"GeneDx"[submitter] AND "BUB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 432800	NM_004336.5(BUB1):c.2395G>A (p.Ala799Thr)	BUB1 (A799T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

ClinVar