"Baylor Genetics"[submitter] AND "TACO1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033410	NM_016360.4(TACO1):c.97dup (p.Arg33fs)	TACO1 (R33fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 1029447	NM_016360.4(TACO1):c.476A>G (p.Lys159Arg)	TACO1 (K159R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic

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