"GeneDx"[submitter] AND "HUS1B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 144907	GRCh38/hg38 6p25.3(chr6:490850-700078)x3	EXOC2, HUS1B +7 more	Copy number gain	See cases	GBenign
Select item 1178804	NM_018303.6(EXOC2):c.-43-18694C>A	EXOC2, HUS1B (H130Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 253658	GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	IRF4, GMDS +6 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic

ClinVar