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

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 1277615	NM_002208.5(ITGAE):c.1445G>A (p.Arg482Gln)	ITGAE (R482Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253683	GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3	ASPA, CTNS +8 more	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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