C2931875[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5279	NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	HPS1 (E666* +6 more)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome	GLikely pathogenic
Select item 627174	NM_000195.5(HPS1):c.1857+2T>C	HPS1	Single nucleotide variant (splice donor variant)	Hermansky-Pudlak syndrome +3 more	GPathogenic/Likely pathogenic
Select item 21097	NM_000195.5(HPS1):c.1744-2A>C	HPS1	Single nucleotide variant (splice acceptor variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 812729	NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	HPS1 (F421L +6 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome	GUncertain significance
Select item 21091	NM_000195.5(HPS1):c.1189del (p.Gln397fs)	HPS1 (Q241fs +6 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	Hermansky-Pudlak syndrome +2 more	GPathogenic/Likely pathogenic

ClinVar