"Clinical Genetics, Academic Medical Center"[submitter] AND "HPS5"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21821	NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)	HPS5 (T1098I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 262986	NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)	HPS5 (M1015I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 303877	NM_181507.2(HPS5):c.2441-8T>C	HPS5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 303888	NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)	HPS5 (G501R +1 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 5 +3 more	GBenign/Likely benign
Select item 303896	NM_181507.2(HPS5):c.309A>G (p.Glu103=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	Hermansky-Pudlak syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 522309	NM_181507.2(HPS5):c.240C>T (p.Val80=)	HPS5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign

ClinVar