"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1049263	NM_032383.5(HPS3):c.159G>T (p.Gln53His)	HPS3 (Q53H)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 3 +1 more	GUncertain significance
Select item 740601	NM_032383.5(HPS3):c.1773G>A (p.Thr591=)	HPS3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1049637	NM_032383.5(HPS3):c.2830T>G (p.Cys944Gly)	CP, HPS3 (C779G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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ClinVar