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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 1244384	NM_013439.3(PILRA):c.232A>G (p.Arg78Gly)	LOC129998933, PILRA (R78G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	GUncertain significance

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