C3160718[trait identifier] AND "Centre for Mendelian Genomics, Univers - 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 +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)	Gaucher disease +9 more	GPathogenic/Likely pathogenic
Select item 4290	NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	GBA1, LOC106627981 (N409S +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +13 more	GPathogenic/Likely pathogenic; risk factor
Select item 93447	NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	GBA1, LOC106627981 (T408M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +3 more	GConflicting classifications of pathogenicity
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign; risk factor
Select item 4318	NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	GBA1, LOC106627981 (G364R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +8 more	GLikely pathogenic
Select item 930579	NM_006186.4(NR4A2):c.881dup (p.Asn294fs)	NR4A2 (N231fs +1 more)	Duplication (frameshift variant)	Parkinson disease, late-onset	GUncertain significance

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