"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HPS6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812730	NM_024747.6(HPS6):c.1A>G (p.Met1Val)	HPS6, LOC130004578 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 435463	NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)	HPS6, LOC130004578 (P85L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 261765	NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)	HPS6 (G211A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 627122	NM_024747.6(HPS6):c.692C>G (p.Pro231Arg)	HPS6 (P231R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 879248	NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)	HPS6 (S449C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1438468	NM_024747.6(HPS6):c.1417G>A (p.Val473Met)	HPS6 (V473M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1524471	NM_024747.6(HPS6):c.2260C>G (p.Leu754Val)	HPS6 (L754V)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 6 +1 more	GUncertain significance

ClinVar