"GeneDx"[submitter] AND "BRWD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1302861	NM_033656.4(BRWD1):c.5096T>C (p.Leu1699Pro)	BRWD1 (L1699P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1301440	NM_033656.4(BRWD1):c.4531T>C (p.Ser1511Pro)	BRWD1 (S1511P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 507001	NM_033656.4(BRWD1):c.2256-12T>G	BRWD1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1177969	NM_033656.4(BRWD1):c.50-14T>C	BRWD1, LOC130066681	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

ClinVar