"Centogene AG - the Rare Disease Company"[submitter] AND "GBA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333747	NM_000157.4(GBA1):c.1586A>G (p.His529Arg)	GBA1, LOC106627981 (H442R +2 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	not specified +9 more	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +14 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)	Gaucher disease perinatal lethal +12 more	GPathogenic/Likely pathogenic; risk factor
Select item 1333748	NM_000157.4(GBA1):c.695G>A (p.Gly232Glu)	GBA1, LOC106627981 (G145E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4314	NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	GBA1, LOC106627981 (N227S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease +8 more	GPathogenic
Select item 197702	NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)	GBA1, LOC106627981 (S146L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar