"GeneDx"[submitter] AND "BIRC2"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1261128	NM_001166.5(BIRC2):c.1517C>T (p.Ala506Val)	BIRC2 (A457V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253931	GRCh37/hg19 11q22.1-22.2(chr11:102064452-102249344)x3	YAP1, BIRC2 +1 more	Copy number gain	See cases	GUncertain significance

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