"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412666	NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)	HPS4 (Q511* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228266	NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	HPS4 (Q373* +2 more)	Single nucleotide variant (nonsense +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 4129	NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)	HPS4	Duplication (inframe_insertion +1 more)	not specified +2 more	GUncertain significance
Select item 1204924	NM_022081.6(HPS4):c.706+1G>A	HPS4	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 4130	NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	HPS4 (R217* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2412667	NM_022081.6(HPS4):c.554G>A (p.Arg185His)	HPS4 (R185H +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GUncertain significance
Select item 21678	NM_022081.6(HPS4):c.461A>G (p.His154Arg)	HPS4 (H154R +1 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome 4	GUncertain significance
Select item 2412668	NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)	HPS4 (Y114* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2138424	NM_022081.6(HPS4):c.47del (p.Asn16fs)	HPS4 (N11fs +1 more)	Deletion (frameshift variant +1 more)	Hermansky-Pudlak syndrome 4 +1 more	GPathogenic/Likely pathogenic