"OMIM"[submitter] AND "NDUFS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50922	NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn)	NDUFS1 (D619N +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 31914	NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala)	NDUFS1 (T595A +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 50923	NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter)	NDUFS1 (R557* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 50924	NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)	NDUFS1 (R408C +4 more)	Single nucleotide variant (missense variant)	NDUFS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 14231	NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly)	NDUFS1 (D252G +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 14233	NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)	NDUFS1 (L231V +4 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 14230	NM_005006.7(NDUFS1):c.666_668del (p.Ile223del)	NDUFS1 (I223del +4 more)	Deletion (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic

ClinVar