"GeneDx"[submitter] AND "YBEY"[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 403613	NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu)	MCM3AP, YBEY (S102L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	See cases	GPathogenic
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 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 253363	GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1	C21orf58, COL6A2 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 253347	GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3	C21orf58, COL18A1 +15 more	Copy number gain	See cases	GLikely pathogenic

ClinVar