"Genome-Nilou Lab"[submitter] AND "CP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163669	NM_032383.5(HPS3):c.2526C>T (p.His842=)	CP, HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 262024	NM_032383.5(HPS3):c.2796+50C>T	CP, HPS3	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 3 +2 more	GBenign
Select item 1185221	NM_032383.5(HPS3):c.2887+81G>A	CP, HPS3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 284744	NM_000096.4(CP):c.2554+17G>A	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase +2 more	GBenign/Likely benign
Select item 343760	NM_000096.4(CP):c.2286-15del	CP	Deletion (intron variant)	Deficiency of ferroxidase +1 more	GBenign
Select item 198992	NM_000096.4(CP):c.1632A>T (p.Glu544Asp)	CP (E544D)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign

ClinVar