"Genome-Nilou Lab"[submitter] AND "HPS4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163670	NM_022081.6(HPS4):c.1875G>T (p.Gln625His)	HPS4 (Q625H +2 more)	Single nucleotide variant (missense variant +2 more)	Hermansky-Pudlak syndrome 4 +3 more	GBenign
Select item 163671	NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)	HPS4 (H606Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 163672	NM_022081.6(HPS4):c.1654G>A (p.Val552Met)	HPS4 (V552M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 163673	NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)	HPS4 (L443V +2 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome +3 more	GBenign
Select item 261538	NM_022081.6(HPS4):c.707-28T>C	HPS4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261537	NM_022081.6(HPS4):c.706+39G>T	HPS4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 163674	NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)	HPS4 (E229G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign

ClinVar