"GeneDx"[submitter] AND "WBP2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1239008	NM_012478.4(WBP2):c.733-24G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243088	NM_012478.4(WBP2):c.681C>T (p.Ala227=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1224610	NM_012478.4(WBP2):c.656-117T>C	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780452	NM_012478.4(WBP2):c.594G>A (p.Pro198=)	WBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287031	NM_012478.4(WBP2):c.533-77C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264383	NM_012478.4(WBP2):c.305-5T>C	WBP2	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 107 +1 more	GBenign
Select item 1268857	NM_012478.4(WBP2):c.168+36T>C	WBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222746	NM_012478.4(WBP2):c.60-41C>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234306	NM_012478.4(WBP2):c.60-42C>T	WBP2	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 107 +1 more	GBenign
Select item 1295006	NM_012478.4(WBP2):c.60-123G>A	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273076	NM_012478.4(WBP2):c.59+207G>T	WBP2	Single nucleotide variant (intron variant)	not provided	GBenign