C4748754[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 3238827	NM_005006.7(NDUFS1):c.1717G>A (p.Gly573Ser)	NDUFS1 (G462S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GUncertain significance
Select item 333781	NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	NDUFS1 (V506I +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1030868	NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala)	NDUFS1 (T330A +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GUncertain significance
Select item 14232	NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	NDUFS1 (R241W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429933	NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)	NDUFS1 (V228A +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GPathogenic/Likely pathogenic

ClinVar