"USP8-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705722	NM_005154.5(USP8):c.634G>A (p.Asp212Asn)	USP8 (D212N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GLikely benign
Select item 767306	NM_005154.5(USP8):c.762G>A (p.Glu254=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GLikely benign
Select item 2629055	NM_005154.5(USP8):c.964C>T (p.Arg322Ter)	USP8 (R245* +1 more)	Single nucleotide variant (nonsense)	USP8-related disorder	GUncertain significance
Select item 2852438	NM_005154.5(USP8):c.965G>A (p.Arg322Gln)	USP8 (R245Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 458313	NM_005154.5(USP8):c.1448G>A (p.Arg483Gln)	USP8 (R483Q +1 more)	Single nucleotide variant (missense variant)	USP8-related disorder +1 more	GBenign
Select item 704832	NM_005154.5(USP8):c.1675C>T (p.His559Tyr)	USP8 (H482Y +1 more)	Single nucleotide variant (missense variant)	USP8-related disorder +1 more	GBenign/Likely benign

ClinVar