"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COX20"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137020	NM_198076.6(COX20):c.42+9G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 377749	NM_198076.6(COX20):c.87C>T (p.Cys29=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 380082	NM_198076.6(COX20):c.157+3G>C	COX20	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GPathogenic/Likely pathogenic
Select item 214267	NM_198076.6(COX20):c.158-5_158-4insG	COX20	Insertion (intron variant)	not provided	GBenign
Select item 3380786	NM_198076.6(COX20):c.160A>G (p.Arg54Gly)	COX20 (R54G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2421254	NM_198076.6(COX20):c.175T>C (p.Cys59Arg)	COX20 (C14R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar