"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NDUFS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333779	NM_005006.7(NDUFS1):c.*27C>T	NDUFS1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 417877	NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)	NDUFS1 (T303S +4 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GUncertain significance
Select item 1416216	NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr)	NDUFS1 (S109T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1201222	NM_005006.7(NDUFS1):c.154-33dup	NDUFS1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1284469	NM_005006.7(NDUFS1):c.154-13_154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5	GLikely benign
Select item 559163	NM_005006.7(NDUFS1):c.154-9del	NDUFS1	Deletion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 5 +1 more	GLikely benign
Select item 626277	NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)	NDUFS1 (R22* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 5	GPathogenic
Select item 800992	NM_005006.7(NDUFS1):c.-5+236T>C	NDUFS1 (L10P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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