"Baylor Genetics"[submitter] AND "NDUFS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +3 more	GUncertain significance
Select item 214800	NM_001377299.1(NDUFS2):c.393+5G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 1030813	NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys)	NDUFS2 (Y141C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1032908	NM_001377299.1(NDUFS2):c.628-17del	NDUFS2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378254	NM_001377299.1(NDUFS2):c.1355-4C>G	NDUFS2	Single nucleotide variant (3 prime UTR variant +2 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic

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