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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145988	GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3	CCDC92B, CLUH +17 more	Copy number gain	See cases	GPathogenic
Select item 60097	GRCh38/hg38 17p13.3(chr17:2452259-2691244)x3	CLUH, LOC105371490 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 673336	NM_001366661.1(CLUH):c.2012C>T (p.Ala671Val)	CLUH (A633V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 680425	NM_001366661.1(CLUH):c.1962-7dup	CLUH	Duplication (intron variant)	not provided	GLikely benign
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic

ClinVar