"Bionano Laboratories"[submitter] AND "VPS13B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689222	GRCh37/hg19 8q22.2(chr8:100032341-100088337)x1	VPS13B	Copy number loss	not provided	GUncertain significance
Select item 689220	GRCh37/hg19 8q22.2(chr8:99501354-100350153)x3	OSR2, STK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689112	GRCh37/hg19 8q22.2(chr8:100120427-100423020)x1	VPS13B	Copy number loss	not provided	GPathogenic
Select item 688896	GRCh37/hg19 8q22.2(chr8:99991771-100220890)x1	VPS13B	Copy number loss	not provided	GPathogenic
Select item 688443	GRCh37/hg19 8q22.2(chr8:99681689-100173606)x3	OSR2, STK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687432	GRCh37/hg19 8q22.2(chr8:100091912-100198780)x1	VPS13B	Copy number loss	not provided	GPathogenic
Select item 686925	GRCh37/hg19 8q22.2(chr8:100356422-100777020)x1	VPS13B	Copy number loss	not provided	GUncertain significance

ClinVar