ClinVar for PubMed (Select 18022370) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424819	NM_000157.3(GBA1):c.[1448T>C];[167T>G]			Gaucher disease type I	GLikely pathogenic
Select item 424818	NM_000157.3(GBA1):c.[1448T>C];[407C>T]			Gaucher disease type I	GLikely pathogenic
Select item 4297	NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]	GBA1, LOC106627981 (L483P +5 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +1 more	GPathogenic
Select item 4289	NM_000157.4(GBA1):c.1361C>G (p.Pro454Arg)	GBA1, LOC106627981 (P454R +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type II	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Movement disorder +15 more	GPathogenic; risk factor

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