"GeneDx"[submitter] AND "AIMP2"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 151061	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3	AIMP2, CCZ1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 182813	NM_000535.6(PMS2):c.-33C>T	AIMP2, PMS2	Single nucleotide variant (non-coding transcript variant)	not specified	GBenign/Likely benign
Select item 1168237	NM_006303.4(AIMP2):c.342+4G>A	AIMP2	Single nucleotide variant (intron variant)	not provided	GBenign

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