"Ambry Genetics"[submitter] AND "COX7A2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269059	NM_001366293.2(COX7A2):c.217C>A (p.Leu73Met)	COX7A2 (L73M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331700	NM_001366293.2(COX7A2):c.145G>A (p.Val49Ile)	COX7A2 (V49I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2322581	NM_001366293.2(COX7A2):c.142G>C (p.Gly48Arg)	COX7A2 (G48R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269057	NM_001366293.2(COX7A2):c.26G>A (p.Arg9His)	COX7A2 (R9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508105	NM_001366293.2(COX7A2):c.25C>T (p.Arg9Cys)	COX7A2 (R9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238994	NM_001366293.2(COX7A2):c.8G>A (p.Arg3Gln)	COX7A2, LOC129996731 (R3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608876	NM_001865.6(COX7A2):c.-77A>G	COX7A2, LOC129996731	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326123	NM_001865.6(COX7A2):c.-80C>T	COX7A2, LOC129996731	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334756	NM_001865.6(COX7A2):c.-90A>T	COX7A2, LOC129996731	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance