C0268251[trait identifier] AND "Foundation for Research in Genetics an - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +9 more	GPathogenic
Select item 93449	NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)	GBA1, LOC106627981 (L483R +2 more)	Single nucleotide variant (missense variant)	GBA-related disorders +6 more	GPathogenic/Likely pathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	GBA1-related condition +15 more	GPathogenic; risk factor
Select item 4293	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1, LOC106627981 (D448H +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 375274	NM_000157.4(GBA1):c.835C>G (p.Leu279Val)	GBA1, LOC106627981 (L279V +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type III	GUncertain significance
Select item 4321	NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)	GBA1, LOC106627981 (R87W)	Single nucleotide variant (missense variant +1 more)	Gaucher disease perinatal lethal +9 more	GPathogenic

ClinVar