"GeneDx"[submitter] AND "KLRK1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146044	GRCh38/hg38 12p13.2(chr12:10273008-10633696)x1	EIF2S3B, KLRC1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 1238157	NM_001199805.1(KLRC4-KLRK1):c.*348C>G	KLRC4-KLRK1, KLRK1 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	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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