"Revvity Omics, Revvity"[submitter] AND "CP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1067518	NM_032383.5(HPS3):c.2589+2T>C	CP, HPS3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 548481	NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	CP, HPS3 (E913fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2083493	NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)	CP, HPS3 (P751R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1322157	NM_000096.4(CP):c.2879-2A>G	CP	Single nucleotide variant (splice acceptor variant)	Deficiency of ferroxidase	GPathogenic
Select item 1373757	NM_000096.4(CP):c.2677T>G (p.Leu893Val)	CP (L893V)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 952512	NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)	CP (Y890*)	Single nucleotide variant (nonsense +1 more)	Deficiency of ferroxidase	GPathogenic
Select item 2234185	NM_000096.4(CP):c.1333C>T (p.His445Tyr)	CP (H445Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase +1 more	GUncertain significance
Select item 2440519	NM_000096.4(CP):c.1169T>C (p.Ile390Thr)	CP (I390T)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance

ClinVar