ClinVar for MedGen (Select 1773430) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1645067	NM_004074.3(COX8A):c.174C>A (p.Ile58=)	COX8A	Single nucleotide variant (synonymous variant)	COX8A-related condition +2 more	GBenign/Likely benign
Select item 1571647	NM_004074.3(COX8A):c.93G>T (p.Pro31=)	LOC130005904, COX8A	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 15 +1 more	GLikely 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

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