"GeneDx"[submitter] AND "LOC119266102"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 1232698	NM_005534.3(IFNGR2):c.-416A>C	IFNGR2, LOC119266102	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1289403	NM_005534.3(IFNGR2):c.-406T>C	IFNGR2, LOC119266102	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277058	NM_005534.4(IFNGR2):c.-129T>C	LOC119266102, IFNGR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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