"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COA8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 381843	NM_001370595.2(COA8):c.8T>C (p.Val3Ala)	COA8 (V3A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 379942	NM_001370595.2(COA8):c.40C>G (p.Pro14Ala)	COA8 (P14A)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +2 more	GBenign
Select item 559337	NM_001370595.2(COA8):c.101G>T (p.Arg34Leu)	COA8 (R34L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 379943	NM_001370595.2(COA8):c.111G>A (p.Thr37=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2683787	NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)	COA8 (Y62fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 380180	NM_001370595.2(COA8):c.351A>G (p.Leu117=)	COA8	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 559338	NM_001370595.2(COA8):c.476+7G>A	COA8	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar