C1838979[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810299	NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)	NDUFAF7 (A308V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex I deficiency	Gnot provided
Select item 353890	NM_002495.4(NDUFS4):c.351-11_351-8del	NDUFS4	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585028	NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)	NDUFV1 (N164S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency	Gnot provided
Select item 214874	NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)	NUBPL (V182A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214203	NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe)	LOC130065433, NDUFAF5 (S31F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 265061	NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	NDUFAF5 (K109N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 36974	NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)	LOC130068621, NDUFA1 (G32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign

ClinVar