"GeneDx"[submitter] AND "A2M"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152932	GRCh38/hg38 12p13.31(chr12:8839030-9134304)x3	A2M, A2M-AS1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 18171	NM_000014.6(A2M):c.2998A>G (p.Ile1000Val)	A2M, KLRG1 (I1000V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402328	NM_000014.6(A2M):c.2126-6_2126-2del	A2M, KLRG1	Deletion (splice acceptor variant)	not specified +1 more	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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