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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 1175530	NM_000519.4(HBD):c.315+146T>G	HBD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 15070	NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	HBD, LOC106099063 (A28S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1288272	NC_000011.10:g.5234670C>T	HBD, LOC109951029	Single nucleotide variant	not provided	GBenign
Select item 1236912	NC_000011.10:g.5234682A>G	HBD, LOC109951029	Single nucleotide variant	not provided	GBenign
Select item 253972	GRCh37/hg19 11p15.4(chr11:5248267-5255227)x4	HBD, HBB	Copy number gain	See cases	GUncertain significance

ClinVar