PUBMED	Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
14729820	NM_004551.2(NDUFS3):c.434C>T (p.Thr145Ile)	4722	NDUFS3	Pathogenic	28939714	RCV000006390;	N	OMIM:618230	11	47603692	47603692				OMIM Allelic Variant:603846.0001	C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
22499348,14729820	NM_004551.2(NDUFS3):c.595C>T (p.Arg199Trp)	4722	NDUFS3	Pathogenic	104894270	RCV000006391;	N	OMIM:618230	11	47603988	47603988				OMIM Allelic Variant:603846.0002	C1838951 Leigh syndrome due to mitochondrial complex I deficiency;
	NM_004551.2(NDUFS3):c.79C>T (p.Pro27Ser)	4722	NDUFS3	Conflicting interpretations of pathogenicity	368907187	RCV000342182; RCV000403906; RCV000197472;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47600832	47600832				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.91T>C (p.Leu31=)	4722	NDUFS3	Conflicting interpretations of pathogenicity	770306617	RCV000358793; RCV000301677; RCV000616791;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47600844	47600844				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.628-7C>T	4722	NDUFS3	Conflicting interpretations of pathogenicity	11039306	RCV000292090; RCV000383892; RCV000127156;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN169374	11	47605859	47605859				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.-41T>C	4722	NDUFS3	Uncertain significance	750965789	RCV000290487; RCV000347926;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47600603	47600603				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.-30C>T	4722	NDUFS3	Uncertain significance	375483884	RCV000392871; RCV000308294;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47600614	47600614				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.190T>C (p.Tyr64His)	4722	NDUFS3	Uncertain significance	886048391	RCV000261687; RCV000300392;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602133	47602133				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.381+5G>T	4722	NDUFS3	Uncertain significance	886048392	RCV000352949; RCV000261462;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602541	47602541				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.381+6T>C	4722	NDUFS3	Uncertain significance	377579231	RCV000332963; RCV000389911;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602542	47602542				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.475G>C (p.Val159Leu)	4722	NDUFS3	Uncertain significance	148331180	RCV000331648; RCV000274500;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47603733	47603733				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.657G>A (p.Val219=)	4722	NDUFS3	Uncertain significance	377323760	RCV000325919; RCV000382544;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47605895	47605895				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.753T>G (p.Ser251Arg)	4722	NDUFS3	Uncertain significance	752314902	RCV000285816; RCV000342978;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47605991	47605991				-	C0023264 256000 Leigh syndrome;
	NM_004551.2(NDUFS3):c.783T>C (p.Pro261=)	4722	NDUFS3	Uncertain significance	117981655	RCV000284678; RCV000406732;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47606021	47606021				-	C0023264 256000 Leigh syndrome;
25741868	NM_004551.2(NDUFS3):c.204C>G (p.Ile68Met)	4722	NDUFS3	Uncertain significance	886044765	RCV000293525; RCV000293525;	N	MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609	11	47602147	47602147				-	C0023264 256000 Leigh syndrome;