"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NDUFV1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14057	NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	NDUFV1 (R59* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 451087	NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys)	NDUFV1 (R152C +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 1460879	NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val)	LOC126861242, NDUFV1 (I354V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372716	NM_007103.4(NDUFV1):c.1162+4A>C	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 14056	NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	LOC126861242, NDUFV1 (T423M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +4 more	GPathogenic/Likely pathogenic
Select item 800963	NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)	LOC126861242, NDUFV1 (L438M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar