C2828721[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41490	NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	GBA2 (R873H)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 41485	NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	GBA2 (R630W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 92166	NM_020944.3(GBA2):c.1780G>C (p.Asp594His)	GBA2 (D594H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 41489	NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)	GBA2 (R340*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46 +1 more	GPathogenic
Select item 41486	NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)	GBA2 (R234*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 638294	NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)	GBA2 (W173*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 638293	NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)	GBA2 (Y121*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic

ClinVar