"Eurofins Ntd Llc (ga)"[submitter] AND "NDUFS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138479	NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)	NDUFS1 (L431V +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +5 more	GConflicting classifications of pathogenicity
Select item 289180	NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His)	NDUFS1 (L354H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593454	NM_005006.7(NDUFS1):c.560G>C (p.Ser187Thr)	NDUFS1 (S187T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214770	NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)	NDUFS1 (I177V +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 138474	NM_005006.7(NDUFS1):c.421-7A>G	NDUFS1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 281629	NM_005006.7(NDUFS1):c.154-11_154-9del	NDUFS1	Deletion (intron variant)	not provided +2 more	GBenign

ClinVar