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MSeqDR-LSDB
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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: PET100

Exome
External:

NCBI E ENSG00000229833 GeneCard GTR HGNC
Protein & RNA: Uniprot HPA GXA GTEx DC

Variants: MSeqDR MD-related 7(7)

, HGMD: , ClinVar: 76 (P/LP:5; Uncertain:26; With_conflicts:3), Leigh Syndrome related

Pubmed: 6 (literature mined), Leigh + PET100 , Mitochondrial + PET100 (search Title/Abstract)

Gene region 19:7694623..7696842

HGNC Gene: PET100, PET100 homolog; Alias_symbol: ; Previous_Symbols: C19orf79; ensembl_gene_id; ENSG00000229833; Refseq accession: NM_001171155; OMIM ID: 614770; CCDS_ids: CCDS54208; VEGA_ids: ; uniprot_ids: P0DJ07

Mitochondrial Diseases from MSeqDR, Mondo, OMIM, CTDBase:
- Disease Portal: 220110

1. causes condition MONDO:0009068 cytochrome-c oxidase deficiency disease, evidence: sequencing assay evidence inferred through variant
- Cross-reference: OMIM:220110; MESH:D030401; DOID:3762; GARD:0000048; ICD10:E88.8; NCIT:C98910; Orphanet:254905; SCTID:67434000; UMLS:C0268237

- Animal models for this disease (not necessarily for this gene):
-- FlyBase:FBal0232255 Cep89[KK103260], evidence: mutant phenotype evidence PMID:23575228;;
-- WormBase:WBGene00012895 cox-10, evidence: evidence used in automatic assertion PMID:19029536;;
-- WormBase:WBGene00022170 cox-6B, evidence: evidence used in automatic assertion PMID:19029536;;
-- MGI:5444474 Cox10/Cox10; Tg(Camk2a-cre)#Szi [involves: 129X1/SvJ * C57BL/6 * C57BL/6J * CBA], evidence: author statement supported by traceable reference used in manual assertion PMID:22914734;;
-- FlyBase:FBal0259522 COX4[KK107510], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0206598 COX5A[GD5167], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0199243 COX5B[GD6659], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0237082 COX7A[KK110870], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0209320 cype[GD908], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0215556 levy[1], evidence: mutant phenotype evidence PMID:24293544;;
-- FlyBase:FBal0235943 levy[KK108963], evidence: mutant phenotype evidence PMID:24293544;;
-- Coriell:GM23710 NIGMS-GM23710, evidence: ;;
-- WormBase:WBGene00015297 sco-1, evidence: evidence used in automatic assertion PMID:19029536;;
-- MGI:5758892 Sco1/Sco1; Speer6-ps1/Speer6-ps1<+> [involves: C57BL/6 * C57BL/6N, evidence: author statement supported by traceable reference used in manual assertion PMID:25683716;;
-- MGI:4413664 Sco2/Sco2 [129X1/SvJ-Sco2/Sco2], evidence: author statement supported by traceable reference used in manual assertion PMID:19837698;;
-- FlyBase:FBal0206030 Scox[GD898], evidence: mutant phenotype evidence PMID:25792727;;
-- WormBase:WBGene00021757 taco-1, evidence: evidence used in automatic assertion PMID:19029536;;
-- WormBase:WBGene00012693 Y39B6A.34, evidence: evidence used in automatic assertion PMID:19029536
2. causes condition MONDO:0016815 Leigh syndrome with leukodystrophy, evidence: imported manually asserted information used in automatic assertion inferred through variant;; is causal loss of function germline mutation of 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
All OMIM Disease:

220110; MeSH: C0268237, Mitochondrial complex IV deficiency, 220110

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	Condition_ID_type	Mode_of_inheritance	Allele_origin	Clinical_features	ClinVar_alleleid
1._MSCV_0018596	19:g.7694722G>C	000000002317095	PET100	Pathogenic	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not pro	MedGen:C0268237, OMIM:220110, Orphanet:ORPHA254905, SNOMED CT:67434000;MedGen:CN517202	19	7694722	7694722	G	C				19:g.7694722G>C		Mode_of_inheritance	germline		130979			;
2._MSCV_0018597	19:g.7696362C>T	000000002317096	PET100	Pathogenic	Congenital lactic acidosis;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C	Human Phenotype Ontology:HP:0004902, MedGen:C4025276;MedGen:C0268237, OMIM:220110, Orphanet:ORPHA254905	19	7696362	7696362	C	T				19:g.7696362C>T		Mode_of_inheritance	biparental;germline		133699			;

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: 25293719 Pubtator: 25293719	133699	NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)	100131801	PET100	Pathogenic/Likely pathogenic	C4025276 Congenital lactic acidosis;	MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905; Human Phenotype Ontology:HP:0004902,MedGen:C4025276\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055\|MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905	Cytochrome-c oxidase deficiency disease;Congenital lactic acidosis\|Mitochondrial complex 4 deficiency, nuclear type 12\|Cytochrome-c oxidase deficiency disease	RCV000144455\|RCV000240821\|RCV003330441;	587779779	19	7696362	7696362	NC_000019.9:g.7696362C>T	ClinGen:CA213091,OMIM:614770.0002	N	Aug 07, 2023	criteria provided, multiple submitters, no conflicts	4
2. Pubmed: Pubtator:	1490995	NM_001171155.2(PET100):c.1A>T (p.Met1Leu)	100131801	PET100	Pathogenic		MedGen:C3661900	not provided	RCV001956482;	977392512	19	7694720	7694720	7694720	-	N	Nov 23, 2021	criteria provided, single submitter	1
3. Pubmed: Pubtator:	1678029	NM_001171155.2(PET100):c.1A>G (p.Met1Val)	100131801	PET100	Pathogenic		MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	Mitochondrial complex 4 deficiency, nuclear type 12	RCV002250184;	977392512	19	7694720	7694720	7694720	-	N	May 04, 2022	criteria provided, single submitter	1
4. Pubmed: 24462369 Pubtator: 24462369	130979	NM_001171155.2(PET100):c.3G>C (p.Met1Ile)	100131801	PET100	Pathogenic	C0268237 220110 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;	MONDO:MONDO:0009068,MedGen:C5435656,OMIM:220110, Orphanet:254905\|MedGen:CN517202\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	Cytochrome-c oxidase deficiency disease\|not provided\|Mitochondrial complex 4 deficiency, nuclear type 12	RCV000111466\|RCV000413348\|RCV001261874;	587777839	19	7694722	7694722	NC_000019.9:g.7694722G>C	ClinGen:CA150832,OMIM:614770.0001	N	May 26, 2022	criteria provided, multiple submitters, no conflicts	4
5. Pubmed: Pubtator:	1952258	NM_001171155.2(PET100):c.115-3C>G	100131801	PET100	Pathogenic		Human Phenotype Ontology:HP:0012103,MedGen:C4023042	Abnormality of the mitochondrion	RCV003315455;	-1	19	7695706	7695706		-	N	Jan 22, 2023	no assertion criteria provided	1
6. Pubmed: Pubtator:	1208892	NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)	100131801	PET100	Conflicting interpretations of pathogenicity		MedGen:C3661900	not provided	RCV001594109;	184325854	19	7695505	7695505	7695505	-	N	Aug 31, 2022	criteria provided, conflicting interpretations	3
7. Pubmed: Pubtator:	1982359	NM_001171155.2(PET100):c.179G>A (p.Arg60Gln)	100131801	PET100	Conflicting interpretations of pathogenicity		MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	Inborn genetic diseases\|not provided	RCV002626918\|RCV002626917;	-1	19	7696399	7696399	NC_000019.9:g.7696399G>A	-	N	Oct 04, 2022	criteria provided, conflicting interpretations	2
8. Pubmed: Pubtator:	1311235	NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)	100131801	PET100	Conflicting interpretations of pathogenicity		MedGen:C3661900	not provided	RCV001776970;	570620177	19	7696417	7696417	7696417	-	N	Jul 25, 2022	criteria provided, conflicting interpretations	2
9. Pubmed: Pubtator:	1207147	NM_020196.3(XAB2):c.51+14G>A	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001587939;	4134810	19	7694349	7694349	7694349	-	N	Oct 17, 2018	criteria provided, single submitter	1
10. Pubmed: Pubtator:	377910	NM_001171155.2(PET100):c.-19G>C	100131801	PET100	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000423480;	1057522682	19	7694701	7694701	19:g.7694701G>C	ClinGen:CA16608319	N	Jul 01, 2016	criteria provided, single submitter	1
11. Pubmed: Pubtator:	508023	NM_001171155.2(PET100):c.-3G>A	100131801	PET100	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000612597;	1001603852	19	7694717	7694717	19:g.7694717G>A	ClinGen:CA304898367	N	Aug 04, 2017	criteria provided, single submitter	1
12. Pubmed: Pubtator:	2006904	NM_001171155.2(PET100):c.27+15G>A	100131801	PET100	Likely benign		MedGen:CN517202	not provided	RCV002676134;	-1	19	7694761	7694761	NC_000019.9:g.7694761G>A	-	N	Jul 25, 2022	criteria provided, single submitter	1
13. Pubmed: Pubtator:	1971524	NM_001171155.2(PET100):c.114+7A>G	100131801	PET100	Likely benign		MedGen:CN517202	not provided	RCV002630217;	-1	19	7695552	7695552	NC_000019.9:g.7695552A>G	-	N	Jul 16, 2022	criteria provided, single submitter	1
14. Pubmed: Pubtator:	1192215	NM_001171155.2(PET100):c.115-73T>A	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001564891;	117622602	19	7695636	7695636	7695636	-	N	Jun 29, 2018	criteria provided, single submitter	1
15. Pubmed: Pubtator:	669009	NM_001171155.2(PET100):c.115-28G>A	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV000839155;	148296387	19	7695681	7695681	19:g.7695681G>A	-	N	Jun 19, 2018	criteria provided, single submitter	1
16. Pubmed: Pubtator:	1555961	NM_001171155.2(PET100):c.115-9T>C	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV002188349;	1051588624	19	7695700	7695700	7695700	-	N	Sep 01, 2022	criteria provided, single submitter	1
17. Pubmed: Pubtator:	1547560	NM_001171155.2(PET100):c.138+11T>C	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV002081594;	2031266953	19	7695743	7695743	7695743	-	N	Jul 12, 2022	criteria provided, single submitter	1
18. Pubmed: Pubtator:	1209667	NM_001171155.2(PET100):c.138+26A>G	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001588778;	115635730	19	7695758	7695758	7695758	-	N	Aug 17, 2018	criteria provided, single submitter	1
19. Pubmed: Pubtator:	1201511	NM_001171155.2(PET100):c.139-161G>A	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001583323;	113124654	19	7696198	7696198	7696198	-	N	Oct 05, 2018	criteria provided, single submitter	1
20. Pubmed: Pubtator:	1173314	NM_001171155.2(PET100):c.139-99G>A	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001539310;	73921479	19	7696260	7696260	7696260	-	N	Jun 28, 2018	criteria provided, single submitter	1
21. Pubmed: Pubtator:	1202978	NM_001171155.2(PET100):c.139-64_139-63del	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001586631;	776957281	19	7696294	7696295	7696293	-	N	Dec 09, 2018	criteria provided, single submitter	1
22. Pubmed: Pubtator:	1970278	NM_001171155.2(PET100):c.139-18C>T	100131801	PET100	Likely benign		MedGen:CN517202	not provided	RCV002590087;	-1	19	7696341	7696341	NC_000019.9:g.7696341C>T	-	N	Sep 17, 2022	criteria provided, single submitter	1
23. Pubmed: Pubtator:	1995039	NM_001171155.2(PET100):c.139-17C>T	100131801	PET100	Likely benign		MedGen:CN517202	not provided	RCV002662940;	-1	19	7696342	7696342	NC_000019.9:g.7696342C>T	-	N	Mar 11, 2022	criteria provided, single submitter	1
24. Pubmed: Pubtator:	377911	NM_001171155.2(PET100):c.139-15C>T	100131801	PET100	Likely benign	CN169374 not specified;	MedGen:CN169374	not specified	RCV000430522;	1057522294	19	7696344	7696344	19:g.7696344C>T	ClinGen:CA16608320	N	May 09, 2016	criteria provided, single submitter	1
25. Pubmed: Pubtator:	507600	NM_001171155.2(PET100):c.139-11_139-9del	100131801	PET100	Likely benign	CN169374 not specified;	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	not specified\|not provided\|Mitochondrial complex 4 deficiency, nuclear type 12	RCV000603301\|RCV002060642\|RCV002498989;	748611501	19	7696347	7696349	NC_000019.9:g.7696348_7696350del	ClinGen:CA9142863	N	Mar 13, 2022	criteria provided, multiple submitters, no conflicts	3
26. Pubmed: Pubtator:	2134768	NM_001171155.2(PET100):c.174G>A (p.Arg58=)	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV002972575;	-1	19	7696394	7696394		-	N	Jun 04, 2022	criteria provided, single submitter	1
27. Pubmed: 28492532 Pubtator: 28492532	705343	NM_001171155.2(PET100):c.218C>G (p.Ser73Cys)	100131801	PET100	Likely benign		MedGen:CN517202	not provided	RCV000959522;	1270911557	19	7696438	7696438	19:g.7696438C>G	-	N	May 30, 2017	criteria provided, single submitter	1
28. Pubmed: Pubtator:	1195473	NM_001171155.2(PET100):c.*54G>T	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001571659;	114600858	19	7696496	7696496	7696496	-	N	Jun 28, 2018	criteria provided, single submitter	1
29. Pubmed: Pubtator:	1178436	NM_174895.3(PCP2):c.308G>A (p.Arg103Gln)	100131801	PET100	Likely benign		MedGen:C3661900	not provided	RCV001548327;	112367781	19	7696678	7696678		-	N	Aug 03, 2018	criteria provided, single submitter	1
30. Pubmed: 28492532, 25741868 Pubtator: 28492532 25741868	237120	NM_001171155.2(PET100):c.82G>A (p.Glu28Lys)	100131801	PET100	Benign/Likely benign	CN517202 not provided;	MedGen:C3661900	not provided	RCV000224474;	4134804	19	7695513	7695513	NC_000019.9:g.7695513G>A	ClinGen:CA9142840	N	Sep 01, 2023	criteria provided, multiple submitters, no conflicts	4
31. Pubmed: Pubtator:	507071	NM_001171155.2(PET100):c.201C>T (p.Arg67=)	100131801	PET100	Benign/Likely benign	CN169374 not specified;	MedGen:C3661900	not provided	RCV001697894;	375968935	19	7696421	7696421	19:g.7696421C>T	ClinGen:CA9142875	N	Sep 13, 2022	criteria provided, multiple submitters, no conflicts	2
32. Pubmed: Pubtator:	668992	NM_020196.3(XAB2):c.21C>T (p.Leu7=)	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000843617;	4134809	19	7694393	7694393		-	N	Jun 14, 2018	criteria provided, single submitter	1
33. Pubmed: Pubtator:	1228919	NC_000019.10:g.7629652A>G	100131801	PET100	Benign	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;	MedGen:C3661900	not provided	RCV001637761;	4134808	19	7694538	7694538		-	N	Jun 28, 2018	criteria provided, single submitter	1
34. Pubmed: Pubtator:	668994	NM_001171155.1(PET100):c.-135G>T	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000834933;	73921477	19	7694585	7694585	19:g.7694585G>T	-	N	Jun 16, 2018	criteria provided, single submitter	1
35. Pubmed: Pubtator:	1260696	NC_000019.10:g.7629716C>G	100131801	PET100	Benign	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;	MedGen:C3661900	not provided	RCV001680364;	794085	19	7694602	7694602		-	N	Jun 23, 2018	criteria provided, single submitter	1
36. Pubmed: Pubtator:	670103	NM_001171155.1(PET100):c.-58T>C	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000836224;	3760675	19	7694662	7694662	19:g.7694662T>C	-	N	Jun 16, 2018	criteria provided, single submitter	1
37. Pubmed: Pubtator:	669006	NM_001171155.2(PET100):c.28-193G>C	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000833454;	115357079	19	7695266	7695266	19:g.7695266G>C	-	N	Jun 19, 2018	criteria provided, single submitter	1
38. Pubmed: Pubtator:	1262616	NM_001171155.2(PET100):c.28-123A>G	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV001687013;	3760676	19	7695336	7695336	7695336	-	N	Jun 23, 2018	criteria provided, single submitter	1
39. Pubmed: Pubtator:	1216395	NM_001171155.2(PET100):c.114+75T>C	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV001608586;	11260004	19	7695620	7695620	7695620	-	N	Jun 23, 2018	criteria provided, single submitter	1
40. Pubmed: Pubtator:	1261618	NM_001171155.2(PET100):c.138+109A>G	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV001686221;	11881820	19	7695841	7695841	7695841	-	N	Jun 29, 2018	criteria provided, single submitter	1
41. Pubmed: Pubtator:	670177	NM_001171155.2(PET100):c.138+245C>G	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000843623;	3760677	19	7695977	7695977	19:g.7695977C>G	-	N	Jun 14, 2018	criteria provided, single submitter	1
42. Pubmed: Pubtator:	670415	NM_001171155.2(PET100):c.139-221G>A	100131801	PET100	Benign		MedGen:C3661900	not provided	RCV000843625;	11882197	19	7696138	7696138	19:g.7696138G>A	-	N	Jun 14, 2018	criteria provided, single submitter	1
43. Pubmed: 28492532 Pubtator: 28492532	377914	NM_001171155.2(PET100):c.199C>T (p.Arg67Cys)	100131801	PET100	Benign	CN169374 not specified;	MedGen:CN169374\|MedGen:C3661900	not specified\|not provided	RCV000445181\|RCV000949042;	117661715	19	7696419	7696419	19:g.7696419C>T	ClinGen:CA9142873	N	Oct 19, 2022	criteria provided, multiple submitters, no conflicts	2
44. Pubmed: Pubtator:	2149274	NM_001171155.2(PET100):c.82G>C (p.Glu28Gln)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV003021141;	-1	19	7695513	7695513	NC_000019.9:g.7695513G>C	-	N	Sep 01, 2022	criteria provided, single submitter	1
45. Pubmed: Pubtator:	1447720	NM_001171155.2(PET100):c.114+4G>A	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV001924753;	963397184	19	7695549	7695549	7695549	-	N	Dec 02, 2021	criteria provided, single submitter	1
46. Pubmed: Pubtator:	1458470	NM_001171155.2(PET100):c.118_119delinsTT (p.Glu40Leu)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV002025496;	2146193260	19	7695712	7695713	7695712	-	N	Feb 23, 2022	criteria provided, single submitter	1
47. Pubmed: Pubtator:	2077136	NM_001171155.2(PET100):c.138+1G>T	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV002863259;	-1	19	7695733	7695733	NC_000019.9:g.7695733G>T	-	N	Aug 16, 2022	criteria provided, single submitter	1
48. Pubmed: Pubtator:	1497282	NM_001171155.2(PET100):c.138+3A>T	100131801	PET100	Uncertain significance		MedGen:C3661900\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	not provided\|Mitochondrial complex 4 deficiency, nuclear type 12	RCV001987233\|RCV002484670;	756326147	19	7695735	7695735	7695735	-	N	Jul 19, 2022	criteria provided, multiple submitters, no conflicts	2
49. Pubmed: Pubtator:	2123733	NM_001171155.2(PET100):c.139C>T (p.Leu47Phe)	100131801	PET100	Uncertain significance		MedGen:CN517202	not provided	RCV002972042;	-1	19	7696359	7696359	NC_000019.9:g.7696359C>T	-	N	Jan 04, 2022	criteria provided, single submitter	1
50. Pubmed: Pubtator:	2220344	NM_001171155.2(PET100):c.160A>C (p.Lys54Gln)	100131801	PET100	Uncertain significance		MeSH:D030342,MedGen:C0950123	Inborn genetic diseases	RCV002727908;	-1	19	7696380	7696380	NC_000019.9:g.7696380A>C	-	N	Jun 11, 2021	criteria provided, single submitter	1
51. Pubmed: Pubtator:	2013604	NM_001171155.2(PET100):c.172C>T (p.Arg58Trp)	100131801	PET100	Uncertain significance		MedGen:CN517202	not provided	RCV002716180;	-1	19	7696392	7696392	NC_000019.9:g.7696392C>T	-	N	Apr 11, 2022	criteria provided, single submitter	1
52. Pubmed: Pubtator:	1881244	NM_001171155.2(PET100):c.173G>A (p.Arg58Gln)	100131801	PET100	Uncertain significance		MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	not provided\|Inborn genetic diseases	RCV003071700\|RCV003349009;	-1	19	7696393	7696393	NC_000019.9:g.7696393G>A	-	N	Jun 22, 2023	criteria provided, multiple submitters, no conflicts	2
53. Pubmed: Pubtator:	2830648	NM_001171155.2(PET100):c.178C>T (p.Arg60Trp)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV003442386;	-1	19	7696398	7696398		-	N	May 09, 2023	criteria provided, single submitter	1
54. Pubmed: Pubtator:	2171046	NM_001171155.2(PET100):c.179G>C (p.Arg60Pro)	100131801	PET100	Uncertain significance		MedGen:CN517202	not provided	RCV003042423;	-1	19	7696399	7696399	NC_000019.9:g.7696399G>C	-	N	Mar 13, 2022	criteria provided, single submitter	1
55. Pubmed: Pubtator:	1400877	NM_001171155.2(PET100):c.181C>T (p.Arg61Trp)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV002011175;	968644021	19	7696401	7696401	7696401	-	N	Jun 02, 2022	criteria provided, single submitter	1
56. Pubmed: Pubtator:	1417689	NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del)	100131801	PET100	Uncertain significance		MedGen:C3661900\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	not provided\|Mitochondrial complex 4 deficiency, nuclear type 12	RCV001894740\|RCV002490042;	1322397607	19	7696403	7696405	7696402	-	N	Mar 15, 2022	criteria provided, multiple submitters, no conflicts	2
57. Pubmed: Pubtator:	2739254	NM_001171155.2(PET100):c.184G>T (p.Glu62Ter)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV003318902;	-1	19	7696404	7696404		-	N	Jan 25, 2023	criteria provided, single submitter	1
58. Pubmed: Pubtator:	1387127	NM_001171155.2(PET100):c.185A>T (p.Glu62Val)	100131801	PET100	Uncertain significance		MedGen:C3661900	not provided	RCV001940660;	746204531	19	7696405	7696405	7696405	-	N	Jul 12, 2022	criteria provided, single submitter	1
59. Pubmed: Pubtator:	2098813	NM_001171155.2(PET100):c.193C>T (p.Leu65Phe)	100131801	PET100	Uncertain significance		MedGen:CN517202	not provided	RCV002895497;	-1	19	7696413	7696413	NC_000019.9:g.7696413C>T	-	N	Jan 03, 2022	criteria provided, single submitter	1
60. Pubmed: Pubtator:	1688149	NM_001171155.2(PET100):c.200G>A (p.Arg67His)	100131801	PET100	Uncertain significance		MedGen:C3661900\|MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055	not provided\|Mitochondrial complex 4 deficiency, nuclear type 12	RCV002265375\|RCV002481075;	556380451	19	7696420	7696420	7696420	-	N	Jan 11, 2022	criteria provided, multiple submitters, no conflicts	2
61. Pubmed: Pubtator:	2002221	NM_001171155.2(PET100):c.221G>A (p.Ter74=)	100131801	PET100	Uncertain significance		MedGen:CN517202	not provided	RCV002639883;	-1	19	7696441	7696441	NC_000019.9:g.7696441G>A	-	N	May 27, 2022	criteria provided, single submitter	1

Candidate disease, gene and variant associations from pubmed:

Other disease, gene and variant associations from pubmed: