Related gene-specific medical variations for Gene (Select 9377) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076469	NM_004255.4(COX5A):c.94G>A (p.Ala32Thr)	COX5A, LOC130057573 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645552	NM_004255.4(COX5A):c.36C>T (p.Ala12=)	COX5A, LOC130057573	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606293	NM_004255.4(COX5A):c.65T>A (p.Leu22His)	COX5A, LOC130057573 (L22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578745	NM_004255.4(COX5A):c.56C>G (p.Pro19Arg)	LOC130057573, COX5A (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490055	NM_004255.4(COX5A):c.89G>A (p.Gly30Asp)	COX5A, LOC130057573 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380251	NM_004255.4(COX5A):c.95C>A (p.Ala32Asp)	COX5A, LOC130057573 (A32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343871	NM_004255.4(COX5A):c.16C>T (p.Leu6Phe)	COX5A, LOC130057573 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783061	NM_004255.4(COX5A):c.74C>G (p.Ser25Cys)	COX5A, LOC130057573 (S25C)	Single nucleotide variant (missense variant)	COX5A-related disorder +1 more	GLikely benign

ClinVar