Related gene-specific medical variations for Gene (Select 1351) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2970717	NM_004074.3(COX8A):c.114+12G>A	COX8A, LOC130005904	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132910	NM_004074.3(COX8A):c.114+20G>A	COX8A, LOC130005904	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993468	NM_004074.3(COX8A):c.56T>C (p.Leu19Pro)	COX8A, LOC130005904 (L19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947488	NM_004074.3(COX8A):c.6C>T (p.Ser2=)	COX8A, LOC130005904	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912438	NM_004074.3(COX8A):c.26T>A (p.Leu9Gln)	COX8A, LOC130005904 (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655015	NM_004074.3(COX8A):c.114+17G>A	COX8A, LOC130005904	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 15 +1 more	GLikely benign
Select item 1571647	NM_004074.3(COX8A):c.93G>T (p.Pro31=)	COX8A, LOC130005904	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 771443	NM_004074.3(COX8A):c.67C>T (p.Arg23Cys)	COX8A, LOC130005904 (R23C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 709505	NM_004074.3(COX8A):c.111C>A (p.Ile37=)	COX8A, LOC130005904	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 673121	NM_004074.3(COX8A):c.22C>T (p.Leu8=)	COX8A, LOC130005904	Single nucleotide variant (synonymous variant)	not provided	GBenign