"Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU Münc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +15 more	GPathogenic; risk factor
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 597184	NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	GBA1, LOC106627981 (S310G +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia +7 more	GPathogenic/Likely pathogenic
Select item 4298	NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	GBA1, LOC106627981 (F255Y +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +8 more	GPathogenic/Likely pathogenic
Select item 633240	NM_000157.4(GBA1):c.762-1G>C	GBA1, LOC106627981	Single nucleotide variant (splice acceptor variant)	Parkinson disease, late-onset +7 more	GPathogenic/Likely pathogenic
Select item 93459	NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)	GBA1, LOC106627981 (G241R +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic

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