"GeneDx"[submitter] AND "CPSF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3076873	NM_013291.3(CPSF1):c.3955G>A (p.Ala1319Thr)	CPSF1 (A1319T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 253782	GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3	ADCK5, ARHGAP39 +15 more	Copy number gain	See cases	GUncertain significance

ClinVar