PUBMEDVariation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
26036949,22499341 NM_001199981.1(NDUFS1):c.650T>G (p.Val217Gly)4719NDUFS1Likely pathogenic786205666RCV000170569; NMedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:399250032207009730207009730-C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
NM_005006.6(NDUFS1):c.421-7A>G4719NDUFS1Conflicting interpretations of pathogenicity192949406RCV000296747; RCV000388644; RCV000127139; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207012392207012392-C0023264 256000 Leigh syndrome;
25741868 NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=)4719NDUFS1Conflicting interpretations of pathogenicity2230892RCV000298259; RCV000399898; RCV000676270; RCV000127145; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207003230207003230-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846delT4719NDUFS1Likely benign58253838RCV000329565; RCV000367850; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988063206988063-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*733A>G4719NDUFS1Likely benign6707707RCV000278615; RCV000389432; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988176206988176-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*457T>A4719NDUFS1Likely benign4147728RCV000342686; RCV000394556; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988452206988452-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*336G>T4719NDUFS1Likely benign1044120RCV000275804; RCV000368047; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988573206988573-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*256C>T4719NDUFS1Likely benign10198830RCV000333555; RCV000353381; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988653206988653-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.-47C>G4719NDUFS1Likely benign4147707RCV000371529; RCV000333207; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207024107207024107-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=)4719NDUFS1Benign/Likely benign2230890RCV000270808; RCV000381710; RCV000127141; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207008754207008754-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.551+14C>A4719NDUFS1Benign/Likely benign10206644RCV000293249; RCV000350546; RCV000127140; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207012241207012241-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.123C>T (p.Val41=)4719NDUFS1Benign/Likely benign2230888RCV000386489; RCV000275731; RCV000127147; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207017173207017173-C0023264 256000 Leigh syndrome;
25741868 NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=)4719NDUFS1Benign/Likely benign1801318RCV000358690; RCV000301574; RCV000676271; RCV000117709; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207006676207006676-C0023264 256000 Leigh syndrome;
25741868 NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=)4719NDUFS1Benign/Likely benign1127566RCV000385000; RCV000328157; RCV000676273; RCV000117710; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207008763207008763-C0023264 256000 Leigh syndrome;
25741868 NM_005006.6(NDUFS1):c.414T>C (p.Asp138=)4719NDUFS1Benign/Likely benign11548670RCV000395218; RCV000334929; RCV000676275; RCV000127138; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN517202; MedGen:CN1693742207012483207012483-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*966A>G4719NDUFS1Uncertain significance755776989RCV000301641; RCV000358744; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206987943206987943-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*866A>C4719NDUFS1Uncertain significance749790811RCV000307294; RCV000398472; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988043206988043-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*846dupT4719NDUFS1Uncertain significance58253838RCV000271891; RCV000364348; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988063206988063-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*756A>T4719NDUFS1Uncertain significance755460274RCV000275533; RCV000332991; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988153206988153-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*641A>G4719NDUFS1Uncertain significance886055501RCV000317468; RCV000374378; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988268206988268-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*561T>C4719NDUFS1Uncertain significance146538309RCV000339709; RCV000282324; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988348206988348-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*504G>A4719NDUFS1Uncertain significance548641207RCV000394554; RCV000286009; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988405206988405-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*438C>T4719NDUFS1Uncertain significance561980718RCV000364628; RCV000307565; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988471206988471-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*399G>A4719NDUFS1Uncertain significance77000728RCV000402213; RCV000310899; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988510206988510-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*158T>C4719NDUFS1Uncertain significance3770989RCV000318219; RCV000260695; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988751206988751-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*151T>C4719NDUFS1Uncertain significance533179154RCV000375427; RCV000283276; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988758206988758-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*93dupA4719NDUFS1Uncertain significance200446477RCV000378852; RCV000321842; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988816206988816-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.*27C>T4719NDUFS1Uncertain significance369746514RCV000288060; RCV000345317; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206988882206988882-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.2006A>G (p.Asn669Ser)4719NDUFS1Uncertain significance142716964RCV000397460; RCV000291718; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206991447206991447-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1516G>A (p.Val506Ile)4719NDUFS1Uncertain significance137889316RCV000397471; RCV000348996; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206997706206997706-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1393-7delT4719NDUFS1Uncertain significance760292289RCV000352020; RCV000313581; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092206997836206997836-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1363A>G (p.Ile455Val)4719NDUFS1Uncertain significance758095913RCV000262962; RCV000355346; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207003238207003238-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.1120A>G (p.Thr374Ala)4719NDUFS1Uncertain significance765436915RCV000266394; RCV000323881; RCV000519440; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN1693742207007423207007423-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.396C>A (p.Asp132Glu)4719NDUFS1Uncertain significance757139275RCV000299872; RCV000338484; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207012501207012501-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.364G>A (p.Ala122Thr)4719NDUFS1Uncertain significance886055502RCV000395226; RCV000303664; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207012533207012533-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15delT4719NDUFS1Uncertain significance34184317RCV000364669; RCV000307662; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207013835207013835-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.262-15dupT4719NDUFS1Uncertain significance34184317RCV000268364; RCV000360707; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA26092207013835207013835-C0023264 256000 Leigh syndrome;
NM_005006.6(NDUFS1):c.154-10_154-9delTT4719NDUFS1Uncertain significance568965659RCV000329832; RCV000272442; RCV000676276; NMedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C2936907, Orphanet:ORPHA2609; MedGen:CN5172022207014658207014659-C0023264 256000 Leigh syndrome;