287238	;
39._MSCV_0019361	2:g.207003238T>C	000000002317795	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	207003238	207003238	T	C				2:g.207003238T>C	Mode_of_inheritance	germline	287239	;
40._MSCV_0019365	2:g.207007423T>C	000000002317798	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency;not provided	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207007423	207007423	T	C				2:g.207007423T>C	Mode_of_inheritance	germline	286850	;
41._MSCV_0019368	2:g.207008821G>C	000000002317801	NDUFS1	Uncertain significance	Mitochondrial complex I deficiency	MedGen:C2936907, Orphanet:ORPHA2609	2	207008821	207008821	G	C				2:g.207008821G>C	Mode_of_inheritance	germline	404755	;
42._MSCV_0019377	2:g.207012501G>T	000000002317806	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	207012501	207012501	G	T				2:g.207012501G>T	Mode_of_inheritance	germline	287244	;
43._MSCV_0019378	2:g.207012533C>T	000000002317807	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	207012533	207012533	C	T				2:g.207012533C>T	Mode_of_inheritance	germline	287247	;
44._MSCV_0019380	2:g.207013835del	000000002317809	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609	2	207013835	207013835	A	-				2:g.207013835del	Mode_of_inheritance	germline	287257	;
45._MSCV_0019381	2:g.207014658_207014659del	000000002317810	NDUFS1	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency;not provided	MedGen:C0023264, OMIM:256000, Orphanet:ORPHA506, SNOMED CT:29570005;MedGen:C2936907, Orphanet:ORPHA2609;	2	207014658	207014659	AA	-				2:g.207014658_207014659del	Mode_of_inheritance	germline;unknown	284922	;
46._MSCV_0019338	2:g.206988062_206988063insA	000000002317775	NDUFS1	33			2	206988062	206988063	Reference_allele	Alternate_allele				2:g.206988062_206988063insA	Mode_of_inheritance		-1	;
47._MSCV_0019352	2:g.206988815_206988816insT	000000002317789	NDUFS1	0			2	206988815	206988816	Reference_allele	Alternate_allele				2:g.206988815_206988816insT	Mode_of_inheritance		-1	;
48._MSCV_0009054	2:g.206988964C>T	000000002323802	NDUFS1	0			2	206988964	206988964	Reference_allele	Alternate_allele				2:g.206988964C>T	Mode_of_inheritance		-1	;
49._MSCV_0009055	2:g.206994967C>T	000000002323797	NDUFS1	0			2	206994967	206994967	Reference_allele	Alternate_allele				2:g.206994967C>T	Mode_of_inheritance		-1	;
50._MSCV_0009056	2:g.207006678T>C	000000002323798	NDUFS1	0			2	207006678	207006678	Reference_allele	Alternate_allele				2:g.207006678T>C	Mode_of_inheritance		-1	;
51._MSCV_0009057	2:g.207009643T>C	000000002323799	NDUFS1	0			2	207009643	207009643	Reference_allele	Alternate_allele				2:g.207009643T>C	Mode_of_inheritance		-1	;
52._MSCV_0009058	2:g.207011626C>T	000000002323800	NDUFS1	0			2	207011626	207011626	Reference_allele	Alternate_allele				2:g.207011626C>T	Mode_of_inheritance		-1	;
53._MSCV_0009059	2:g.207011681A>G	000000002323801	NDUFS1	0			2	207011681	207011681	Reference_allele	Alternate_allele				2:g.207011681A>G	Mode_of_inheritance		-1	;
54._MSCV_0000853	2:g.207011685G>A	000000002310216	NDUFS1	0			2	207011685	207011685	Reference_allele	Alternate_allele	subst	NA	NM_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>A	Mode_of_inheritance		-1	;
55._MSCV_0019379	2:g.207013834_207013835insA	000000002317808	NDUFS1	0			2	207013834	207013835	Reference_allele	Alternate_allele				2:g.207013834_207013835insA	Mode_of_inheritance		-1	;
56._MSCV_0009060	2:g.207017232G>A	000000002323796	NDUFS1	0			2	207017232	207017232	Reference_allele	Alternate_allele				2:g.207017232G>A	Mode_of_inheritance		-1	;

Candidate disease, gene and variant associations from ClinVar:

PUBMED	AlleleID	Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	Disease_ClinVar	PhenotypeIDs	PhenotypeList	RCVaccession	dbSNP	Chromosome	Start	Stop	HGVS_g	OtherIDs	TestedInGTR	LastEvaluated	ReviewStatus	NumberSubmitters
1. Pubmed: Pubtator:	287237	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 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:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|Mitochondrial complex 1 deficiency, nuclear type 5\|See cases\|not provided	RCV000348996\|RCV000397471\|RCV001728094\|RCV002252098\|RCV001861145;	137889316	2	206997706	206997706	2:g.206997706C>T	ClinGen:CA2070426	N	Mar 27, 2023	criteria provided, conflicting interpretations	6
2. Pubmed: Pubtator:	287238	NM_005006.7(NDUFS1):c.1393-7del	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN517202	Mitochondrial complex I deficiency\|Leigh syndrome\|not provided	RCV000313581\|RCV000352020\|RCV001519149;	760292289	2	206997836	206997836	2:g.206997836_206997836del	ClinGen:CA2070449	N	Jun 15, 2022	criteria provided, conflicting interpretations	2
3. Pubmed: 25741868 Pubtator: 25741868	142183	NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 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:618226	not specified\|Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000127145\|RCV000298259\|RCV000399898\|RCV000676270\|RCV001000338;	2230892	2	207003230	207003230	2:g.207003230C>T	ClinGen:CA292489	N	Oct 31, 2022	criteria provided, conflicting interpretations	6
4. Pubmed: 28492532 Pubtator: 28492532	142177	NM_005006.7(NDUFS1):c.421-7A>G	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 256000 Leigh syndrome;	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	not specified\|Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000127139\|RCV000296747\|RCV000388644\|RCV000888456;	192949406	2	207012392	207012392	2:g.207012392T>C	ClinGen:CA292482	N	Oct 01, 2023	criteria provided, conflicting interpretations	5
5. Pubmed: Pubtator:	287274	NM_005006.7(NDUFS1):c.262-15dup	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency\|not provided	RCV000268364\|RCV000360707\|RCV002057638;	34184317	2	207013834	207013835	NC_000002.11:g.207013845dup	ClinGen:CA2070832	N	Oct 20, 2022	criteria provided, conflicting interpretations	2
6. Pubmed: Pubtator:	287257	NM_005006.7(NDUFS1):c.262-15del	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN517202	Mitochondrial complex I deficiency\|Leigh syndrome\|not provided	RCV000307662\|RCV000364669\|RCV001522963;	34184317	2	207013835	207013835	NC_000002.11:g.207013845del	ClinGen:CA2070831	N	Nov 01, 2022	criteria provided, conflicting interpretations	3
7. Pubmed: Pubtator:	284922	NM_005006.7(NDUFS1):c.154-10_154-9del	4719	NDUFS1	Conflicting interpretations of pathogenicity	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN517202	Mitochondrial complex I deficiency\|Leigh syndrome\|not provided	RCV000272442\|RCV000329832\|RCV000676276;	568965659	2	207014658	207014659	NC_000002.11:g.207014681_207014682del	ClinGen:CA2070864	N	Aug 09, 2019	criteria provided, conflicting interpretations	3
8. Pubmed: Pubtator:	284147	NM_005006.7(NDUFS1):c.*846del	4719	NDUFS1	Likely benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	Leigh syndrome\|Mitochondrial complex I deficiency	RCV000329565\|RCV000367850;	58253838	2	206988063	206988063	NC_000002.11:g.206988074del	ClinGen:CA10612141	N	Jun 14, 2016	criteria provided, single submitter	1
9. Pubmed: Pubtator:	287226	NM_005006.7(NDUFS1):c.*399G>A	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV000310899\|RCV000402213\|RCV001653618;	77000728	2	206988510	206988510	2:g.206988510C>T	ClinGen:CA10613952	N	May 20, 2021	criteria provided, multiple submitters, no conflicts	2
10. Pubmed: Pubtator:	284167	NM_005006.7(NDUFS1):c.*256C>T	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000333555\|RCV000353381\|RCV001711947;	10198830	2	206988653	206988653	2:g.206988653G>A	ClinGen:CA10612152	N	Jul 09, 2018	criteria provided, multiple submitters, no conflicts	2
11. Pubmed: Pubtator:	286846	NM_005006.7(NDUFS1):c.*158T>C	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000260695\|RCV000318219;	3770989	2	206988751	206988751	2:g.206988751A>G	ClinGen:CA10613697	N	Jan 13, 2018	criteria provided, single submitter	1
12. Pubmed: Pubtator:	142179	NM_005006.7(NDUFS1):c.975C>T (p.Arg325=)	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	not specified\|Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000127141\|RCV000270808\|RCV000381710\|RCV002055703;	2230890	2	207008754	207008754	2:g.207008754G>A	ClinGen:CA292484	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	3
13. Pubmed: Pubtator:	142178	NM_005006.7(NDUFS1):c.551+14C>A	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	not specified\|Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000127140\|RCV000293249\|RCV000350546\|RCV001523312;	10206644	2	207012241	207012241	2:g.207012241G>T	ClinGen:CA292483	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	3
14. Pubmed: 25741868 Pubtator: 25741868	142176	NM_005006.7(NDUFS1):c.414T>C (p.Asp138=)	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MedGen:CN169374\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	not specified\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV000127138\|RCV000334929\|RCV000395218\|RCV000676275;	11548670	2	207012483	207012483	2:g.207012483A>G	ClinGen:CA292480	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	5
15. Pubmed: Pubtator:	142185	NM_005006.7(NDUFS1):c.123C>T (p.Val41=)	4719	NDUFS1	Benign/Likely benign	C0023264 256000 Leigh syndrome;	MedGen:CN169374\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	not specified\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV000127147\|RCV000275731\|RCV000386489\|RCV002055704;	2230888	2	207017173	207017173	2:g.207017173G>A	ClinGen:CA292492	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	3
16. Pubmed: Pubtator:	284148	NM_005006.7(NDUFS1):c.*733A>G	4719	NDUFS1	Benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000278615\|RCV000389432;	6707707	2	206988176	206988176	NC_000002.11:g.206988176T>C	ClinGen:CA10612142	N	Jan 12, 2018	criteria provided, single submitter	1
17. Pubmed: Pubtator:	286845	NM_005006.7(NDUFS1):c.*457T>A	4719	NDUFS1	Benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000342686\|RCV000394556\|RCV001683335;	4147728	2	206988452	206988452	2:g.206988452A>T	ClinGen:CA10613696	N	May 13, 2021	criteria provided, multiple submitters, no conflicts	2
18. Pubmed: Pubtator:	284912	NM_005006.7(NDUFS1):c.*336G>T	4719	NDUFS1	Benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000275804\|RCV000368047\|RCV001636929;	1044120	2	206988573	206988573	2:g.206988573C>A	ClinGen:CA10612578	N	May 13, 2021	criteria provided, multiple submitters, no conflicts	2
19. Pubmed: 25741868 Pubtator: 25741868	135141	NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=)	4719	NDUFS1	Benign	C0023264 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:618226	not specified\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000117709\|RCV000301574\|RCV000358690\|RCV000676271\|RCV001778737;	1801318	2	207006676	207006676	2:g.207006676T>C	ClinGen:CA153859	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	7
20. Pubmed: 25741868 Pubtator: 25741868	135142	NM_005006.7(NDUFS1):c.966G>T (p.Ala322=)	4719	NDUFS1	Benign	C0023264 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:618226	not specified\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000117710\|RCV000328157\|RCV000385000\|RCV000676273\|RCV001778738;	1127566	2	207008763	207008763	2:g.207008763C>A	ClinGen:CA153862	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	7
21. Pubmed: Pubtator:	284926	NM_005006.7(NDUFS1):c.-47C>G	4719	NDUFS1	Benign	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV000333207\|RCV000371529\|RCV001672569;	4147707	2	207024107	207024107	NC_000002.11:g.207024107G>C	ClinGen:CA10612589	N	Jan 12, 2018	criteria provided, multiple submitters, no conflicts	2
22. Pubmed: Pubtator:	284146	NM_005006.7(NDUFS1):c.*966A>G	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000301641\|RCV000358744;	755776989	2	206987943	206987943	NC_000002.11:g.206987943T>C	ClinGen:CA10612140	N	Jan 12, 2018	criteria provided, single submitter	1
23. Pubmed: Pubtator:	286832	NM_005006.7(NDUFS1):c.*866A>C	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000307294\|RCV000398472;	749790811	2	206988043	206988043	NC_000002.11:g.206988043T>G	ClinGen:CA10613689	N	Jan 12, 2018	criteria provided, single submitter	1
24. Pubmed: Pubtator:	287223	NM_005006.7(NDUFS1):c.*846dup	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	Leigh syndrome\|Mitochondrial complex I deficiency	RCV000271891\|RCV000364348;	58253838	2	206988062	206988063	NC_000002.11:g.206988074dup	ClinGen:CA10613950	N	Jun 14, 2016	criteria provided, single submitter	1
25. Pubmed: Pubtator:	286835	NM_005006.7(NDUFS1):c.*756A>T	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000275533\|RCV000332991;	755460274	2	206988153	206988153	NC_000002.11:g.206988153T>A	ClinGen:CA10613692	N	Jan 13, 2018	criteria provided, single submitter	1
26. Pubmed: Pubtator:	284149	NM_005006.7(NDUFS1):c.*641A>G	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000317468\|RCV000374378;	886055501	2	206988268	206988268	NC_000002.11:g.206988268T>C	ClinGen:CA10612143	N	Jan 12, 2018	criteria provided, single submitter	1
27. Pubmed: Pubtator:	284909	NM_005006.7(NDUFS1):c.*561T>C	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000282324\|RCV000339709;	146538309	2	206988348	206988348	NC_000002.11:g.206988348A>G	ClinGen:CA10612576	N	Jan 12, 2018	criteria provided, single submitter	1
28. Pubmed: Pubtator:	286843	NM_005006.7(NDUFS1):c.*504G>A	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000286009\|RCV000394554;	548641207	2	206988405	206988405	2:g.206988405C>T	ClinGen:CA10613695	N	Jan 12, 2018	criteria provided, single submitter	1
29. Pubmed: Pubtator:	284911	NM_005006.7(NDUFS1):c.*438C>T	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000307565\|RCV000364628;	561980718	2	206988471	206988471	2:g.206988471G>A	ClinGen:CA10612577	N	Jan 13, 2018	criteria provided, single submitter	1
30. Pubmed: Pubtator:	284913	NM_005006.7(NDUFS1):c.*151T>C	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000283276\|RCV000375427;	533179154	2	206988758	206988758	2:g.206988758A>G	ClinGen:CA10612579	N	Jan 12, 2018	criteria provided, single submitter	1
31. Pubmed: Pubtator:	284169	NM_005006.7(NDUFS1):c.*93dup	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency\|Leigh syndrome	RCV000321842\|RCV000378852;	200446477	2	206988815	206988816	2:g.206988815_206988816insT	ClinGen:CA10612153	N	Jun 14, 2016	criteria provided, single submitter	1
32. Pubmed: Pubtator:	287235	NM_005006.7(NDUFS1):c.*27C>T	4719	NDUFS1	Uncertain significance	C0023264 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:618226	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000288060\|RCV000345317\|RCV002480186;	369746514	2	206988882	206988882	2:g.206988882G>A	ClinGen:CA2070238	N	Jan 14, 2022	criteria provided, multiple submitters, no conflicts	2
33. Pubmed: Pubtator:	287236	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	4719	NDUFS1	Uncertain significance	C0023264 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:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000291718\|RCV000397460\|RCV001841256\|RCV001824308;	142716964	2	206991447	206991447	2:g.206991447T>C	ClinGen:CA2070307	N	Oct 17, 2022	criteria provided, multiple submitters, no conflicts	5
34. Pubmed: Pubtator:	287239	NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val)	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000262962\|RCV000355346;	758095913	2	207003238	207003238	2:g.207003238T>C	ClinGen:CA2070480	N	Jan 13, 2018	criteria provided, single submitter	1
35. Pubmed: Pubtator:	286850	NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000266394\|RCV000323881\|RCV000519440;	765436915	2	207007423	207007423	2:g.207007423T>C	ClinGen:CA2070563	N	Jan 06, 2020	criteria provided, multiple submitters, no conflicts	2
36. Pubmed: Pubtator:	287244	NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu)	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV000299872\|RCV000338484;	757139275	2	207012501	207012501	2:g.207012501G>T	ClinGen:CA2070790	N	Jan 12, 2018	criteria provided, single submitter	1
37. Pubmed: Pubtator:	287247	NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr)	4719	NDUFS1	Uncertain significance	C0023264 256000 Leigh syndrome;	MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV000303664\|RCV000395226;	886055502	2	207012533	207012533	2:g.207012533C>T	ClinGen:CA2070794	N	Jan 13, 2018	criteria provided, single submitter	1
38. Pubmed: Pubtator:	210743	NM_005006.7(NDUFS1):c.1393-2A>C	4719	NDUFS1	Pathogenic/Likely pathogenic	CN517202 not provided;	MedGen:C3661900\|	not provided\|See cases	RCV000197167\|RCV002252051;	370009373	2	206997831	206997831	NC_000002.11:g.206997831T>G	ClinGen:CA321608	N	Aug 31, 2022	criteria provided, multiple submitters, no conflicts	3
39. Pubmed: 21458341, 20382551, 19167255 Pubtator: 21458341 20382551 19167255	421356	NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)	4719	NDUFS1	Pathogenic/Likely pathogenic	CN517202 not provided;	MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000493658\|RCV000779296;	370411488	2	207011681	207011681	2:g.207011681A>G	ClinGen:CA2070700	N	Jan 12, 2023	criteria provided, multiple submitters, no conflicts	4
40. Pubmed: Pubtator:	2300480	NM_005006.7(NDUFS1):c.503del (p.Leu168fs)	4719	NDUFS1	Pathogenic/Likely pathogenic		MeSH:D030342,MedGen:C0950123\|	Inborn genetic diseases\|NDUFS1-related condition	RCV002900882\|RCV003404172;	-1	2	207012303	207012303	NC_000002.11:g.207012304del	-	N	Feb 24, 2023	criteria provided, multiple submitters, no conflicts	2
41. Pubmed: 20382551 Pubtator: 20382551	65581	NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn)	4719	NDUFS1	Pathogenic	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000043634;	397515447	2	206992550	206992550	2:g.206992550C>T	ClinGen:CA143869,OMIM:157655.0006	N	Jul 01, 2010	no assertion criteria provided	1
42. Pubmed: 20382551 Pubtator: 20382551	65582	NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter)	4719	NDUFS1	Pathogenic	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000043635\|RCV001558587;	372691318	2	206994851	206994851	2:g.206994851G>A	ClinGen:CA143871,OMIM:157655.0007	N	Jun 22, 2023	criteria provided, multiple submitters, no conflicts	4
43. Pubmed: Pubtator:	2111008	NM_005006.7(NDUFS1):c.1255C>T (p.Arg419Ter)	4719	NDUFS1	Pathogenic		MedGen:CN517202	not provided	RCV002909609;	-1	2	207006672	207006672	NC_000002.11:g.207006672G>A	-	N	Aug 13, 2022	criteria provided, single submitter	1
44. Pubmed: Pubtator:	1366589	NM_005006.7(NDUFS1):c.1070del (p.Leu357fs)	4719	NDUFS1	Pathogenic		MedGen:C3661900	not provided	RCV001960547;	2105968169	2	207007473	207007473	207007472	-	N	Nov 16, 2021	criteria provided, single submitter	1
45. Pubmed: 25741868, 11349233 Pubtator: 25741868 11349233	29270	NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)	4719	NDUFS1	Pathogenic	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000015299\|RCV000198207;	199422224	2	207009733	207009733	2:g.207009733T>C	ClinGen:CA123814,UniProtKB:P28331#VAR_019533,OMIM:157655.0002	N	May 19, 2017	criteria provided, multiple submitters, no conflicts	3
46. Pubmed: Pubtator:	210746	NM_005006.7(NDUFS1):c.699_700del (p.Lys234fs)	4719	NDUFS1	Pathogenic		MedGen:C3661900	not provided	RCV000195890;	1553506655	2	207011664	207011665	NC_000002.11:g.207011664_207011665del	ClinGen:CA320269	N	Apr 01, 2022	criteria provided, multiple submitters, no conflicts	2
47. Pubmed: Pubtator:	1438690	NM_005006.7(NDUFS1):c.673dup (p.Ile225fs)	4719	NDUFS1	Pathogenic		MedGen:C3661900	not provided	RCV002007462;	2105973807	2	207011690	207011691	207011690	-	N	Mar 31, 2021	criteria provided, single submitter	1
48. Pubmed: 11349233 Pubtator: 11349233	29269	NM_005006.7(NDUFS1):c.666_668del (p.Ile223del)	4719	NDUFS1	Pathogenic	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000015298;	397515383	2	207011696	207011698	2:g.207011696_207011698del	ClinGen:CA123812,OMIM:157655.0001	N	Jun 01, 2001	no assertion criteria provided	1
49. Pubmed: Pubtator:	1995692	NM_005006.7(NDUFS1):c.454C>T (p.Arg152Ter)	4719	NDUFS1	Pathogenic		MedGen:CN517202	not provided	RCV002640165;	-1	2	207012352	207012352	NC_000002.11:g.207012352G>A	-	N	Aug 19, 2022	criteria provided, single submitter	1
50. Pubmed: 25741868 Pubtator: 25741868	614599	NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)	4719	NDUFS1	Pathogenic		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex I deficiency, nuclear type 1\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000768438\|RCV002493399;	750971390	2	207017232	207017232	NC_000002.11:g.207017232G>A	-	N	Feb 27, 2022	criteria provided, single submitter	2
51. Pubmed: Pubtator:	1962877	NM_005006.7(NDUFS1):c.29_42del (p.Ala9_Leu10insTer)	4719	NDUFS1	Pathogenic		MedGen:CN517202	not provided	RCV002572365;	-1	2	207018361	207018374	NC_000002.11:g.207018363_207018376del	-	N	Sep 14, 2022	criteria provided, single submitter	1
52. Pubmed: Pubtator:	788745	NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000985117;	1321888585	2	206988972	206988972	2:g.206988972C>T	-	N	Sep 26, 2019	no assertion criteria provided	1
53. Pubmed: Pubtator:	210733	NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000199572;	767122069	2	206988986	206988986	2:g.206988986C>T	ClinGen:CA324118	N	Aug 13, 2015	criteria provided, single submitter	1
54. Pubmed: Pubtator:	2671462	NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003236686;	-1	2	206988991	206988991		-	N	Jun 22, 2023	criteria provided, single submitter	1
55. Pubmed: Pubtator:	806273	NM_005006.7(NDUFS1):c.1950_1951del (p.Ser650_Pro651insTer)	4719	NDUFS1	Likely pathogenic		MedGen:CN517202	not provided	RCV001008053;	1575944638	2	206991502	206991503	2:g.206991502_206991503del	-	N	Dec 07, 2018	criteria provided, single submitter	1
56. Pubmed: Pubtator:	1315051	NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV001782505;	2105945363	2	206992595	206992595	206992595	-	N	Sep 03, 2021	criteria provided, single submitter	1
57. Pubmed: Pubtator:	210735	NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000195727;	863224099	2	206992605	206992605	2:g.206992605C>G	ClinGen:CA320092	N	Feb 15, 2013	criteria provided, single submitter	1
58. Pubmed: Pubtator:	2798175	NM_005006.7(NDUFS1):c.1773_1774dup (p.Lys592fs)	4719	NDUFS1	Likely pathogenic		-	NDUFS1-related condition	RCV003402201;	-1	2	206992630	206992631		-	N	Apr 20, 2023	criteria provided, single submitter	1
59. Pubmed: Pubtator:	210736	NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000198567;	863224103	2	206992678	206992678	NC_000002.11:g.206992678C>T	ClinGen:CA323085	N	Sep 09, 2014	criteria provided, single submitter	1
60. Pubmed: Pubtator:	210739	NM_005006.7(NDUFS1):c.1696A>T (p.Ile566Phe)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000197278;	863224097	2	206994824	206994824	NC_000002.11:g.206994824T>A	ClinGen:CA321724	N	Aug 27, 2012	criteria provided, single submitter	1
61. Pubmed: Pubtator:	438188	NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000512917;	1553503175	2	206994923	206994924	2:g.206994923_206994924insCG	ClinGen:CA658653760	N	Apr 30, 2017	criteria provided, single submitter	1
62. Pubmed: Pubtator:	790154	NM_005006.7(NDUFS1):c.1393-7_1393-3del	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Leigh syndrome	RCV000986981;	1559047521	2	206997832	206997836	2:g.206997832_206997836del	-	N	May 28, 2019	criteria provided, single submitter	1
63. Pubmed: Pubtator:	861127	NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV001261539;	200397416	2	207003316	207003316	NC_000002.11:g.207003316C>T	-	N	Jul 05, 2019	criteria provided, single submitter	1
64. Pubmed: Pubtator:	425460	NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000497455\|RCV001249843;	151279101	2	207006704	207006704	2:g.207006704C>T	ClinGen:CA2070521	N	Feb 20, 2019	criteria provided, multiple submitters, no conflicts	2
65. Pubmed: Pubtator:	1861039	NM_005006.7(NDUFS1):c.988-2A>C	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV002468752;	-1	2	207007557	207007557	NC_000002.11:g.207007557T>G	-	N	Feb 18, 2021	criteria provided, single submitter	1
66. Pubmed: 25741868 Pubtator: 25741868	614598	NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	RCV000768439;	1485032272	2	207009643	207009643	NC_000002.11:g.207009643T>C	-	N	-	no assertion criteria provided	1
67. Pubmed: 26036949, 22499341 Pubtator: 26036949 22499341	188274	NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)	4719	NDUFS1	Likely pathogenic	C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;	MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000, Orphanet:550	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000170569;	786205666	2	207009730	207009730	2:g.207009730A>C	ClinGen:CA274773	N	Aug 12, 2011	criteria provided, single submitter	1
68. Pubmed: Pubtator:	421357	NM_005006.7(NDUFS1):c.661A>T (p.Asn221Tyr)	4719	NDUFS1	Likely pathogenic	CN517202 not provided;	MedGen:CN517202	not provided	RCV000493034;	1131692032	2	207011703	207011703	2:g.207011703T>A	ClinGen:CA350059523	N	Jul 01, 2016	criteria provided, single submitter	1
69. Pubmed: Pubtator:	2404155	NM_005006.7(NDUFS1):c.631_633del (p.Glu211del)	4719	NDUFS1	Likely pathogenic		MedGen:CN517202	not provided	RCV003129181;	-1	2	207011731	207011733	NC_000002.11:g.207011731_207011733del	-	N	Feb 24, 2023	criteria provided, single submitter	1
70. Pubmed: Pubtator:	210747	NM_005006.7(NDUFS1):c.589ACA[1] (p.Thr198del)	4719	NDUFS1	Likely pathogenic		MedGen:CN517202	not provided	RCV000200139;	863224100	2	207011770	207011772	NC_000002.11:g.207011771GTT[1]	ClinGen:CA324697	N	Sep 09, 2014	criteria provided, single submitter	1
71. Pubmed: Pubtator:	790158	NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)	4719	NDUFS1	Likely pathogenic		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Leigh syndrome	RCV000986985;	747249702	2	207012288	207012288	2:g.207012288A>C	-	N	May 28, 2019	criteria provided, single submitter	1
72. Pubmed: Pubtator:	1339893	NM_005006.7(NDUFS1):c.338+1G>A	4719	NDUFS1	Likely pathogenic		MedGen:C3661900	not provided	RCV001999700;	2105976883	2	207013743	207013743	207013743	-	N	Dec 02, 2021	criteria provided, single submitter	1
73. Pubmed: Pubtator:	1936353	NM_005006.7(NDUFS1):c.228G>T (p.Arg76Ser)	4719	NDUFS1	Likely pathogenic		MedGen:C3661900	not provided	RCV002512017;	-1	2	207014575	207014575	NC_000002.11:g.207014575C>A	-	N	Dec 01, 2022	criteria provided, single submitter	1
74. Pubmed: Pubtator:	1183092	NM_005006.7(NDUFS1):c.62-2A>G	4719	NDUFS1	Likely pathogenic		MedGen:C3661900	not provided	RCV001556121;	766908402	2	207017236	207017236	207017236	-	N	May 21, 2019	criteria provided, single submitter	1
75. Pubmed: Pubtator:	883452	NM_005006.7(NDUFS1):c.*426T>G	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001138693\|RCV001138694\|RCV001856776;	114402169	2	206988483	206988483	2:g.206988483A>C	-	N	Aug 30, 2021	criteria provided, conflicting interpretations	2
76. Pubmed: Pubtator:	883453	NM_005006.7(NDUFS1):c.*341A>G	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV001141270\|RCV001141271\|RCV001786443;	150214409	2	206988568	206988568	2:g.206988568T>C	-	N	May 29, 2021	criteria provided, conflicting interpretations	2
77. Pubmed: Pubtator:	883456	NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn)	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MeSH:D030342,MedGen:C0950123	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|Inborn genetic diseases	RCV001136552\|RCV001136551\|RCV002558295;	769276632	2	206991484	206991484	2:g.206991484C>T	-	N	Sep 13, 2022	criteria provided, conflicting interpretations	2
78. Pubmed: 21203893 Pubtator: 21203893	40569	NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)	4719	NDUFS1	Conflicting interpretations of pathogenicity	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000024604\|RCV001582499;	387907199	2	206992622	206992622	2:g.206992622T>C	ClinGen:CA129896,OMIM:157655.0005	N	Jun 06, 2023	criteria provided, conflicting interpretations	3
79. Pubmed: Pubtator:	210738	NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val)	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000198251\|RCV002515412;	147685849	2	206994821	206994821	2:g.206994821T>C	ClinGen:CA322758	N	Aug 16, 2022	criteria provided, conflicting interpretations	2
80. Pubmed: Pubtator:	210741	NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met)	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:C3661900\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MeSH:D030342,MedGen:C0950123	not provided\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|Inborn genetic diseases	RCV000195446\|RCV001138792\|RCV001138793\|RCV002515413;	201806038	2	206994920	206994920	2:g.206994920C>T	ClinGen:CA319780	N	Mar 20, 2023	criteria provided, conflicting interpretations	5
81. Pubmed: 25741868 Pubtator: 25741868	142182	NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	4719	NDUFS1	Conflicting interpretations of pathogenicity	C1838979 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:506	not specified\|not provided\|Mitochondrial complex I deficiency\|Mitochondrial complex I deficiency, nuclear type 1\|Mitochondrial complex 1 deficiency, nuclear type 5\|Leigh syndrome	RCV000195297\|RCV000513877\|RCV000605317\|RCV001143218\|RCV001282631\|RCV001143217;	78042826	2	207003310	207003310	2:g.207003310G>C	ClinGen:CA232547	N	Aug 01, 2023	criteria provided, conflicting interpretations	11
82. Pubmed: Pubtator:	790155	NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN517202	Leigh syndrome\|not provided	RCV000986982\|RCV001858657;	776114731	2	207006671	207006671	2:g.207006671C>T	-	N	Dec 02, 2021	criteria provided, conflicting interpretations	2
83. Pubmed: 20382551 Pubtator: 20382551	65583	NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)	4719	NDUFS1	Conflicting interpretations of pathogenicity	C1838979 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 condition	RCV000043636\|RCV000492968\|RCV003430654;	149271416	2	207006705	207006705	2:g.207006705G>A	ClinGen:CA143873,OMIM:157655.0008	N	Nov 20, 2022	criteria provided, conflicting interpretations	4
84. Pubmed: Pubtator:	366901	NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=)	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:CN169374\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	not specified\|Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV000429059\|RCV001143219\|RCV001143220\|RCV001512828;	112026097	2	207007481	207007481	2:g.207007481G>A	ClinGen:CA2070575	N	Oct 24, 2022	criteria provided, conflicting interpretations	3
85. Pubmed: Pubtator:	883462	NM_005006.7(NDUFS1):c.768G>A (p.Ala256=)	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV001136655\|RCV001136656\|RCV002556902;	148726142	2	207009720	207009720	2:g.207009720C>T	-	N	Jul 23, 2022	criteria provided, conflicting interpretations	2
86. Pubmed: Pubtator:	499486	NM_005006.7(NDUFS1):c.738-20A>T	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:CN169374\|MedGen:CN517202	not specified\|not provided	RCV000610469\|RCV002531160;	200128097	2	207009770	207009770	2:g.207009770T>A	ClinGen:CA2070671	N	Jul 04, 2022	criteria provided, conflicting interpretations	2
87. Pubmed: 25741868 Pubtator: 25741868	438997	NM_005006.7(NDUFS1):c.738-20A>G	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN517202 not provided;	MedGen:C3661900	not provided	RCV000514667;	200128097	2	207009770	207009770	2:g.207009770T>C	ClinGen:CA2070670	N	Oct 25, 2022	criteria provided, conflicting interpretations	2
88. Pubmed: Pubtator:	366321	NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr)	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	not specified\|Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV000419653\|RCV001138898\|RCV001138899\|RCV002061445;	148544177	2	207011753	207011753	2:g.207011753A>G	ClinGen:CA2070717	N	Sep 09, 2022	criteria provided, conflicting interpretations	3
89. Pubmed: Pubtator:	1318517	NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)	4719	NDUFS1	Conflicting interpretations of pathogenicity		MedGen:C3661900	not provided	RCV001794840;	759656684	2	207012304	207012304	207012304	-	N	Aug 10, 2022	criteria provided, conflicting interpretations	2
90. Pubmed: Pubtator:	210750	NM_005006.7(NDUFS1):c.253G>A (p.Ala85Thr)	4719	NDUFS1	Conflicting interpretations of pathogenicity	CN169374 not specified;	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	not specified\|Inborn genetic diseases	RCV000199979\|RCV003362722;	774069983	2	207014550	207014550	2:g.207014550C>T	ClinGen:CA324527	N	Jul 19, 2023	criteria provided, conflicting interpretations	2
91. Pubmed: Pubtator:	883466	NM_005006.7(NDUFS1):c.63T>C (p.Val21=)	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001143331\|RCV001143332\|RCV002070724;	756632601	2	207017233	207017233	2:g.207017233A>G	-	N	Nov 18, 2021	criteria provided, conflicting interpretations	2
92. Pubmed: Pubtator:	883471	NM_005006.7(NDUFS1):c.-64T>C	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001138991\|RCV001138992;	145023130	2	207024124	207024124	2:g.207024124A>G	-	N	Apr 27, 2017	criteria provided, conflicting interpretations	1
93. Pubmed: Pubtator:	883473	NM_005006.7(NDUFS1):c.-75A>G	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001138995\|RCV001138996\|RCV003438669;	138818421	2	207024135	207024135	2:g.207024135T>C	-	N	Jan 01, 2023	criteria provided, conflicting interpretations	2
94. Pubmed: Pubtator:	883474	NM_005006.7(NDUFS1):c.-76G>A	4719	NDUFS1	Conflicting interpretations of pathogenicity		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001141606\|RCV001141607\|RCV001786444;	116137442	2	207024136	207024136	2:g.207024136C>T	-	N	May 26, 2021	criteria provided, conflicting interpretations	2
95. Pubmed: Pubtator:	2089316	NM_005006.7(NDUFS1):c.2093-4T>A	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002894328;	-1	2	206989004	206989004	NC_000002.11:g.206989004A>T	-	N	Sep 12, 2022	criteria provided, single submitter	1
96. Pubmed: Pubtator:	2050740	NM_005006.7(NDUFS1):c.2093-8T>C	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002814935;	-1	2	206989008	206989008	NC_000002.11:g.206989008A>G	-	N	May 25, 2022	criteria provided, single submitter	1
97. Pubmed: Pubtator:	1203657	NM_005006.7(NDUFS1):c.2093-54T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001581813;	76839943	2	206989054	206989054	206989054	-	N	Nov 09, 2018	criteria provided, single submitter	1
98. Pubmed: Pubtator:	2190247	NM_005006.7(NDUFS1):c.2058A>G (p.Pro686=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV003040992;	-1	2	206991297	206991297		-	N	May 04, 2022	criteria provided, single submitter	1
99. Pubmed: Pubtator:	1561315	NM_005006.7(NDUFS1):c.2028C>T (p.Asn676=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002104214;	768984620	2	206991327	206991327	206991327	-	N	Oct 31, 2022	criteria provided, multiple submitters, no conflicts	2
100. Pubmed: Pubtator:	1536987	NM_005006.7(NDUFS1):c.2019+11G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002215410;	1226748515	2	206991423	206991423	206991423	-	N	Oct 06, 2022	criteria provided, single submitter	1
101. Pubmed: Pubtator:	1639211	NM_005006.7(NDUFS1):c.2019+10C>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002152617;	756276722	2	206991424	206991424	206991424	-	N	Jan 25, 2022	criteria provided, single submitter	1
102. Pubmed: Pubtator:	2087364	NM_005006.7(NDUFS1):c.1995C>T (p.Phe665=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002852941;	-1	2	206991458	206991458		-	N	Aug 10, 2022	criteria provided, single submitter	1
103. Pubmed: Pubtator:	2068711	NM_005006.7(NDUFS1):c.1968T>C (p.Tyr656=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002835084;	-1	2	206991485	206991485		-	N	Jul 12, 2022	criteria provided, single submitter	1
104. Pubmed: Pubtator:	1583976	NM_005006.7(NDUFS1):c.1885-18G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002208102;	1256103671	2	206991586	206991586	206991586	-	N	Feb 05, 2022	criteria provided, single submitter	1
105. Pubmed: Pubtator:	1186364	NM_005006.7(NDUFS1):c.1884+247A>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001560870;	143445435	2	206992274	206992274	206992274	-	N	Jul 07, 2018	criteria provided, single submitter	1
106. Pubmed: Pubtator:	1186365	NM_005006.7(NDUFS1):c.1884+164T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001562906;	113707646	2	206992357	206992357	206992357	-	N	Nov 09, 2018	criteria provided, single submitter	1
107. Pubmed: Pubtator:	2050705	NM_005006.7(NDUFS1):c.1881T>C (p.Ser627=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002796979;	-1	2	206992524	206992524		-	N	Sep 07, 2022	criteria provided, single submitter	1
108. Pubmed: Pubtator:	2819511	NM_005006.7(NDUFS1):c.1830G>A (p.Val610=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV003440140;	-1	2	206992575	206992575		-	N	May 01, 2023	criteria provided, single submitter	1
109. Pubmed: Pubtator:	1545448	NM_005006.7(NDUFS1):c.1785A>G (p.Thr595=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002121577;	757544175	2	206992620	206992620	206992620	-	N	Jul 05, 2022	criteria provided, single submitter	1
110. Pubmed: Pubtator:	2038075	NM_005006.7(NDUFS1):c.1743T>C (p.Asp581=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002775166;	-1	2	206992662	206992662		-	N	May 09, 2022	criteria provided, single submitter	1
111. Pubmed: Pubtator:	1526858	NM_005006.7(NDUFS1):c.1709-12A>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002166280;	986629183	2	206992708	206992708	206992708	-	N	Jul 26, 2022	criteria provided, single submitter	1
112. Pubmed: Pubtator:	1214147	NM_005006.7(NDUFS1):c.1709-288C>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001596668;	151271531	2	206992984	206992984	206992984	-	N	Jul 09, 2018	criteria provided, single submitter	1
113. Pubmed: Pubtator:	499484	NM_005006.7(NDUFS1):c.1708+19A>G	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374\|MedGen:CN517202	not specified\|not provided	RCV000612335\|RCV002063290;	1171270909	2	206994793	206994793	2:g.206994793T>C	ClinGen:CA658796148	N	Nov 22, 2021	criteria provided, multiple submitters, no conflicts	2
114. Pubmed: Pubtator:	366888	NM_005006.7(NDUFS1):c.1668A>G (p.Thr556=)	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000442706;	1057521895	2	206994852	206994852	2:g.206994852T>C	ClinGen:CA16604352	N	Mar 21, 2016	criteria provided, single submitter	1
115. Pubmed: Pubtator:	2122966	NM_005006.7(NDUFS1):c.1641C>T (p.Leu547=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002975697;	-1	2	206994879	206994879		-	N	Jan 03, 2022	criteria provided, single submitter	1
116. Pubmed: Pubtator:	1170877	NM_005006.7(NDUFS1):c.1554-116_1554-115del	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001541396;	537369972	2	206995081	206995082	206995080	-	N	Jul 11, 2018	criteria provided, single submitter	1
117. Pubmed: Pubtator:	658039	NM_005006.7(NDUFS1):c.1554-181_1554-157del	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV000832489;	567565939	2	206995123	206995147	2:g.206995123_206995147del	-	N	Jun 14, 2018	criteria provided, single submitter	1
118. Pubmed: Pubtator:	1176087	NM_005006.7(NDUFS1):c.1553+132A>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001548308;	147702552	2	206997537	206997537	206997537	-	N	Jun 28, 2018	criteria provided, single submitter	1
119. Pubmed: Pubtator:	1646596	NM_005006.7(NDUFS1):c.1548T>C (p.Leu516=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002149817;	2105952606	2	206997674	206997674	206997674	-	N	Sep 18, 2021	criteria provided, single submitter	1
120. Pubmed: Pubtator:	1922474	NM_005006.7(NDUFS1):c.1416A>G (p.Pro472=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002611872;	-1	2	206997806	206997806		-	N	Sep 01, 2022	criteria provided, multiple submitters, no conflicts	2
121. Pubmed: Pubtator:	1957723	NM_005006.7(NDUFS1):c.1393-18del	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002586420;	-1	2	206997847	206997847	NC_000002.11:g.206997847del	-	N	Aug 16, 2022	criteria provided, single submitter	1
122. Pubmed: Pubtator:	1960565	NM_005006.7(NDUFS1):c.1393-18G>T	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002576616;	-1	2	206997847	206997847	NC_000002.11:g.206997847C>A	-	N	Aug 01, 2022	criteria provided, single submitter	1
123. Pubmed: Pubtator:	1205578	NM_005006.7(NDUFS1):c.1393-129G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001585479;	142516916	2	206997958	206997958	206997958	-	N	Oct 05, 2018	criteria provided, single submitter	1
124. Pubmed: Pubtator:	1189787	NM_005006.7(NDUFS1):c.1393-298A>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001565157;	73067813	2	206998127	206998127	206998127	-	N	Nov 09, 2018	criteria provided, single submitter	1
125. Pubmed: 25741868 Pubtator: 25741868	250510	NM_005006.7(NDUFS1):c.1392+19T>C	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000249702;	770145746	2	207003190	207003190	2:g.207003190A>G	ClinGen:CA2070470	N	-	criteria provided, single submitter	1
126. Pubmed: Pubtator:	1601589	NM_005006.7(NDUFS1):c.1392+18G>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002158027;	369413349	2	207003191	207003191	207003191	-	N	Oct 22, 2021	criteria provided, single submitter	1
127. Pubmed: Pubtator:	1196805	NM_005006.7(NDUFS1):c.1262+325C>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001576525;	140719175	2	207006340	207006340	207006340	-	N	Aug 03, 2018	criteria provided, single submitter	1
128. Pubmed: Pubtator:	1675757	NM_005006.7(NDUFS1):c.1262+143G>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002244348;	1286980897	2	207006522	207006522	207006522	-	N	Oct 28, 2021	criteria provided, single submitter	1
129. Pubmed: Pubtator:	2141266	NM_005006.7(NDUFS1):c.1197T>C (p.Val399=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002976145;	-1	2	207006730	207006730		-	N	Oct 13, 2022	criteria provided, single submitter	1
130. Pubmed: Pubtator:	658155	NM_005006.7(NDUFS1):c.1134-15A>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV000835101;	201078641	2	207006808	207006808	2:g.207006808T>C	-	N	May 21, 2018	criteria provided, single submitter	1
131. Pubmed: Pubtator:	658178	NM_005006.7(NDUFS1):c.1133+194C>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV000832488;	113010771	2	207007216	207007216	2:g.207007216G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
132. Pubmed: Pubtator:	1954036	NM_005006.7(NDUFS1):c.1133+11T>C	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002572675;	-1	2	207007399	207007399	NC_000002.11:g.207007399A>G	-	N	Sep 17, 2022	criteria provided, single submitter	1
133. Pubmed: Pubtator:	499923	NM_005006.7(NDUFS1):c.1014G>A (p.Val338=)	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000604356;	763080348	2	207007529	207007529	2:g.207007529C>T	ClinGen:CA2070581	N	Dec 11, 2017	criteria provided, single submitter	1
134. Pubmed: Pubtator:	1183091	NM_005006.7(NDUFS1):c.988-38G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001558477;	199619537	2	207007593	207007593	207007593	-	N	Jan 29, 2019	criteria provided, single submitter	1
135. Pubmed: Pubtator:	1179427	NM_005006.7(NDUFS1):c.987+188C>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001551229;	140829024	2	207008554	207008554	207008554	-	N	Jul 15, 2018	criteria provided, single submitter	1
136. Pubmed: Pubtator:	1209490	NM_005006.7(NDUFS1):c.987+181A>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001588601;	76391030	2	207008561	207008561	207008561	-	N	Jul 07, 2018	criteria provided, single submitter	1
137. Pubmed: Pubtator:	499485	NM_005006.7(NDUFS1):c.987+18dup	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000606385;	1212411871	2	207008723	207008724	NC_000002.11:g.207008724dup	ClinGen:CA539058052	N	Aug 25, 2017	criteria provided, single submitter	1
138. Pubmed: Pubtator:	1544806	NM_005006.7(NDUFS1):c.972T>G (p.Ser324=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002177069;	541789299	2	207008757	207008757	207008757	-	N	Dec 03, 2021	criteria provided, single submitter	1
139. Pubmed: Pubtator:	1559630	NM_005006.7(NDUFS1):c.966G>A (p.Ala322=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002213345;	1127566	2	207008763	207008763	207008763	-	N	Aug 10, 2022	criteria provided, single submitter	1
140. Pubmed: Pubtator:	366313	NM_005006.7(NDUFS1):c.933A>G (p.Lys311=)	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000423269;	1057523041	2	207008796	207008796	2:g.207008796T>C	ClinGen:CA16604100	N	Aug 09, 2016	criteria provided, single submitter	1
141. Pubmed: Pubtator:	1532010	NM_005006.7(NDUFS1):c.909C>T (p.Thr303=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002077703;	564576152	2	207008820	207008820	207008820	-	N	Dec 02, 2021	criteria provided, single submitter	1
142. Pubmed: Pubtator:	366317	NM_005006.7(NDUFS1):c.873-9G>A	4719	NDUFS1	Likely benign	CN517202 not provided;	MedGen:C3661900	not provided	RCV000676274;	180899908	2	207008865	207008865	2:g.207008865C>T	ClinGen:CA2070629	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	3
143. Pubmed: Pubtator:	2074441	NM_005006.7(NDUFS1):c.872+12A>G	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002843274;	-1	2	207009604	207009604	NC_000002.11:g.207009604T>C	-	N	Jul 01, 2022	criteria provided, single submitter	1
144. Pubmed: Pubtator:	2143331	NM_005006.7(NDUFS1):c.872+10A>T	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV003008952;	-1	2	207009606	207009606	NC_000002.11:g.207009606T>A	-	N	Apr 10, 2022	criteria provided, single submitter	1
145. Pubmed: Pubtator:	1581596	NM_005006.7(NDUFS1):c.780T>C (p.Asn260=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002071300;	1236405276	2	207009708	207009708	207009708	-	N	Dec 02, 2021	criteria provided, single submitter	1
146. Pubmed: Pubtator:	1650505	NM_005006.7(NDUFS1):c.738-15G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002118826;	376871054	2	207009765	207009765	207009765	-	N	Oct 09, 2022	criteria provided, single submitter	1
147. Pubmed: Pubtator:	1585141	NM_005006.7(NDUFS1):c.666C>T (p.Ile222=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002083097;	906676893	2	207011698	207011698	207011698	-	N	Sep 01, 2022	criteria provided, single submitter	1
148. Pubmed: Pubtator:	1888204	NM_005006.7(NDUFS1):c.654G>A (p.Leu218=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV003083497;	-1	2	207011710	207011710		-	N	Jun 19, 2022	criteria provided, single submitter	1
149. Pubmed: Pubtator:	499881	NM_005006.7(NDUFS1):c.636G>A (p.Lys212=)	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000614581;	1553506702	2	207011728	207011728	2:g.207011728C>T	ClinGen:CA430955000	N	Jan 23, 2017	criteria provided, single submitter	1
150. Pubmed: Pubtator:	1900100	NM_005006.7(NDUFS1):c.570A>G (p.Ala190=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV003088846;	-1	2	207011794	207011794		-	N	Mar 08, 2022	criteria provided, single submitter	1
151. Pubmed: Pubtator:	1624439	NM_005006.7(NDUFS1):c.552-19C>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002150522;	372509597	2	207011831	207011831	207011831	-	N	Aug 18, 2022	criteria provided, single submitter	1
152. Pubmed: Pubtator:	499924	NM_005006.7(NDUFS1):c.551+10T>G	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000616790;	1553506824	2	207012245	207012245	2:g.207012245A>C	ClinGen:CA658796149	N	Jan 31, 2017	criteria provided, single submitter	1
153. Pubmed: Pubtator:	1948587	NM_005006.7(NDUFS1):c.460T>C (p.Leu154=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV003118421;	-1	2	207012346	207012346		-	N	Mar 11, 2022	criteria provided, single submitter	1
154. Pubmed: Pubtator:	1526784	NM_005006.7(NDUFS1):c.421-20T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002084422;	2105975076	2	207012405	207012405	207012405	-	N	Nov 15, 2021	criteria provided, single submitter	1
155. Pubmed: Pubtator:	1998830	NM_005006.7(NDUFS1):c.420+7A>G	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002680735;	-1	2	207012470	207012470	NC_000002.11:g.207012470T>C	-	N	Jul 23, 2022	criteria provided, single submitter	1
156. Pubmed: Pubtator:	366075	NM_005006.7(NDUFS1):c.348G>A (p.Val116=)	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:C3661900	not provided	RCV001703628;	145868302	2	207012549	207012549	2:g.207012549C>T	ClinGen:CA2070798	N	Oct 04, 2022	criteria provided, multiple submitters, no conflicts	2
157. Pubmed: Pubtator:	1189788	NM_005006.7(NDUFS1):c.338+153T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001567766;	73067838	2	207013591	207013591	207013591	-	N	Nov 09, 2018	criteria provided, single submitter	1
158. Pubmed: Pubtator:	1943377	NM_005006.7(NDUFS1):c.297T>G (p.Gly99=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV003108771;	-1	2	207013785	207013785		-	N	Sep 01, 2022	criteria provided, single submitter	1
159. Pubmed: 28492532 Pubtator: 28492532	777173	NM_005006.7(NDUFS1):c.262-10G>T	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV000953702;	1226322923	2	207013830	207013830	2:g.207013830C>A	-	N	Jun 14, 2017	criteria provided, single submitter	1
160. Pubmed: Pubtator:	1189789	NM_005006.7(NDUFS1):c.262-150A>G	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001568059;	56269407	2	207013970	207013970	207013970	-	N	Nov 27, 2018	criteria provided, single submitter	1
161. Pubmed: Pubtator:	1200523	NM_005006.7(NDUFS1):c.261+179_261+182del	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001581246;	201391235	2	207014360	207014363	207014359	-	N	Jul 07, 2018	criteria provided, single submitter	1
162. Pubmed: Pubtator:	1588611	NM_005006.7(NDUFS1):c.261+9T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002188686;	1021889090	2	207014533	207014533	207014533	-	N	Aug 08, 2022	criteria provided, single submitter	1
163. Pubmed: Pubtator:	2131476	NM_005006.7(NDUFS1):c.154-10_154-5del	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002985512;	-1	2	207014654	207014659	NC_000002.11:g.207014656_207014661del	-	N	Feb 23, 2022	criteria provided, single submitter	1
164. Pubmed: 28492532 Pubtator: 28492532	777235	NM_005006.7(NDUFS1):c.154-23_154-9dup	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV000953446;	568965659	2	207014657	207014658	2:g.207014657_207014658insAAAAAAAAAAAAAAA	-	N	Jun 14, 2017	criteria provided, single submitter	1
165. Pubmed: Pubtator:	549891	NM_005006.7(NDUFS1):c.154-9del	4719	NDUFS1	Likely benign	CN517202 not provided;	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|not specified\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000676279\|RCV001700445\|RCV002493117;	568965659	2	207014658	207014658	NC_000002.11:g.207014682del	-	N	Sep 02, 2021	criteria provided, multiple submitters, no conflicts	6
166. Pubmed: Pubtator:	1541947	NM_005006.7(NDUFS1):c.154-20_154-9del	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002116759;	568965659	2	207014658	207014669	207014657	-	N	Jan 11, 2022	criteria provided, single submitter	1
167. Pubmed: Pubtator:	1274323	NM_005006.7(NDUFS1):c.154-13_154-9del	4719	NDUFS1	Likely benign		MedGen:CN169374\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not specified\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV001699730\|RCV002503153;	568965659	2	207014658	207014662	207014657	-	N	Oct 13, 2021	criteria provided, single submitter	3
168. Pubmed: Pubtator:	366909	NM_005006.7(NDUFS1):c.154-15T>C	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN517202	not provided	RCV001703522;	79370882	2	207014664	207014664	2:g.207014664A>G	ClinGen:CA2070870	N	Oct 25, 2022	criteria provided, multiple submitters, no conflicts	2
169. Pubmed: Pubtator:	1536041	NM_005006.7(NDUFS1):c.154-16T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002144327;	758492212	2	207014665	207014665	207014665	-	N	Sep 12, 2022	criteria provided, single submitter	1
170. Pubmed: Pubtator:	1112134	NM_005006.7(NDUFS1):c.154-17T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001454077;	777865738	2	207014666	207014666	207014666	-	N	Oct 24, 2022	criteria provided, single submitter	1
171. Pubmed: Pubtator:	1617525	NM_005006.7(NDUFS1):c.154-18T>C	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV002114552;	752010425	2	207014667	207014667	207014667	-	N	Oct 17, 2022	criteria provided, single submitter	1
172. Pubmed: Pubtator:	366322	NM_005006.7(NDUFS1):c.154-19T>C	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000425814;	757724566	2	207014668	207014668	2:g.207014668A>G	ClinGen:CA2070874	N	Feb 03, 2016	criteria provided, single submitter	1
173. Pubmed: Pubtator:	1189791	NM_005006.7(NDUFS1):c.154-126TAGA[12]	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001565500;	3217140	2	207014747	207014748	207014747	-	N	Jul 07, 2018	criteria provided, single submitter	1
174. Pubmed: Pubtator:	658045	NM_005006.7(NDUFS1):c.154-291G>A	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV000832487;	115932219	2	207014940	207014940	2:g.207014940C>T	-	N	Jun 14, 2018	criteria provided, single submitter	1
175. Pubmed: Pubtator:	366327	NM_005006.7(NDUFS1):c.153+9A>G	4719	NDUFS1	Likely benign	CN517202 not provided;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000444343\|RCV000676280;	200675161	2	207017134	207017134	2:g.207017134T>C	ClinGen:CA2070894	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	3
176. Pubmed: Pubtator:	2126991	NM_005006.7(NDUFS1):c.78A>G (p.Thr26=)	4719	NDUFS1	Likely benign		MedGen:CN517202	not provided	RCV002967471;	-1	2	207017218	207017218		-	N	Jan 04, 2022	criteria provided, single submitter	1
177. Pubmed: Pubtator:	1186366	NM_005006.7(NDUFS1):c.62-243C>T	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001562446;	149580828	2	207017477	207017477	207017477	-	N	Jun 26, 2018	criteria provided, single submitter	1
178. Pubmed: Pubtator:	1244842	NM_005006.7(NDUFS1):c.12A>C (p.Ile4=)	4719	NDUFS1	Likely benign		MedGen:C3661900	not provided	RCV001659091;	749130410	2	207018391	207018391	207018391	-	N	Jan 26, 2021	criteria provided, single submitter	1
179. Pubmed: Pubtator:	499487	NM_005006.7(NDUFS1):c.-5+18T>C	4719	NDUFS1	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000603683;	1386824414	2	207024047	207024047	2:g.207024047A>G	ClinGen:CA539059524	N	Oct 19, 2017	criteria provided, single submitter	1
180. Pubmed: Pubtator:	883450	NM_005006.7(NDUFS1):c.*574T>G	4719	NDUFS1	Benign/Likely benign		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV001138267\|RCV001138268\|RCV001796372;	73065790	2	206988335	206988335	2:g.206988335A>C	-	N	May 24, 2021	criteria provided, multiple submitters, no conflicts	2
181. Pubmed: Pubtator:	883455	NM_005006.7(NDUFS1):c.*53T>G	4719	NDUFS1	Benign/Likely benign		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:C3661900	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001143110\|RCV001143109\|RCV001552479;	116335919	2	206988856	206988856	2:g.206988856A>C	-	N	Jul 09, 2018	criteria provided, multiple submitters, no conflicts	2
182. Pubmed: Pubtator:	887243	NM_005006.7(NDUFS1):c.1393-7T>A	4719	NDUFS1	Benign/Likely benign		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001141371\|RCV001141370\|RCV001510839;	200409285	2	206997836	206997836	2:g.206997836A>T	-	N	Sep 07, 2022	criteria provided, multiple submitters, no conflicts	3
183. Pubmed: Pubtator:	366072	NM_005006.7(NDUFS1):c.1262+17A>G	4719	NDUFS1	Benign/Likely benign	CN169374 not specified;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000439296\|RCV002061446;	144695826	2	207006648	207006648	2:g.207006648T>C	ClinGen:CA2070514	N	Sep 01, 2022	criteria provided, multiple submitters, no conflicts	2
184. Pubmed: Pubtator:	142180	NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=)	4719	NDUFS1	Benign/Likely benign	CN517202 not provided;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000127142\|RCV000676272;	72944827	2	207007514	207007514	2:g.207007514A>C	ClinGen:CA292486	N	Nov 01, 2023	criteria provided, multiple submitters, no conflicts	4
185. Pubmed: Pubtator:	1189790	NM_005006.7(NDUFS1):c.154-33dup	4719	NDUFS1	Benign/Likely benign		MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV001566492\|RCV002506670;	568965659	2	207014657	207014658	207014657	-	N	Dec 21, 2021	criteria provided, multiple submitters, no conflicts	2
186. Pubmed: Pubtator:	658032	NM_005006.7(NDUFS1):c.2093-170G>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843218;	2045858	2	206989170	206989170	2:g.206989170C>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
187. Pubmed: Pubtator:	658036	NM_005006.7(NDUFS1):c.2092+279T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843198;	4147727	2	206990984	206990984	2:g.206990984A>G	-	N	Jun 14, 2018	criteria provided, single submitter	1
188. Pubmed: Pubtator:	1231747	NM_005006.7(NDUFS1):c.2092+149A>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001648054;	10184125	2	206991114	206991114	206991114	-	N	Jul 09, 2018	criteria provided, single submitter	1
189. Pubmed: Pubtator:	142184	NM_005006.7(NDUFS1):c.2019+18A>T	4719	NDUFS1	Benign	CN169374 not specified;	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not specified\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000127146\|RCV001523381\|RCV001803002;	55793630	2	206991416	206991416	2:g.206991416T>A	ClinGen:CA292491	N	Nov 02, 2022	criteria provided, multiple submitters, no conflicts	3
190. Pubmed: Pubtator:	1221935	NM_005006.7(NDUFS1):c.1884+150C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001616731;	4147726	2	206992371	206992371	206992371	-	N	Jun 23, 2018	criteria provided, single submitter	1
191. Pubmed: Pubtator:	658163	NM_005006.7(NDUFS1):c.1709-291A>G	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000828591;	12472329	2	206992987	206992987	2:g.206992987T>C	-	N	Jun 14, 2018	criteria provided, single submitter	1
192. Pubmed: Pubtator:	1281218	NM_005006.7(NDUFS1):c.1554-44T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001713375;	4147725	2	206995010	206995010	206995010	-	N	Jun 23, 2018	criteria provided, single submitter	1
193. Pubmed: Pubtator:	1257573	NM_005006.7(NDUFS1):c.1554-123AAAAT[5]	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001675246;	201269060	2	206995069	206995070	206995069	-	N	Jul 09, 2018	criteria provided, single submitter	1
194. Pubmed: Pubtator:	1247127	NM_005006.7(NDUFS1):c.1554-152C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001665896;	10185164	2	206995118	206995118	206995118	-	N	Jul 09, 2018	criteria provided, single submitter	1
195. Pubmed: Pubtator:	658164	NM_005006.7(NDUFS1):c.1554-173G>T	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000843197;	3770987	2	206995139	206995139	2:g.206995139C>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
196. Pubmed: Pubtator:	658167	NM_005006.7(NDUFS1):c.1554-274C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843194;	4147723	2	206995240	206995240	2:g.206995240G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
197. Pubmed: Pubtator:	658147	NM_005006.7(NDUFS1):c.1553+250C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843193;	4147721	2	206997419	206997419	2:g.206997419G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
198. Pubmed: Pubtator:	1251462	NM_005006.7(NDUFS1):c.1553+24T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001674133;	10170850	2	206997645	206997645	206997645	-	N	Jul 09, 2018	criteria provided, single submitter	1
199. Pubmed: Pubtator:	1153957	NM_005006.7(NDUFS1):c.1393-17dup	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001517780;	760292289	2	206997835	206997836	206997835	-	N	Oct 24, 2022	criteria provided, single submitter	1
200. Pubmed: Pubtator:	658169	NM_005006.7(NDUFS1):c.1393-221T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843190;	4147720	2	206998050	206998050	2:g.206998050A>G	-	N	Jun 14, 2018	criteria provided, single submitter	1
201. Pubmed: Pubtator:	1223579	NM_005006.7(NDUFS1):c.1392+249C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001617293;	6710464	2	207002960	207002960	207002960	-	N	Jul 09, 2018	criteria provided, single submitter	1
202. Pubmed: Pubtator:	1263941	NM_005006.7(NDUFS1):c.1263-101del	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001681855;	4147729	2	207003439	207003439	207003438	-	N	Jun 23, 2018	criteria provided, single submitter	1
203. Pubmed: Pubtator:	658171	NM_005006.7(NDUFS1):c.1263-333A>G	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000828590;	151123273	2	207003671	207003671	2:g.207003671T>C	-	N	Jun 14, 2018	criteria provided, single submitter	1
204. Pubmed: Pubtator:	658041	NM_005006.7(NDUFS1):c.1262+199C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000843189;	6435327	2	207006466	207006466	2:g.207006466G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
205. Pubmed: Pubtator:	1253475	NM_005006.7(NDUFS1):c.1262+126_1262+127dup	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001667403;	200961205	2	207006522	207006523	207006522	-	N	Aug 13, 2019	criteria provided, single submitter	1
206. Pubmed: Pubtator:	1225436	NM_005006.7(NDUFS1):c.1262+126dup	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001618951;	200961205	2	207006522	207006523	207006522	-	N	Aug 06, 2019	criteria provided, single submitter	1
207. Pubmed: Pubtator:	1281217	NM_005006.7(NDUFS1):c.1134-32G>T	4719	NDUFS1	Benign		MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV001713374\|RCV001779333;	4147718	2	207006825	207006825	207006825	-	N	Sep 05, 2021	criteria provided, multiple submitters, no conflicts	2
208. Pubmed: Pubtator:	1243392	NM_005006.7(NDUFS1):c.1133+284dup	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001663009;	199763518	2	207007125	207007126	207007125	-	N	Jul 07, 2018	criteria provided, single submitter	1
209. Pubmed: Pubtator:	658173	NM_005006.7(NDUFS1):c.1133+283G>A	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000842898;	4147717	2	207007127	207007127	2:g.207007127C>T	-	N	Jun 14, 2018	criteria provided, single submitter	1
210. Pubmed: Pubtator:	658174	NM_005006.7(NDUFS1):c.1133+233C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000828588;	4147716	2	207007177	207007177	2:g.207007177G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
211. Pubmed: Pubtator:	142181	NM_005006.7(NDUFS1):c.1133+20G>A	4719	NDUFS1	Benign	CN169374 not specified;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000127143\|RCV001523311;	6435328	2	207007390	207007390	2:g.207007390C>T	ClinGen:CA292488	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	2
212. Pubmed: Pubtator:	1283044	NM_005006.7(NDUFS1):c.988-91G>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001717450;	7577536	2	207007646	207007646	207007646	-	N	Jul 09, 2018	criteria provided, single submitter	1
213. Pubmed: Pubtator:	1270207	NM_005006.7(NDUFS1):c.987+171_987+172insAG	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001695495;	35511947	2	207008570	207008571	207008570	-	N	Jul 09, 2018	criteria provided, single submitter	1
214. Pubmed: Pubtator:	1266965	NM_005006.7(NDUFS1):c.987+66_987+67insA	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001690401;	35409448	2	207008675	207008676	207008675	-	N	Jun 23, 2018	criteria provided, single submitter	1
215. Pubmed: Pubtator:	1250266	NM_005006.7(NDUFS1):c.872+255T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001673879;	10190619	2	207009361	207009361	207009361	-	N	Jul 09, 2018	criteria provided, single submitter	1
216. Pubmed: Pubtator:	1237797	NM_005006.7(NDUFS1):c.738-157G>A	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001651918;	12465229	2	207009907	207009907	207009907	-	N	Jul 07, 2018	criteria provided, single submitter	1
217. Pubmed: Pubtator:	1219880	NM_005006.7(NDUFS1):c.738-254G>A	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001612261;	11886004	2	207010004	207010004	207010004	-	N	Jul 09, 2018	criteria provided, single submitter	1
218. Pubmed: Pubtator:	1263839	NM_005006.7(NDUFS1):c.737+232T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001682540;	7598779	2	207011395	207011395	207011395	-	N	Jul 09, 2018	criteria provided, single submitter	1
219. Pubmed: Pubtator:	1251193	NM_005006.7(NDUFS1):c.552-206A>G	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001674861;	12465764	2	207012018	207012018	207012018	-	N	Jul 07, 2018	criteria provided, single submitter	1
220. Pubmed: Pubtator:	1276007	NM_005006.7(NDUFS1):c.551+221T>C	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001709945;	75610165	2	207012034	207012034	207012034	-	N	Jun 26, 2018	criteria provided, single submitter	1
221. Pubmed: Pubtator:	405544	NM_005006.7(NDUFS1):c.339-20_339-19del	4719	NDUFS1	Benign		MedGen:CN169374\|MedGen:CN517202	not specified\|not provided	RCV000480716\|RCV001523542;	111667100	2	207012577	207012578	NC_000002.11:g.207012578TA[1]	ClinGen:CA2070802	N	Nov 01, 2022	criteria provided, multiple submitters, no conflicts	2
222. Pubmed: Pubtator:	1252620	NM_005006.7(NDUFS1):c.339-90_339-86del	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001669944;	66550464	2	207012644	207012648	207012643	-	N	Aug 09, 2019	criteria provided, single submitter	1
223. Pubmed: Pubtator:	658042	NM_005006.7(NDUFS1):c.261+201_261+202dup	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000842895;	3217139	2	207014339	207014340	2:g.207014339_207014340insAC	-	N	Jun 14, 2018	criteria provided, single submitter	1
224. Pubmed: 28492532 Pubtator: 28492532	777231	NM_005006.7(NDUFS1):c.154-27_154-9dup	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000950385;	568965659	2	207014657	207014658	2:g.207014657_207014658insAAAAAAAAAAAAAAAAAAA	-	N	Jun 08, 2017	criteria provided, single submitter	1
225. Pubmed: 28492532 Pubtator: 28492532	777232	NM_005006.7(NDUFS1):c.154-14_154-9dup	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000959835;	568965659	2	207014657	207014658	2:g.207014657_207014658insAAAAAA	-	N	Jun 14, 2017	criteria provided, single submitter	1
226. Pubmed: 28492532 Pubtator: 28492532	777174	NM_005006.7(NDUFS1):c.154-25_154-9dup	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000951062;	568965659	2	207014657	207014658	2:g.207014657_207014658insAAAAAAAAAAAAAAAAA	-	N	Jun 26, 2018	criteria provided, single submitter	1
227. Pubmed: 28492532 Pubtator: 28492532	777177	NM_005006.7(NDUFS1):c.154-26_154-9dup	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000949250;	568965659	2	207014657	207014658	2:g.207014657_207014658insAAAAAAAAAAAAAAAAAA	-	N	May 24, 2017	criteria provided, single submitter	1
228. Pubmed: Pubtator:	265866	NM_005006.7(NDUFS1):c.154-11_154-9del	4719	NDUFS1	Benign	CN517202 not provided;	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not specified\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000306609\|RCV000676277\|RCV000999960;	568965659	2	207014658	207014660	2:g.207014658_207014660del	ClinGen:CA2070863	N	Oct 25, 2022	criteria provided, multiple submitters, no conflicts	4
229. Pubmed: 28492532 Pubtator: 28492532	549890	NM_005006.7(NDUFS1):c.154-12_154-9del	4719	NDUFS1	Benign	CN517202 not provided;	MedGen:CN517202	not provided	RCV000676278;	568965659	2	207014658	207014661	NC_000002.11:g.207014679_207014682del	-	N	Aug 09, 2019	criteria provided, multiple submitters, no conflicts	3
230. Pubmed: 28492532 Pubtator: 28492532	777223	NM_005006.7(NDUFS1):c.154-14_154-9del	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000958897;	568965659	2	207014658	207014663	2:g.207014658_207014663del	-	N	Aug 04, 2017	criteria provided, single submitter	1
231. Pubmed: 28492532 Pubtator: 28492532	777227	NM_005006.7(NDUFS1):c.154-15_154-9del	4719	NDUFS1	Benign		MedGen:CN517202	not provided	RCV000946664;	568965659	2	207014658	207014664	2:g.207014658_207014664del	-	N	May 08, 2017	criteria provided, single submitter	1
232. Pubmed: Pubtator:	657989	NM_005006.7(NDUFS1):c.154-126TAGA[8]	4719	NDUFS1	Benign		MedGen:CN517202\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	not provided\|Leigh syndrome	RCV000835483\|RCV000986986;	3217140	2	207014747	207014748	2:g.207014747_207014748insTCTA	-	N	May 28, 2019	criteria provided, multiple submitters, no conflicts	2
233. Pubmed: Pubtator:	1250002	NM_005006.7(NDUFS1):c.154-126TAGA[11]	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001673615;	3217140	2	207014747	207014748	207014747	-	N	Jun 23, 2018	criteria provided, single submitter	1
234. Pubmed: Pubtator:	1217504	NM_005006.7(NDUFS1):c.154-126TAGA[10]	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001608410;	3217140	2	207014747	207014748	207014747	-	N	Jun 26, 2018	criteria provided, single submitter	1
235. Pubmed: Pubtator:	658156	NM_005006.7(NDUFS1):c.154-126TAGA[9]	4719	NDUFS1	Benign		MedGen:CN517202\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	not provided\|Leigh syndrome	RCV000835247\|RCV000986987;	3217140	2	207014747	207014748	2:g.207014747_207014748insTCTATCTA	-	N	May 28, 2019	criteria provided, multiple submitters, no conflicts	2
236. Pubmed: Pubtator:	1220288	NM_005006.7(NDUFS1):c.154-156G>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001610272;	10168865	2	207014805	207014805	207014805	-	N	Jul 09, 2018	criteria provided, single submitter	1
237. Pubmed: Pubtator:	657993	NM_005006.7(NDUFS1):c.154-177_154-176insAG	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV000832908;	201233029	2	207014825	207014826	2:g.207014825_207014826insCT	-	N	Jun 14, 2018	criteria provided, single submitter	1
238. Pubmed: Pubtator:	1170878	NM_005006.7(NDUFS1):c.154-219C>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001539851;	10169038	2	207014868	207014868	207014868	-	N	Jul 09, 2018	criteria provided, single submitter	1
239. Pubmed: Pubtator:	1261244	NM_005006.7(NDUFS1):c.153+150G>T	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001679918;	13394330	2	207016993	207016993	207016993	-	N	Jul 09, 2018	criteria provided, single submitter	1
240. Pubmed: Pubtator:	1221968	NM_005006.7(NDUFS1):c.62-194del	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001616765;	71034411	2	207017428	207017428	207017427	-	N	Aug 06, 2019	criteria provided, single submitter	1
241. Pubmed: Pubtator:	1258410	NM_005006.7(NDUFS1):c.62-255G>A	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001685829;	144294296	2	207017489	207017489	207017489	-	N	Jul 09, 2018	criteria provided, single submitter	1
242. Pubmed: Pubtator:	1170879	NM_005006.7(NDUFS1):c.-4-251A>G	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001540308;	13414581	2	207018657	207018657	207018657	-	N	Jul 09, 2018	criteria provided, single submitter	1
243. Pubmed: Pubtator:	1286279	NM_005006.7(NDUFS1):c.-5+137G>A	4719	NDUFS1	Benign		MedGen:C3661900	not provided	RCV001720807;	115084621	2	207023928	207023928	207023928	-	N	May 26, 2021	criteria provided, single submitter	1
244. Pubmed: Pubtator:	883447	NM_005006.7(NDUFS1):c.*1077A>T	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV001141165\|RCV001141166;	917604810	2	206987832	206987832	2:g.206987832T>A	-	N	Jan 13, 2018	criteria provided, single submitter	1
245. Pubmed: Pubtator:	883448	NM_005006.7(NDUFS1):c.*938C>T	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001141167\|RCV001141168;	780498090	2	206987971	206987971	2:g.206987971G>A	-	N	Jan 13, 2018	criteria provided, single submitter	1
246. Pubmed: Pubtator:	883449	NM_005006.7(NDUFS1):c.*864G>A	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001143009\|RCV001143008;	1691159722	2	206988045	206988045	2:g.206988045C>T	-	N	Jan 12, 2018	criteria provided, single submitter	1
247. Pubmed: Pubtator:	883451	NM_005006.7(NDUFS1):c.*459A>G	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001138691\|RCV001138692;	1691173843	2	206988450	206988450	2:g.206988450T>C	-	N	Jan 12, 2018	criteria provided, single submitter	1
248. Pubmed: Pubtator:	883454	NM_005006.7(NDUFS1):c.*130A>C	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001143107\|RCV001143108;	200736574	2	206988779	206988779	2:g.206988779T>G	-	N	Jan 12, 2018	criteria provided, single submitter	1
249. Pubmed: Pubtator:	2003685	NM_005006.7(NDUFS1):c.2179T>C (p.Cys727Arg)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002653081;	-1	2	206988914	206988914	NC_000002.11:g.206988914A>G	-	N	Aug 22, 2022	criteria provided, single submitter	1
250. Pubmed: Pubtator:	1981548	NM_005006.7(NDUFS1):c.2153C>T (p.Ala718Val)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002645639;	-1	2	206988940	206988940	NC_000002.11:g.206988940G>A	-	N	Feb 18, 2022	criteria provided, single submitter	1
251. Pubmed: Pubtator:	1289376	NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:C3661900	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV001728127\|RCV002538694;	771012852	2	206988953	206988953	206988953	-	N	Aug 19, 2022	criteria provided, multiple submitters, no conflicts	2
252. Pubmed: 25741868, 25326635 Pubtator: 25741868 25326635	552061	NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)	4719	NDUFS1	Uncertain significance	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MedGen:CN517202	Mitochondrial complex I deficiency\|not provided	RCV000680046\|RCV003153798;	765677840	2	206988964	206988964	2:g.206988964C>T	-	N	Sep 15, 2022	criteria provided, multiple submitters, no conflicts	2
253. Pubmed: Pubtator:	1351827	NM_005006.7(NDUFS1):c.2098A>G (p.Ile700Val)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001998583;	755681983	2	206988995	206988995	206988995	-	N	Jun 17, 2022	criteria provided, single submitter	1
254. Pubmed: Pubtator:	1015960	NM_005006.7(NDUFS1):c.2092+9T>C	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	RCV001332552;	1173129542	2	206991254	206991254	206991254	-	N	Jan 16, 2019	criteria provided, single submitter	1
255. Pubmed: Pubtator:	2173280	NM_005006.7(NDUFS1):c.2092+7A>C	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV003025212;	-1	2	206991256	206991256	NC_000002.11:g.206991256T>G	-	N	Apr 07, 2022	criteria provided, single submitter	1
256. Pubmed: Pubtator:	1293292	NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001756512;	773465401	2	206991271	206991271	206991271	-	N	Mar 03, 2020	criteria provided, single submitter	1
257. Pubmed: Pubtator:	2436398	NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003190054;	-1	2	206991284	206991284		-	N	Feb 08, 2023	criteria provided, single submitter	1
258. Pubmed: Pubtator:	2074377	NM_005006.7(NDUFS1):c.1995C>A (p.Phe665Leu)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002829399;	-1	2	206991458	206991458	NC_000002.11:g.206991458G>T	-	N	Nov 28, 2021	criteria provided, single submitter	1
259. Pubmed: Pubtator:	2839234	NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003448793;	-1	2	206991463	206991463		-	N	Feb 14, 2023	criteria provided, single submitter	1
260. Pubmed: Pubtator:	1374869	NM_005006.7(NDUFS1):c.1960G>C (p.Val654Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001947643;	1456097616	2	206991493	206991493	206991493	-	N	Aug 31, 2022	criteria provided, single submitter	1
261. Pubmed: Pubtator:	1507249	NM_005006.7(NDUFS1):c.1907A>G (p.Tyr636Cys)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001962607;	779514372	2	206991546	206991546	206991546	-	N	Sep 07, 2022	criteria provided, single submitter	1
262. Pubmed: Pubtator:	1378612	NM_005006.7(NDUFS1):c.1898C>T (p.Thr633Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002029953;	2105943960	2	206991555	206991555	206991555	-	N	Jul 12, 2022	criteria provided, single submitter	1
263. Pubmed: Pubtator:	1416877	NM_005006.7(NDUFS1):c.1853A>G (p.Glu618Gly)	4719	NDUFS1	Uncertain significance		MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV001998217\|RCV003264361;	753977755	2	206992552	206992552	206992552	-	N	May 28, 2023	criteria provided, multiple submitters, no conflicts	2
264. Pubmed: Pubtator:	1977886	NM_005006.7(NDUFS1):c.1814A>T (p.Gln605Leu)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002590373;	-1	2	206992591	206992591	NC_000002.11:g.206992591T>A	-	N	Aug 04, 2022	criteria provided, single submitter	1
265. Pubmed: Pubtator:	2019700	NM_005006.7(NDUFS1):c.1787A>G (p.Tyr596Cys)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Inborn genetic diseases\|not provided	RCV002701340\|RCV002701339;	-1	2	206992618	206992618	NC_000002.11:g.206992618T>C	-	N	Dec 28, 2022	criteria provided, multiple submitters, no conflicts	2
266. Pubmed: Pubtator:	1914536	NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Inborn genetic diseases\|not provided	RCV002611362\|RCV002611363;	-1	2	206992625	206992625	NC_000002.11:g.206992625C>T	-	N	Aug 20, 2022	criteria provided, multiple submitters, no conflicts	2
267. Pubmed: Pubtator:	1701624	NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV002283853;	-1	2	206992629	206992629	206992629	-	N	Sep 01, 2022	criteria provided, single submitter	1
268. Pubmed: Pubtator:	1384591	NM_005006.7(NDUFS1):c.1772A>G (p.Glu591Gly)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001981304;	954779442	2	206992633	206992633	206992633	-	N	Jun 13, 2022	criteria provided, single submitter	1
269. Pubmed: Pubtator:	2368952	NM_005006.7(NDUFS1):c.1759G>C (p.Ala587Pro)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003001393;	-1	2	206992646	206992646	NC_000002.11:g.206992646C>G	-	N	Jan 31, 2022	criteria provided, single submitter	1
270. Pubmed: Pubtator:	883457	NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided\|Inborn genetic diseases	RCV001136553\|RCV001136554\|RCV002556899\|RCV002556898;	773111037	2	206992657	206992657	2:g.206992657A>G	-	N	Aug 16, 2022	criteria provided, multiple submitters, no conflicts	3
271. Pubmed: Pubtator:	1397667	NM_005006.7(NDUFS1):c.1730C>A (p.Ala577Asp)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001992575;	1691357817	2	206992675	206992675	206992675	-	N	Aug 24, 2021	criteria provided, single submitter	1
272. Pubmed: Pubtator:	210740	NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	Inborn genetic diseases\|not provided	RCV003270359\|RCV003436006;	863224102	2	206994850	206994850		-	N	Aug 01, 2023	criteria provided, multiple submitters, no conflicts	2
273. Pubmed: Pubtator:	1966488	NM_005006.7(NDUFS1):c.1666A>C (p.Thr556Pro)	4719	NDUFS1	Uncertain significance		MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV002589547\|RCV003167452;	-1	2	206994854	206994854	NC_000002.11:g.206994854T>G	-	N	Feb 13, 2023	criteria provided, multiple submitters, no conflicts	2
274. Pubmed: Pubtator:	2839191	NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003448749;	-1	2	206994869	206994869		-	N	Mar 01, 2023	criteria provided, single submitter	1
275. Pubmed: Pubtator:	2270140	NM_005006.7(NDUFS1):c.1646G>A (p.Gly549Glu)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002818144;	-1	2	206994874	206994874	NC_000002.11:g.206994874C>T	-	N	Feb 17, 2022	criteria provided, single submitter	1
276. Pubmed: Pubtator:	2782728	NM_005006.7(NDUFS1):c.1630G>T (p.Val544Leu)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003376980;	-1	2	206994890	206994890		-	N	Aug 15, 2023	criteria provided, single submitter	1
277. Pubmed: Pubtator:	1015961	NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001332551\|RCV003225178;	762228459	2	206994896	206994896	206994896	-	N	Oct 26, 2022	criteria provided, multiple submitters, no conflicts	2
278. Pubmed: Pubtator:	1344903	NM_005006.7(NDUFS1):c.1613G>A (p.Arg538Gln)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001989581;	768062085	2	206994907	206994907	206994907	-	N	Jul 19, 2022	criteria provided, single submitter	1
279. Pubmed: Pubtator:	883458	NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome\|not provided	RCV001138790\|RCV001138791\|RCV001799736;	138887128	2	206994908	206994908	2:g.206994908G>A	-	N	Oct 20, 2023	criteria provided, multiple submitters, no conflicts	3
280. Pubmed: Pubtator:	2439328	NM_005006.7(NDUFS1):c.1610T>C (p.Ile537Thr)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003196445;	-1	2	206994910	206994910		-	N	Mar 02, 2023	criteria provided, single submitter	1
281. Pubmed: Pubtator:	2032857	NM_005006.7(NDUFS1):c.1589A>G (p.Tyr530Cys)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002740842;	-1	2	206994931	206994931	NC_000002.11:g.206994931T>C	-	N	Jun 07, 2022	criteria provided, single submitter	1
282. Pubmed: Pubtator:	619933	NM_005006.7(NDUFS1):c.1554-1G>A	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000778153;	1056433452	2	206994967	206994967	NC_000002.11:g.206994967C>T	-	N	Apr 05, 2019	criteria provided, single submitter	1
283. Pubmed: Pubtator:	1935379	NM_005006.7(NDUFS1):c.1546C>T (p.Leu516Phe)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV002510712;	-1	2	206997676	206997676	NC_000002.11:g.206997676G>A	-	N	-	criteria provided, single submitter	1
284. Pubmed: Pubtator:	883459	NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001138794\|RCV001138795;	1434275816	2	206997697	206997697	2:g.206997697C>A	-	N	Jan 13, 2018	criteria provided, single submitter	1
285. Pubmed: Pubtator:	2103519	NM_005006.7(NDUFS1):c.1522G>A (p.Gly508Ser)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002908776;	-1	2	206997700	206997700	NC_000002.11:g.206997700C>T	-	N	Apr 21, 2022	criteria provided, single submitter	1
286. Pubmed: Pubtator:	1881201	NM_005006.7(NDUFS1):c.1505T>G (p.Met502Arg)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Inborn genetic diseases\|not provided	RCV003063617\|RCV003081261;	-1	2	206997717	206997717	NC_000002.11:g.206997717A>C	-	N	Jul 19, 2022	criteria provided, multiple submitters, no conflicts	2
287. Pubmed: Pubtator:	2386899	NM_005006.7(NDUFS1):c.1502G>A (p.Arg501Gln)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002739245;	-1	2	206997720	206997720	NC_000002.11:g.206997720C>T	-	N	Sep 17, 2021	criteria provided, single submitter	1
288. Pubmed: Pubtator:	1917204	NM_005006.7(NDUFS1):c.1483A>G (p.Ser495Gly)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002615428;	-1	2	206997739	206997739	NC_000002.11:g.206997739T>C	-	N	Apr 30, 2022	criteria provided, single submitter	1
289. Pubmed: Pubtator:	210742	NM_005006.7(NDUFS1):c.1423G>T (p.Val475Phe)	4719	NDUFS1	Uncertain significance	CN169374 not specified;	MedGen:CN517202	not provided	RCV000199002;	139120428	2	206997799	206997799	2:g.206997799C>A	ClinGen:CA323546	N	Apr 05, 2013	criteria provided, single submitter	1
290. Pubmed: Pubtator:	2400785	NM_005006.7(NDUFS1):c.1417A>G (p.Met473Val)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002789573;	-1	2	206997805	206997805	NC_000002.11:g.206997805T>C	-	N	Oct 12, 2022	criteria provided, single submitter	1
291. Pubmed: Pubtator:	1477525	NM_005006.7(NDUFS1):c.1415C>T (p.Pro472Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001939111;	1448338752	2	206997807	206997807	206997807	-	N	Sep 24, 2021	criteria provided, single submitter	1
292. Pubmed: Pubtator:	1445792	NM_005006.7(NDUFS1):c.1412A>G (p.Lys471Arg)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002011355;	772128142	2	206997810	206997810	206997810	-	N	Oct 31, 2022	criteria provided, single submitter	1
293. Pubmed: Pubtator:	1858394	NM_005006.7(NDUFS1):c.1405G>A (p.Ala469Thr)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002462704;	-1	2	206997817	206997817	NC_000002.11:g.206997817C>T	-	N	May 26, 2022	criteria provided, single submitter	1
294. Pubmed: Pubtator:	679334	NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000852380;	777102927	2	206997829	206997829	2:g.206997829C>T	-	N	Aug 30, 2019	no assertion criteria provided	1
295. Pubmed: Pubtator:	1967136	NM_005006.7(NDUFS1):c.1380T>G (p.His460Gln)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002590329;	-1	2	207003221	207003221	NC_000002.11:g.207003221A>C	-	N	Jul 17, 2022	criteria provided, single submitter	1
296. Pubmed: Pubtator:	2117255	NM_005006.7(NDUFS1):c.1370C>T (p.Ser457Leu)	4719	NDUFS1	Uncertain significance		MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV002933708\|RCV003340566;	-1	2	207003231	207003231	NC_000002.11:g.207003231G>A	-	N	Aug 19, 2023	criteria provided, multiple submitters, no conflicts	2
297. Pubmed: Pubtator:	1326410	NM_005006.7(NDUFS1):c.1354C>A (p.Leu452Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001816287;	140530293	2	207003247	207003247	207003247	-	N	Oct 01, 2021	criteria provided, single submitter	1
298. Pubmed: Pubtator:	1419340	NM_005006.7(NDUFS1):c.1349A>G (p.Lys450Arg)	4719	NDUFS1	Uncertain significance		MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV001946137\|RCV002561459;	757426469	2	207003252	207003252	207003252	-	N	May 03, 2022	criteria provided, multiple submitters, no conflicts	2
299. Pubmed: Pubtator:	1445307	NM_005006.7(NDUFS1):c.1346C>T (p.Pro449Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002025083;	781249832	2	207003255	207003255	207003255	-	N	Sep 01, 2022	criteria provided, single submitter	1
300. Pubmed: Pubtator:	2316387	NM_005006.7(NDUFS1):c.1336G>A (p.Gly446Arg)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002934553;	-1	2	207003265	207003265	NC_000002.11:g.207003265C>T	-	N	Nov 18, 2022	criteria provided, single submitter	1
301. Pubmed: Pubtator:	1884387	NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Inborn genetic diseases\|not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV003078856\|RCV003089786\|RCV003134642;	-1	2	207003271	207003271	NC_000002.11:g.207003271G>A	-	N	Feb 11, 2022	criteria provided, multiple submitters, no conflicts	3
302. Pubmed: Pubtator:	1015962	NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV001332550\|RCV002546578;	769167029	2	207003280	207003280	207003280	-	N	Jun 12, 2022	criteria provided, multiple submitters, no conflicts	2
303. Pubmed: Pubtator:	1424300	NM_005006.7(NDUFS1):c.1299C>T (p.Gly433=)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002047656;	2105961351	2	207003302	207003302	207003302	-	N	Aug 28, 2021	criteria provided, single submitter	1
304. Pubmed: Pubtator:	883460	NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV001141372\|RCV001141373;	78042826	2	207003310	207003310	2:g.207003310G>A	-	N	Jan 13, 2018	criteria provided, single submitter	1
305. Pubmed: Pubtator:	2459659	NM_005006.7(NDUFS1):c.1275T>A (p.Asn425Lys)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003219582;	-1	2	207003326	207003326		-	N	Feb 16, 2023	criteria provided, single submitter	1
306. Pubmed: Pubtator:	2009504	NM_005006.7(NDUFS1):c.1250_1251delinsAG (p.Arg417Lys)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002701199;	-1	2	207006676	207006677	NC_000002.11:g.207006676_207006677delinsCT	-	N	Jan 11, 2022	criteria provided, single submitter	1
307. Pubmed: 25741868, 25326635 Pubtator: 25741868 25326635	552062	NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)	4719	NDUFS1	Uncertain significance	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	Mitochondrial complex I deficiency	RCV000680045;	1127567	2	207006678	207006678	2:g.207006678T>C	-	N	Sep 01, 2017	criteria provided, single submitter	1
308. Pubmed: Pubtator:	790156	NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Leigh syndrome	RCV000986983;	751150787	2	207006692	207006692	2:g.207006692G>A	-	N	May 28, 2019	criteria provided, single submitter	1
309. Pubmed: Pubtator:	1019537	NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	RCV001335222;	1559055100	2	207006727	207006729	207006726	-	N	Mar 20, 2018	criteria provided, single submitter	1
310. Pubmed: Pubtator:	2775315	NM_005006.7(NDUFS1):c.1194T>G (p.Asp398Glu)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003343237;	-1	2	207006733	207006733		-	N	Jun 16, 2023	criteria provided, single submitter	1
311. Pubmed: Pubtator:	1479729	NM_005006.7(NDUFS1):c.1186G>A (p.Glu396Lys)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001888211;	141724890	2	207006741	207006741	207006741	-	N	Jun 28, 2022	criteria provided, single submitter	1
312. Pubmed: Pubtator:	1471064	NM_005006.7(NDUFS1):c.1171A>G (p.Ile391Val)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001931521;	779439150	2	207006756	207006756	207006756	-	N	Sep 15, 2022	criteria provided, multiple submitters, no conflicts	2
313. Pubmed: Pubtator:	1352627	NM_005006.7(NDUFS1):c.1164TAC[1] (p.Thr390del)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001870966;	2105967024	2	207006758	207006760	207006757	-	N	Dec 07, 2021	criteria provided, single submitter	1
314. Pubmed: Pubtator:	2304789	NM_005006.7(NDUFS1):c.1154A>G (p.Tyr385Cys)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002906550;	-1	2	207006773	207006773	NC_000002.11:g.207006773T>C	-	N	Nov 07, 2022	criteria provided, single submitter	1
315. Pubmed: Pubtator:	1429811	NM_005006.7(NDUFS1):c.1151A>G (p.Asn384Ser)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001998651;	147185691	2	207006776	207006776	207006776	-	N	Aug 20, 2022	criteria provided, single submitter	1
316. Pubmed: Pubtator:	1452434	NM_005006.7(NDUFS1):c.1151A>T (p.Asn384Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002037388;	147185691	2	207006776	207006776	207006776	-	N	Aug 31, 2022	criteria provided, single submitter	1
317. Pubmed: Pubtator:	2128584	NM_005006.7(NDUFS1):c.1145G>A (p.Arg382His)	4719	NDUFS1	Uncertain significance		MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV002953543\|RCV002953542;	-1	2	207006782	207006782	NC_000002.11:g.207006782C>T	-	N	Jul 12, 2022	criteria provided, multiple submitters, no conflicts	2
318. Pubmed: Pubtator:	2011216	NM_005006.7(NDUFS1):c.1143G>T (p.Leu381Phe)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002681867;	-1	2	207006784	207006784	NC_000002.11:g.207006784C>A	-	N	Dec 27, 2021	criteria provided, single submitter	1
319. Pubmed: Pubtator:	1975577	NM_005006.7(NDUFS1):c.1098A>C (p.Leu366Phe)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002621459;	-1	2	207007445	207007445	NC_000002.11:g.207007445T>G	-	N	Aug 13, 2022	criteria provided, single submitter	1
320. Pubmed: Pubtator:	1433850	NM_005006.7(NDUFS1):c.1076A>G (p.Asn359Ser)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002024550;	1254059933	2	207007467	207007467	207007467	-	N	Dec 03, 2021	criteria provided, single submitter	1
321. Pubmed: Pubtator:	1337571	NM_005006.7(NDUFS1):c.1071G>C (p.Leu357Phe)	4719	NDUFS1	Uncertain significance		MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV001923895\|RCV002558435;	199799342	2	207007472	207007472	207007472	-	N	Oct 13, 2022	criteria provided, multiple submitters, no conflicts	2
322. Pubmed: Pubtator:	273417	NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His)	4719	NDUFS1	Uncertain significance	CN169374 not specified;	MedGen:C3661900	not provided	RCV000396917;	139690694	2	207007482	207007482	2:g.207007482A>T	ClinGen:CA2070576	N	Aug 17, 2022	criteria provided, multiple submitters, no conflicts	2
323. Pubmed: Pubtator:	1908780	NM_005006.7(NDUFS1):c.1021A>G (p.Ile341Val)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002614921;	-1	2	207007522	207007522	NC_000002.11:g.207007522T>C	-	N	Aug 15, 2022	criteria provided, single submitter	1
324. Pubmed: Pubtator:	2133302	NM_005006.7(NDUFS1):c.1012G>A (p.Val338Met)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV003011124;	-1	2	207007531	207007531	NC_000002.11:g.207007531C>T	-	N	Mar 22, 2022	criteria provided, single submitter	1
325. Pubmed: Pubtator:	2410654	NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003131705;	-1	2	207007550	207007550	NC_000002.11:g.207007550C>A	-	N	Aug 03, 2021	criteria provided, single submitter	1
326. Pubmed: Pubtator:	883461	NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001136653\|RCV001136654;	774232299	2	207008743	207008743	2:g.207008743A>G	-	N	Jan 13, 2018	criteria provided, single submitter	1
327. Pubmed: Pubtator:	2004344	NM_005006.7(NDUFS1):c.983G>A (p.Gly328Glu)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002646632;	-1	2	207008746	207008746	NC_000002.11:g.207008746C>T	-	N	May 05, 2022	criteria provided, single submitter	1
328. Pubmed: Pubtator:	1950967	NM_005006.7(NDUFS1):c.976G>A (p.Val326Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV003116906;	-1	2	207008753	207008753	NC_000002.11:g.207008753C>T	-	N	Jul 30, 2022	criteria provided, single submitter	1
329. Pubmed: Pubtator:	1297630	NM_005006.7(NDUFS1):c.974G>A (p.Arg325His)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001763218;	773632832	2	207008755	207008755	207008755	-	N	Oct 13, 2022	criteria provided, multiple submitters, no conflicts	2
330. Pubmed: Pubtator:	1296080	NM_005006.7(NDUFS1):c.944C>T (p.Thr315Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001760549;	749532780	2	207008785	207008785	207008785	-	N	Jul 17, 2019	criteria provided, single submitter	1
331. Pubmed: Pubtator:	210744	NM_005006.7(NDUFS1):c.926A>G (p.Asn309Ser)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002961488;	774168387	2	207008803	207008803	NC_000002.11:g.207008803T>C	-	N	Oct 26, 2022	criteria provided, single submitter	1
332. Pubmed: Pubtator:	404755	NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)	4719	NDUFS1	Uncertain significance	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:C3661900	Mitochondrial complex I deficiency\|Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000477869\|RCV002489139\|RCV003105917;	75666426	2	207008821	207008821	2:g.207008821G>C	ClinGen:CA2070622	N	Jan 30, 2023	criteria provided, multiple submitters, no conflicts	3
333. Pubmed: Pubtator:	2038303	NM_005006.7(NDUFS1):c.876T>G (p.Phe292Leu)	4719	NDUFS1	Uncertain significance		MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV002766095\|RCV002775230;	-1	2	207008853	207008853	NC_000002.11:g.207008853A>C	-	N	Sep 07, 2022	criteria provided, multiple submitters, no conflicts	2
334. Pubmed: Pubtator:	2097540	NM_005006.7(NDUFS1):c.872+6T>C	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002899601;	-1	2	207009610	207009610	NC_000002.11:g.207009610A>G	-	N	Jun 17, 2022	criteria provided, single submitter	1
335. Pubmed: Pubtator:	1709111	NM_005006.7(NDUFS1):c.841A>G (p.Ile281Val)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002291987;	-1	2	207009647	207009647	207009647	-	N	Oct 14, 2022	criteria provided, single submitter	1
336. Pubmed: Pubtator:	1985686	NM_005006.7(NDUFS1):c.831G>A (p.Met277Ile)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002632037;	-1	2	207009657	207009657	NC_000002.11:g.207009657C>T	-	N	May 21, 2022	criteria provided, single submitter	1
337. Pubmed: Pubtator:	2005493	NM_005006.7(NDUFS1):c.827G>A (p.Arg276His)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Inborn genetic diseases\|not provided	RCV002663089\|RCV002671012;	-1	2	207009661	207009661	NC_000002.11:g.207009661C>T	-	N	May 04, 2022	criteria provided, multiple submitters, no conflicts	2
338. Pubmed: Pubtator:	1019538	NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Mitochondrial complex I deficiency, nuclear type 1\|Inborn genetic diseases\|not provided	RCV001335223\|RCV002546721\|RCV003325564;	142941808	2	207009662	207009662	207009662	-	N	Aug 31, 2023	criteria provided, multiple submitters, no conflicts	3
339. Pubmed: Pubtator:	1979464	NM_005006.7(NDUFS1):c.738-16C>T	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002634426;	-1	2	207009766	207009766	NC_000002.11:g.207009766G>A	-	N	Nov 01, 2022	criteria provided, single submitter	1
340. Pubmed: Pubtator:	620738	NM_005006.7(NDUFS1):c.737+1G>A	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV000779295;	935776676	2	207011626	207011626	NC_000002.11:g.207011626C>T	-	N	Apr 28, 2017	criteria provided, single submitter	1
341. Pubmed: Pubtator:	1897038	NM_005006.7(NDUFS1):c.722G>A (p.Arg241Gln)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV003097512;	-1	2	207011642	207011642	NC_000002.11:g.207011642C>T	-	N	Jul 21, 2022	criteria provided, single submitter	1
342. Pubmed: 11349233 Pubtator: 11349233	29271	NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	4719	NDUFS1	Uncertain significance	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000015300\|RCV002513059;	199422225	2	207011643	207011643	2:g.207011643G>A	ClinGen:CA123815,UniProtKB:P28331#VAR_019532,OMIM:157655.0003	N	Mar 09, 2022	criteria provided, multiple submitters, no conflicts	3
343. Pubmed: 15824269 Pubtator: 15824269	29272	NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)	4719	NDUFS1	Uncertain significance	C1838979 252010 Mitochondrial complex I deficiency;	MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|	Mitochondrial complex 1 deficiency, nuclear type 5\|See cases	RCV000015301\|RCV002251906;	199422226	2	207011673	207011673	2:g.207011673G>C	ClinGen:CA123816,OMIM:157655.0004	N	Oct 31, 2019	criteria provided, single submitter	2
344. Pubmed: Pubtator:	1408861	NM_005006.7(NDUFS1):c.689C>T (p.Ala230Val)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002015697;	1575984450	2	207011675	207011675	207011675	-	N	Aug 09, 2022	criteria provided, single submitter	1
345. Pubmed: Pubtator:	790157	NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Leigh syndrome	RCV000986984;	1575984450	2	207011675	207011675	2:g.207011675G>T	-	N	May 28, 2019	criteria provided, single submitter	1
346. Pubmed: Pubtator:	1345626	NM_005006.7(NDUFS1):c.675C>G (p.Ile225Met)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001924919;	779381916	2	207011689	207011689	207011689	-	N	Dec 02, 2021	criteria provided, single submitter	1
347. Pubmed: Pubtator:	1909644	NM_005006.7(NDUFS1):c.632A>G (p.Glu211Gly)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002610686;	-1	2	207011732	207011732	NC_000002.11:g.207011732T>C	-	N	Aug 31, 2022	criteria provided, single submitter	1
348. Pubmed: Pubtator:	1399183	NM_005006.7(NDUFS1):c.592A>C (p.Thr198Pro)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001898257;	1309978370	2	207011772	207011772	207011772	-	N	Dec 02, 2021	criteria provided, single submitter	1
349. Pubmed: Pubtator:	1330073	NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV001823484;	2105974048	2	207011778	207011778	207011778	-	N	-	criteria provided, single submitter	1
350. Pubmed: Pubtator:	2410653	NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003132863;	-1	2	207011786	207011786	NC_000002.11:g.207011786T>C	-	N	May 12, 2021	criteria provided, single submitter	1
351. Pubmed: Pubtator:	584518	NM_005006.7(NDUFS1):c.560G>C (p.Ser187Thr)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV000728489;	755478033	2	207011804	207011804	NC_000002.11:g.207011804C>G	-	N	Jul 28, 2017	criteria provided, single submitter	1
352. Pubmed: Pubtator:	905017	NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV001172487;	1458382625	2	207012255	207012255	2:g.207012255C>G	-	N	-	no assertion criteria provided	1
353. Pubmed: Pubtator:	1709159	NM_005006.7(NDUFS1):c.533A>G (p.Gln178Arg)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002292035;	-1	2	207012273	207012273	207012273	-	N	Apr 12, 2022	criteria provided, single submitter	1
354. Pubmed: Pubtator:	210748	NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)	4719	NDUFS1	Uncertain significance	CN169374 not specified;	MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5	RCV000593838\|RCV001249403;	140126185	2	207012277	207012277	2:g.207012277T>C	ClinGen:CA321662	N	May 30, 2023	criteria provided, multiple submitters, no conflicts	4
355. Pubmed: Pubtator:	1710559	NM_005006.7(NDUFS1):c.493A>G (p.Ile165Val)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002293855;	-1	2	207012313	207012313	207012313	-	N	Apr 15, 2022	criteria provided, single submitter	1
356. Pubmed: Pubtator:	1015963	NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001332554\|RCV001365457;	764520533	2	207012330	207012330	207012330	-	N	Dec 02, 2021	criteria provided, multiple submitters, no conflicts	2
357. Pubmed: Pubtator:	2523473	NM_005006.7(NDUFS1):c.473G>A (p.Arg158His)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV003225487;	-1	2	207012333	207012333		-	N	Nov 01, 2022	criteria provided, single submitter	1
358. Pubmed: Pubtator:	1399197	NM_005006.7(NDUFS1):c.457T>C (p.Phe153Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001884500;	778246658	2	207012349	207012349	207012349	-	N	Sep 13, 2022	criteria provided, single submitter	1
359. Pubmed: Pubtator:	210749	NM_005006.7(NDUFS1):c.421-6C>G	4719	NDUFS1	Uncertain significance	CN169374 not specified;	MedGen:CN517202	not provided	RCV000200797;	863224095	2	207012391	207012391	2:g.207012391G>C	ClinGen:CA325380	N	Aug 20, 2013	criteria provided, single submitter	1
360. Pubmed: Pubtator:	2181833	NM_005006.7(NDUFS1):c.408A>G (p.Glu136=)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV003047336;	-1	2	207012489	207012489		-	N	Apr 15, 2022	criteria provided, single submitter	1
361. Pubmed: Pubtator:	2795486	NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV003389387;	-1	2	207012508	207012508		-	N	-	criteria provided, single submitter	1
362. Pubmed: Pubtator:	883463	NM_005006.7(NDUFS1):c.361T>C (p.Leu121=)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001141490\|RCV001141489;	780235386	2	207012536	207012536	2:g.207012536A>G	-	N	Jan 12, 2018	criteria provided, single submitter	1
363. Pubmed: Pubtator:	2233326	NM_005006.7(NDUFS1):c.350T>G (p.Met117Arg)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002737408;	-1	2	207012547	207012547	NC_000002.11:g.207012547A>C	-	N	Aug 12, 2021	criteria provided, single submitter	1
364. Pubmed: Pubtator:	883464	NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001141491\|RCV001141492;	1692265722	2	207013745	207013745	2:g.207013745T>C	-	N	Jan 12, 2018	criteria provided, single submitter	1
365. Pubmed: Pubtator:	1383040	NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr)	4719	NDUFS1	Uncertain significance		MedGen:C3661900\|MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MeSH:D030342,MedGen:C0950123	not provided\|Mitochondrial complex 1 deficiency, nuclear type 5\|Inborn genetic diseases	RCV001921188\|RCV002484506\|RCV002557722;	769616417	2	207013757	207013757	207013757	-	N	Apr 29, 2022	criteria provided, multiple submitters, no conflicts	3
366. Pubmed: Pubtator:	2074458	NM_005006.7(NDUFS1):c.304A>G (p.Ile102Val)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002856292;	-1	2	207013778	207013778	NC_000002.11:g.207013778T>C	-	N	Jul 14, 2022	criteria provided, single submitter	1
367. Pubmed: Pubtator:	1322355	NM_005006.7(NDUFS1):c.289A>T (p.Met97Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001806979;	2105977000	2	207013793	207013793	207013793	-	N	Jan 08, 2021	criteria provided, single submitter	1
368. Pubmed: Pubtator:	1015964	NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001332553\|RCV001859297;	763697779	2	207013802	207013802	207013802	-	N	Aug 09, 2022	criteria provided, multiple submitters, no conflicts	2
369. Pubmed: Pubtator:	887244	NM_005006.7(NDUFS1):c.261+6T>C	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV001143328\|RCV001143327;	748906579	2	207014536	207014536	2:g.207014536A>G	-	N	Jan 12, 2018	criteria provided, single submitter	1
370. Pubmed: Pubtator:	2008848	NM_005006.7(NDUFS1):c.233G>A (p.Cys78Tyr)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002706211;	-1	2	207014570	207014570	NC_000002.11:g.207014570C>T	-	N	Apr 29, 2022	criteria provided, single submitter	1
371. Pubmed: Pubtator:	2288651	NM_005006.7(NDUFS1):c.209C>T (p.Ser70Phe)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002882991;	-1	2	207014594	207014594	NC_000002.11:g.207014594G>A	-	N	Jul 12, 2022	criteria provided, single submitter	1
372. Pubmed: Pubtator:	210751	NM_005006.7(NDUFS1):c.185G>A (p.Arg62Gln)	4719	NDUFS1	Uncertain significance	CN517202 not provided;	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV000197730\|RCV002515414;	201034481	2	207014618	207014618	2:g.207014618C>T	ClinGen:CA322194	N	Aug 31, 2022	criteria provided, multiple submitters, no conflicts	3
373. Pubmed: Pubtator:	1289372	NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV001728123;	2105978220	2	207014619	207014619	207014619	-	N	May 24, 2021	criteria provided, single submitter	1
374. Pubmed: Pubtator:	1293188	NM_005006.7(NDUFS1):c.177G>C (p.Gln59His)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001756407;	1692301816	2	207014626	207014626	207014626	-	N	Jun 30, 2020	criteria provided, single submitter	1
375. Pubmed: Pubtator:	2223844	NM_005006.7(NDUFS1):c.169G>A (p.Gly57Ser)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002722950;	-1	2	207014634	207014634	NC_000002.11:g.207014634C>T	-	N	Jul 01, 2021	criteria provided, single submitter	1
376. Pubmed: Pubtator:	1370321	NM_005006.7(NDUFS1):c.154G>A (p.Ala52Thr)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001972965;	759823916	2	207014649	207014649	207014649	-	N	Jun 20, 2022	criteria provided, single submitter	1
377. Pubmed: Pubtator:	1351419	NM_005006.7(NDUFS1):c.153+6C>G	4719	NDUFS1	Uncertain significance		MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV002021864\|RCV002563604;	1051428500	2	207017137	207017137	207017137	-	N	Jul 04, 2022	criteria provided, multiple submitters, no conflicts	2
378. Pubmed: Pubtator:	2680231	NM_005006.7(NDUFS1):c.145G>A (p.Val49Ile)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003259692;	-1	2	207017151	207017151		-	N	Jun 05, 2023	criteria provided, single submitter	1
379. Pubmed: Pubtator:	2021320	NM_005006.7(NDUFS1):c.139A>G (p.Thr47Ala)	4719	NDUFS1	Uncertain significance		MedGen:CN517202	not provided	RCV002745390;	-1	2	207017157	207017157	NC_000002.11:g.207017157T>C	-	N	May 27, 2022	criteria provided, single submitter	1
380. Pubmed: Pubtator:	2379027	NM_005006.7(NDUFS1):c.134C>T (p.Pro45Leu)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002749523;	-1	2	207017162	207017162	NC_000002.11:g.207017162G>A	-	N	Sep 14, 2021	criteria provided, single submitter	1
381. Pubmed: Pubtator:	1863250	NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226	Mitochondrial complex 1 deficiency, nuclear type 5	RCV002470524;	-1	2	207017162	207017162	NC_000002.11:g.207017162G>T	-	N	Aug 28, 2019	criteria provided, single submitter	1
382. Pubmed: Pubtator:	2213699	NM_005006.7(NDUFS1):c.127G>A (p.Val43Met)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002656764;	-1	2	207017169	207017169	NC_000002.11:g.207017169C>T	-	N	Sep 16, 2021	criteria provided, single submitter	1
383. Pubmed: Pubtator:	2696938	NM_005006.7(NDUFS1):c.109G>C (p.Asp37His)	4719	NDUFS1	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV003241523;	-1	2	207017187	207017187		-	N	Jun 01, 2023	criteria provided, single submitter	1
384. Pubmed: Pubtator:	1512942	NM_005006.7(NDUFS1):c.100G>C (p.Val34Leu)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001866855;	1559065188	2	207017196	207017196	207017196	-	N	Mar 22, 2022	criteria provided, single submitter	1
385. Pubmed: Pubtator:	2796332	NM_005006.7(NDUFS1):c.86G>A (p.Ser29Asn)	4719	NDUFS1	Uncertain significance		-	NDUFS1-related condition	RCV003402417;	-1	2	207017210	207017210		-	N	Jan 27, 2023	criteria provided, single submitter	1
386. Pubmed: Pubtator:	1448336	NM_005006.7(NDUFS1):c.71C>T (p.Thr24Ile)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV001949024;	764371466	2	207017225	207017225	207017225	-	N	Aug 09, 2022	criteria provided, single submitter	1
387. Pubmed: Pubtator:	883465	NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MedGen:CN517202	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1\|not provided	RCV001143330\|RCV001143329\|RCV002557052;	774332882	2	207017226	207017226	2:g.207017226T>C	-	N	Jul 12, 2022	criteria provided, multiple submitters, no conflicts	2
388. Pubmed: Pubtator:	918730	NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:CN517202	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV001197062\|RCV002559254;	767457281	2	207017231	207017231	2:g.207017231C>T	-	N	Aug 09, 2022	criteria provided, multiple submitters, no conflicts	2
389. Pubmed: Pubtator:	883467	NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu)	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001136756\|RCV001136757;	1367512688	2	207018371	207018371	2:g.207018371A>T	-	N	Apr 27, 2017	criteria provided, single submitter	1
390. Pubmed: Pubtator:	1364704	NM_005006.7(NDUFS1):c.1A>G (p.Met1Val)	4719	NDUFS1	Uncertain significance		MedGen:C3661900	not provided	RCV002021960;	1359444986	2	207018402	207018402	207018402	-	N	Dec 02, 2021	criteria provided, single submitter	1
391. Pubmed: Pubtator:	788746	NM_005006.7(NDUFS1):c.-5+236T>C	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0032610,MedGen:C4748754,OMIM:618226\|MedGen:C3661900	Mitochondrial complex 1 deficiency, nuclear type 5\|not provided	RCV000985220\|RCV001356090;	184505364	2	207023829	207023829	2:g.207023829A>G	-	N	Mar 03, 2022	criteria provided, single submitter	3
392. Pubmed: Pubtator:	883468	NM_005006.7(NDUFS1):c.-31A>G	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001136759\|RCV001136758;	1687818178	2	207024091	207024091	2:g.207024091T>C	-	N	Apr 27, 2017	criteria provided, single submitter	1
393. Pubmed: Pubtator:	883469	NM_005006.7(NDUFS1):c.-38T>G	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001136761\|RCV001136760;	1559071008	2	207024098	207024098	2:g.207024098A>C	-	N	Jan 13, 2018	criteria provided, single submitter	1
394. Pubmed: Pubtator:	883470	NM_005006.7(NDUFS1):c.-61G>C	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001138989\|RCV001138990;	367762150	2	207024121	207024121	2:g.207024121C>G	-	N	Jan 13, 2018	criteria provided, single submitter	1
395. Pubmed: Pubtator:	883472	NM_005006.7(NDUFS1):c.-73C>A	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV001138993\|RCV001138994;	367649369	2	207024133	207024133	2:g.207024133G>T	-	N	Jan 12, 2018	criteria provided, single submitter	1
396. Pubmed: Pubtator:	883475	NM_005006.7(NDUFS1):c.-101G>A	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	Mitochondrial complex I deficiency, nuclear type 1\|Leigh syndrome	RCV001141609\|RCV001141608;	983757976	2	207024161	207024161	2:g.207024161C>T	-	N	Jan 13, 2018	criteria provided, single submitter	1
397. Pubmed: Pubtator:	883476	NM_005006.6(NDUFS1):c.-149T>G	4719	NDUFS1	Uncertain significance		MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	Leigh syndrome\|Mitochondrial complex I deficiency, nuclear type 1	RCV001141610\|RCV001141611;	572965960	2	207024209	207024209	2:g.207024209A>C	-	N	Jan 12, 2018	criteria provided, single submitter	1

Candidate disease, gene and variant associations from pubmed:

Other disease, gene and variant associations from pubmed: