"GeneDx"[submitter] AND "HSDL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 1279566	NC_000016.10:g.84145042A>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283046	NC_000016.10:g.84145087C>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1301511	NC_000016.10:g.84145122G>C	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

ClinVar