CPVL-AS2[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 3076952	NM_031311.5(CPVL):c.1423G>T (p.Val475Phe)	CPVL, CPVL-AS2 (V489F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733777	NM_031311.5(CPVL):c.1391G>A (p.Arg464Gln)	CPVL, CPVL-AS2 (R286Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

ClinVar